Hereditary nonpolyposis colorectal cancer overview: Difference between revisions

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==Overview==
==Overview==


Hereditary nonpolyposis colorectal cancer is an autosomal dominant genetic disease characterized by the early onset of [[colon cancer]], [[endometrial cancer]], and other malignant tumors caused by genetic mutations, that lead to an accumulation of [[DNA]] mismatches in the MMR gene. Hereditary nonpolyposis colorectal cancer is characterized by an increased risk of [[colorectal cancer]] and other cancers of the [[Endometrial cancer|endometrium]], [[Ovarian cancer|ovary]], [[Stomach cancer|stomach]], [[Gastrointestinal cancer|small intestine]], [[Gallbladder cancer|hepatobiliary tract]], upper urinary tract, [[Brain tumor|brain]], and [[Skin cancer|skin]]. Hereditary nonpolyposis colorectal cancer accounts for approximately 3-5% of colorectal cancer cases. Hereditary nonpolyposis colorectal canceris classified into 2 types: Lynch syndrome I (familial colon cancer) and Lynch syndrome II (other cancer of the gastrointestinal system or the reproductive system). Hereditary nonpolyposis colorectal canceris the most common hereditary colorectal carcinoma syndrome.<ref name="pmid16870997">{{cite journal |vauthors=Hendriks YM, de Jong AE, Morreau H, Tops CM, Vasen HF, Wijnen JT, Breuning MH, Bröcker-Vriends AH |title=Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians |journal=CA Cancer J Clin |volume=56 |issue=4 |pages=213–25 |year=2006 |pmid=16870997 |doi= |url=}}</ref> The increased risk for these cancers is due to inherited mutations that degrade the self-repair capability of [[DNA]]. The Amsterdam clinical criteria identifies candidates for genetic testing, and genetic testing can make a diagnosis of HPNCC. Surgery remains the mainstay therapy for Hereditary nonpolyposis colorectal cancer.<ref name="wiki"> Hereditary nonpolyposis colorectal cancer. Wikipedia. https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015 </ref>
Lynch [[syndrome]] was first described by Dr. Henry T. Lynch, an American [[physician]], in 1966. Hereditary nonpolyposis colorectal cancer may be [[Classification|classified]] into 2 types: Lynch syndrome I (familial [[Colorectal cancer|colon cancer]]) and Lynch syndrome II (hereditary nonpolyposis colorectal cancer associated with other [[cancers]]). Other variants such as Muir-Torre syndrome and Turcot syndrome are considered subtypes of hereditary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal cancer is an [[autosomal dominant]] [[genetic]] [[disease]] characterized by an early onset of [[colon cancer]], [[endometrial cancer]], and other [[malignant]] [[tumors]]. Development of hereditary nonpolyposis colorectal cancer is the result of multiple [[genetic mutation]]s. The [[Gene|genes]] involved in the [[pathogenesis]] of hereditary nonpolyposis colorectal cancer include: [[MSH2|MSH-2]], [[MLH1|MLH-1]], [[MSH6|MSH-6]], [[PMS2|PMS-2]] , [[PMS1|PMS-1]], [[TGFBR2|TGF-BR2]], and [[MLH3|MLH-3]]. This [[syndrome]] occurs most commonly in the [[proximal]] [[colon]] (60% to 80%). [[Endometrial cancer]] is the most common [[Sentinel event|sentinel]] [[cancer]] among [[female]] [[patients]] with hereditary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal cancer is caused by [[Germline mutation|germline mutations]] in one of the four [[DNA mismatch repair|MMR]] [[genes]] ([[MLH1]], [[MSH2 gene|MSH2]], [[MSH6]], or [[PMS2]]), that results in defective repair of [[DNA sequence]]. [[Deletion (genetics)|Deletions]] in the EPCAM [[gene]] also cause hereditary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal cancer must be differentiated from other [[Disease|diseases]] that cause [[Family|familial]] [[colorectal cancer]], such as: [[juvenile polyposis]], [[familial adenomatous polyposis]], [[Cowden syndrome]], and MYH-associated [[Polyp|polyposis]]. [[Incidence]] of HNPCC is not well known but it is estimated that 0.5 to 13% of the cases of [[colorectal cancer]] are due to hereditary nonpolyposis colorectal cancer. The [[prevalence]] of hereditary nonpolyposis colorectal cancer is approximately 2 - 7% of all the [[Diagnosis|diagnosed]] cases of [[colorectal cancer]]. Hereditary nonpolyposis colorectal cancer commonly affects young adult population. The [[median]] age of [[diagnosis]] is between 40 to 45 years. Hereditary nonpolyposis colorectal cancer affects [[males]] and [[Female|females]] equally. Hereditary nonpolyposis colorectal cancer usually affects individuals of the white race more commonly. Ethnically-diverse individuals are less likely to develop MMR [[Mutation|mutations]] related with hereditary nonpolyposis colorectal cancer. The most [[Potency|potent]] [[risk factor]] in the development of hereditary nonpolyposis colorectal cancer is [[gene]] [[Mutation|mutations]] caused by defective [[DNA mismatch repair]]. According to the Bethesda guidelines and Amsterdam criteria, [[Screening (medicine)|screening]] for hereditary nonpolyposis colorectal cancer by [[genetic testing]] is recommended among [[Patient|patients]] with [[family history]] or/and a confirmed [[diagnosis]] of [[colorectal cancer]] under age 50 years. If left untreated, hereditary nonpolyposis colorectal cancer progression occurs rapidly and is then followed by sentinel [[Organ (anatomy)|organ]] [[cancer]] or [[metastasis]]. Hereditary nonpolyposis colorectal cancer is an aggressive [[syndrome]] characterized by early onset of [[cancer]]. Affected [[Organ (anatomy)|organs]] include [[endometrium]] (second most common after [[Colon (anatomy)|colon]]), [[ovary]], [[stomach]], [[small intestine]], [[hepatobiliary tract]], upper [[urinary tract]], [[brain]], and [[skin]]. [[Complication (medicine)|Complications]] of hereditary nonpolyposis colorectal cancer are usually related to the [[surgery]]. The 5-year relative survival of [[Patient|patients]] with hereditary nonpolyposis colorectal cancer is approximately 79.3%. A feature associated with worse [[prognosis]] is late stage [[diagnosis]]. The hallmark of hereditary nonpolyposis colorectal cancer is a first-degree relative with known MMR/EPCAM [[gene]] [[mutation]]. A positive [[family history]] of [[colorectal cancer]] and meeting [[Amsterdam criteria|Amsterdam I or II criteria]] or revised Bethesda guidelines is highly suggestive of hereditary nonpolyposis colorectal cancer. Some [[symptoms]] that are associated with [[colorectal cancer]] are change in [[bowel]] habits, [[hematochezia]], and [[rectal pain]]. [[Patient|Patients]] with hereditary nonpolyposis colorectal cancer usually appear [[Health|healthy]]. [[Physical examination]] of [[Patient|patients]] with hereditary nonpolyposis colorectal cancer may show the presence of the [[Fordyce's spot|fordyce granules]]. [[Medical laboratory|Laboratory]] findings consistent with the [[diagnosis]] of hereditary nonpolyposis colorectal cancer may include positive [[germline]] [[Test|testing]] for hereditary nonpolyposis colorectal cancer [[Gene|genes]] ([[MLH1]], [[MSH2]], [[MSH6]], and [[PMS2]]), positive EPCAM [[gene]] [[Test|testing]], and elevated [[serum]] concentration of [[CEA]] and [[CA-125]]. There are no [[ECG]] findings associated with hereditary nonpolyposis colorectal cancer. There are no [[x-ray]] findings associated with hereditary nonpolyposis colorectal cancer. There are no [[echocardiography]] findings associated with hereditary nonpolyposis colorectal cancer. There are no [[ultrasound]] findings associated with hereditary nonpolyposis colorectal cancer. However, an [[ultrasound]] may be helpful as a [[screening]] tool for the [[diagnosis]] of [[endometrial cancer]] which is commonly found in women with this [[syndrome]]. [[CT scan]] is not routinely used for the [[diagnosis]] of hereditary nonpolyposis colorectal cancer. However, in some cases, [[CT scan]] can be useful in the detection of extracolonic [[lesions]] and also right-sided [[colon]] [[Lesion|lesions]] (especially in the [[cecum]]) which are not easily seen with [[colonoscopy]]. [[Magnetic resonance imaging|Magnetic resonance colonography (MRC)]] is not routinely used for the [[diagnosis]] of hereditary nonpolyposis colorectal cancer. Although it is associated with less [[discomfort]] as compared to [[colonoscopy]], it has poor [[sensitivity]] in detecting small [[polyps]], limiting its utility in [[adenoma]] [[screening]] at this time. There are no associated additional [[imaging]] findings for the [[diagnosis]] of hereditary nonpolyposis colorectal cancer. According to the [[American College of Gastroenterology Guidelines|American College of Gastroenterology]], [[Patient|patients]] with hereditary nonpolyposis colorectal cancer should undergo [[colonoscopy]] every 2 years beginning at age 20 - 25 years, until the age of 40, followed by an annual [[colonoscopy]]. [[Diagnosis|Diagnostic]] and [[Screening (medicine)|screening]] [[endoscopy]] is recommended in the case of hereditary nonpolyposis colorectal cancer. There is no [[medical treatment]] for hereditary nonpolyposis colorectal cancer. However, hereditary nonpolyposis colorectal cancer [[Patient|patients]] should consider [[diet]] optimization and [[pharmacological]] [[Prevention (medical)|prevention]]. [[Surgery]] is the mainstay of treatment for hereditary nonpolyposis colorectal cancer. [[Surgery|Surgical]] [[resection]] is recommended for [[Patient|patients]] with hereditary nonpolyposis colorectal cancer because of the high rate of metachronous [[colorectal cancer]]. [[Colectomy|Subtotal colectomy]] with [[Ileum|ileo]]-[[rectal]] [[anastomosis]] and [[Surgery|postsurgical]] [[Endoscopy|endoscopic]] [[rectal]] surveillance are advised when [[colorectal cancer]] develops in the setting of hereditary nonpolyposis colorectal cancer. There is no established method for the primary prevention of hereditary nonpolyposis colorectal cancer.There are no established measures for the [[Prevention (medical)|primary prevention]] of hereditary nonpolyposis colorectal cancer. [[Secondary prevention]] strategies following hereditary nonpolyposis colorectal cancer include [[genetic testing]], [[colonoscopy]], [[urine]] [[cytology]], [[pelvic exam]], and [[endometrial biopsy]].


==Historical Perspective==
== Historical Perspective ==
Lynch syndrome was named in honor of Dr. Henry T. Lynch, an American physician and professor of medicine at Creighton University Medical Center in 1966.<ref name="pmid4069033">{{cite journal |vauthors=Lynch HT, Lynch JF |title=Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II): a common genotype linked to oncogenes? |journal=Med. Hypotheses |volume=18 |issue=1 |pages=19–28 |year=1985 |pmid=4069033 |doi= |url=}}</ref>
Lynch [[syndrome]] was first described by Dr. Henry T. Lynch, an American [[physician]], in 1966.


==Classification==
==Classification==


Hereditary nonpolyposis colorectal cancer may be classified into 2 types: ''Lynch syndrome I'' (familial colon cancer) and ''Lynch syndrome II'' (hereditary nonpolyposis colorectal cancer associated with other cancers of the gastrointestinal tract or [[reproductive system]]).<ref name="wiki"> Hereditary nonpolyposis colorectal cancer. Wikipedia. https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015 </ref> Other variants such as Muir-Torre syndrome and Turcot syndrome are considered subtypes of hereditary nonpolyposis colorectal cancer.<ref name="pmid1648437">{{cite journal |vauthors=Lynch HT, Lanspa S, Smyrk T, Boman B, Watson P, Lynch J |title=Hereditary nonpolyposis colorectal cancer (Lynch syndromes I & II). Genetics, pathology, natural history, and cancer control, Part I |journal=Cancer Genet. Cytogenet. |volume=53 |issue=2 |pages=143–60 |year=1991 |pmid=1648437 |doi= |url=}}</ref>
Hereditary nonpolyposis colorectal cancer may be [[Classification|classified]] into 2 types: Lynch syndrome I (familial [[Colorectal cancer|colon cancer]]) and Lynch syndrome II (hereditary nonpolyposis colorectal cancer associated with other [[cancers]]). Other variants such as Muir-Torre syndrome and Turcot syndrome are considered subtypes of hereditary nonpolyposis colorectal cancer.


==Pathophysiology==
==Pathophysiology==
Hereditary nonpolyposis colorectal cancer is an autosomal dominant genetic disease characterized by an early onset of [[colon cancer]], [[endometrial cancer]], and other malignant tumors.<ref name="pmid26474631">{{cite journal |vauthors=Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T |title=[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review] |language=Chinese |journal=Beijing Da Xue Xue Bao |volume=47 |issue=5 |pages=858–64 |year=2015 |pmid=26474631 |doi= |url=}}</ref> Development of hereditary nonpolyposis colorectal cancer is the result of multiple [[genetic mutation]]s. The most common genetic mutation involved in the pathogenesis of hereditary nonpolyposis colorectal cancer is a mutaiton in the MMR gene. Other genes involved in the pathogenesis of hereditary nonpolyposis colorectal cancer include: MSH-2, MLH-1, MSH-6, PMS-2 ,PMS-1, TGF-BR2, and MLH-3. This syndrome occurs most commonly in the proximal colon (60% to 80%) and [[endometrial cancer]] is the most common sentinel cancer among female patients with hereditary nonpolyposis colorectal cancer.<ref name="pmid26474631">{{cite journal |vauthors=Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T |title=[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review] |language=Chinese |journal=Beijing Da Xue Xue Bao |volume=47 |issue=5 |pages=858–64 |year=2015 |pmid=26474631 |doi= |url=}}</ref>
Hereditary nonpolyposis colorectal cancer is an [[autosomal dominant]] [[genetic]] [[disease]] characterized by an early onset of [[colon cancer]], [[endometrial cancer]], and other [[malignant]] [[tumors]]. Development of hereditary nonpolyposis colorectal cancer is the result of multiple [[genetic mutation]]s. The [[Gene|genes]] involved in the [[pathogenesis]] of hereditary nonpolyposis colorectal cancer include: [[MSH2|MSH-2]], [[MLH1|MLH-1]], [[MSH6|MSH-6]], [[PMS2|PMS-2]] , [[PMS1|PMS-1]], [[TGFBR2|TGF-BR2]], and [[MLH3|MLH-3]]. This [[syndrome]] occurs most commonly in the [[proximal]] [[colon]] (60% to 80%). [[Endometrial cancer]] is the most common [[Sentinel event|sentinel]] [[cancer]] among [[female]] [[patients]] with hereditary nonpolyposis colorectal cancer.  


==Causes==
==Causes==
Hereditary nonpolyposis colorectal cancer is caused by a genetic mutation in MMR gene, that results in defective repair of DNA sequence.<ref name="pmid26474631">{{cite journal |vauthors=Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T |title=[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review] |language=Chinese |journal=Beijing Da Xue Xue Bao |volume=47 |issue=5 |pages=858–64 |year=2015 |pmid=26474631 |doi= |url=}}</ref>
Hereditary nonpolyposis colorectal cancer is caused by [[Germline mutation|germline mutations]] in one of the four [[DNA mismatch repair|MMR]] [[genes]] ([[MLH1]], [[MSH2 gene|MSH2]], [[MSH6]], or [[PMS2]]), that results in defective repair of [[DNA sequence]]. [[Deletion (genetics)|Deletions]] in the EPCAM [[gene]] also cause hereditary nonpolyposis colorectal cancer.


==Differentiating Hereditary nonpolyposis colorectal cancer from other Diseases==
==Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases==
Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause familial colorectal cancer, such as:
Hereditary nonpolyposis colorectal cancer must be differentiated from other [[Disease|diseases]] that cause [[Family|familial]] [[colorectal cancer]], such as: [[juvenile polyposis]], [[familial adenomatous polyposis]], [[Cowden syndrome]], and MYH-associated [[Polyp|polyposis]].
[[juvenile polyposis]], [[familial adenomatous polyposis]], [[Cowden syndrome]], and MYH-associated polyposis.<ref> Kladny J, Lubinski J. Lynch syndrome (hereditary nonpolyposis colorectal cancer). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref>


==Epidemiology and Demographics==
==Epidemiology and Demographics==


The prevalence of hereditary nonpolyposis colorectal cancer is approximately 2-7% of all diagnosed cases of colorectal cancer.<ref name="pmid9593786">{{cite journal |vauthors=Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, Chadwick RB, Kääriäinen H, Eskelinen M, Järvinen H, Mecklin JP, de la Chapelle A |title=Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease |journal=N. Engl. J. Med. |volume=338 |issue=21 |pages=1481–7 |year=1998 |pmid=9593786 |doi=10.1056/NEJM199805213382101 |url=}}</ref> Hereditary nonpolyposis colorectal cancer commonly affects young adult population. The median age of diagnosis is between 40 to 45 years.<ref name="pmid9593786">{{cite journal |vauthors=Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, Chadwick RB, Kääriäinen H, Eskelinen M, Järvinen H, Mecklin JP, de la Chapelle A |title=Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease |journal=N. Engl. J. Med. |volume=338 |issue=21 |pages=1481–7 |year=1998 |pmid=9593786 |doi=10.1056/NEJM199805213382101 |url=}}</ref> Hereditary nonpolyposis colorectal cancer affects men and women equally.<ref name="wiki"> Hereditary nonpolyposis colorectal cancer. Wikipedia. https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015 </ref> Hereditary nonpolyposis colorectal cancer usually affects individuals of the white race more commonly. Ethnically-diverse individuals are less likely to develop MMR mutations related with hereditary nonpolyposis colorectal cancer.<ref name"predic">Monteiro santos EM, Valentin MD, Carneiro F, et al. Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries. BMC Cancer. 2012;12:64.</ref>
[[Incidence]] of HNPCC is not well known but it is estimated that 0.5 to 13% of the cases of [[colorectal cancer]] are due to hereditary nonpolyposis colorectal cancer. The [[prevalence]] of hereditary nonpolyposis colorectal cancer is approximately 2 - 7% of all the [[Diagnosis|diagnosed]] cases of [[colorectal cancer]]. Hereditary nonpolyposis colorectal cancer commonly affects young adult population. The [[median]] age of [[diagnosis]] is between 40 to 45 years. Hereditary nonpolyposis colorectal cancer affects [[males]] and [[Female|females]] equally. Hereditary nonpolyposis colorectal cancer usually affects individuals of the white race more commonly. Ethnically-diverse individuals are less likely to develop MMR [[Mutation|mutations]] related with hereditary nonpolyposis colorectal cancer.


==Risk Factors==
==Risk Factors==
The most potent risk factor in the development of hereditary nonpolyposis colorectal cancer is gene mutations caused by defective DNA mismatch repair.<ref name="pmid26474631">{{cite journal |vauthors=Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T |title=[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review] |language=Chinese |journal=Beijing Da Xue Xue Bao |volume=47 |issue=5 |pages=858–64 |year=2015 |pmid=26474631 |doi= |url=}}</ref>
The most [[Potency|potent]] [[risk factor]] in the development of hereditary nonpolyposis colorectal cancer is [[gene]] [[Mutation|mutations]] caused by defective [[DNA mismatch repair]].


==Screening==
==Screening==
According to the Bethesda guidelines and Amsterdam criteria, screening for hereditary nonpolyposis colorectal cancer by genetic testing is recommended among patients with family history or/and a confirmed diagnosis of [[colorectal cancer]] under age 50 years.<ref name="screen">{{cite journal | vauthors = Vasen HF, Watson P, Mecklin JP, Lynch HT | title = New clinical criteria for hereditary nonpolyposis colorectal cancer (hereditary nonpolyposis colorectal cancer, Lynch syndrome) proposed by the International Collaborative group on hereditary nonpolyposis colorectal cancer| journal = Gastroenterology | volume = 116 | issue = 6 | pages = 1453–6 | date = Jun 1999 | pmid = 10348829 | doi = 10.1016/S0016-5085(99)70510-X }}</ref><ref name="pmid21205737">{{cite journal |vauthors=Hampel H, de la Chapelle A |title=The search for unaffected individuals with Lynch syndrome: do the ends justify the means? |journal=Cancer Prev Res (Phila) |volume=4 |issue=1 |pages=1–5 |year=2011 |pmid=21205737 |pmc=3076593 |doi=10.1158/1940-6207.CAPR-10-0345 |url=}}</ref>
According to the Bethesda guidelines and Amsterdam criteria, [[Screening (medicine)|screening]] for hereditary nonpolyposis colorectal cancer by [[genetic testing]] is recommended among [[Patient|patients]] with [[family history]] or/and a confirmed [[diagnosis]] of [[colorectal cancer]] under age 50 years.


==Natural History, Complications and Prognosis==
==Natural History, Complications and Prognosis==


If left untreated, hereditary nonpolyposis colorectal cancer progression occurs rapidly and is then followed by centinel organ cancer or metastasis. Hereditary nonpolyposis colorectal cancer is an aggressive syndrome characterized by early onset of cancer. Common sites of affection include endometrium (second most common after colon), [[ovary]], [[stomach]], [[small intestine]], [[hepatobiliary tract]], upper [[urinary tract]], [[brain]], and [[skin]]. Complications of hereditary nonpolyposis colorectal cancer are usually related to the surgery. The 5-year relative survival of patients with hereditary nonpolyposis colorectal cancer is approximately 79.3%.<ref name="pmid21205737">{{cite journal |vauthors=Hampel H, de la Chapelle A |title=The search for unaffected individuals with Lynch syndrome: do the ends justify the means? |journal=Cancer Prev Res (Phila) |volume=4 |issue=1 |pages=1–5 |year=2011 |pmid=21205737 |pmc=3076593 |doi=10.1158/1940-6207.CAPR-10-0345 |url=}}</ref> A feature associated with worse [[prognosis]] is late stage colorectal diagnosis or metastasis.<ref>Stigliano V, Assisi D, Cosimelli M, et al. Survival of hereditary non-polyposis colorectal cancer patients compared with sporadic colorectal cancer patients. J Exp Clin Cancer Res. 2008;27:39.</ref>
If left untreated, hereditary nonpolyposis colorectal cancer progression occurs rapidly and is then followed by sentinel [[Organ (anatomy)|organ]] [[cancer]] or [[metastasis]]. Hereditary nonpolyposis colorectal cancer is an aggressive [[syndrome]] characterized by early onset of [[cancer]]. Affected [[Organ (anatomy)|organs]] include [[endometrium]] (second most common after [[Colon (anatomy)|colon]]), [[ovary]], [[stomach]], [[small intestine]], [[hepatobiliary tract]], upper [[urinary tract]], [[brain]], and [[skin]]. [[Complication (medicine)|Complications]] of hereditary nonpolyposis colorectal cancer are usually related to the [[surgery]]. The 5-year relative survival of [[Patient|patients]] with hereditary nonpolyposis colorectal cancer is approximately 79.3%. A feature associated with worse [[prognosis]] is late stage [[diagnosis]].


==Diagnosis==
==History and Symptoms==
The hallmark of hereditary nonpolyposis colorectal cancer is a first-degree relative with known MMR/EPCAM [[gene]] [[mutation]]. A positive [[family history]] of [[colorectal cancer]] and meeting [[Amsterdam criteria|Amsterdam I or II criteria]] or revised Bethesda guidelines is highly suggestive of hereditary nonpolyposis colorectal cancer. Some [[symptoms]] that are associated with [[colorectal cancer]] are change in [[bowel]] habits, [[hematochezia]], and [[rectal pain]].


===Staging===
==Physical Examination==


There is no established system for the staging of hereditary nonpolyposis colorectal cancer.<ref name="wiki">Hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015 </ref>
[[Patient|Patients]] with hereditary nonpolyposis colorectal cancer usually appear [[Health|healthy]]. [[Physical examination]] of [[Patient|patients]] with hereditary nonpolyposis colorectal cancer may show the presence of the [[Fordyce's spot|fordyce granules]].


===History and Symptoms===
==Laboratory Findings==
The hallmark of hereditary nonpolyposis colorectal cancer is  a first-degree relative of those with known MMR/EPCAM [[gene mutation]]. A positive history of colorectal cancer and meeting Amsterdam I or II criteria or revised Bethesda guidelines is highly suggestive of hereditary nonpolyposis colorectal cancer. Some symptoms that are associated with colorectal cancer are change in bowel habits, [[hematochezia]], and [[rectal pain]].<ref name="lynch">Kladny J, Lubinski J. Lynch syndrome (hereditary nonpolyposis colorectal cancer). hered Cancer Clin Pract. 2008;6(2):99-102.</ref>


===Physical Examination===
[[Medical laboratory|Laboratory]] findings consistent with the [[diagnosis]] of hereditary nonpolyposis colorectal cancer may include positive [[germline]] [[Test|testing]] for hereditary nonpolyposis colorectal cancer [[Gene|genes]] ([[MLH1]], [[MSH2]], [[MSH6]], and [[PMS2]]), positive EPCAM [[gene]] [[Test|testing]], and elevated [[serum]] concentration of [[CEA]] and [[CA-125]].


Patients with hereditary nonpolyposis colorectal cancer usually appear healthy. Physical examination of patients with hereditary nonpolyposis colorectal cancermay show for the presence of the fordyce granules.<ref name="lynch">Kladny J, Lubinski J. Lynch syndrome (hereditary nonpolyposis colorectal cancer). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref>
==Electrocardiogram==


===Laboratory Findings===
There are no [[ECG]] findings associated with hereditary nonpolyposis colorectal cancer.


Laboratory findings consistent with the diagnosis of hereditary nonpolyposis colorectal cancer include the evaluation of genetic mutations, such as; germline testing for a deleterious mutation in the MMR (MLH1, MSH2, MSH6, and PMS2) or EPCAM gene. Other laboratory findings include: GCBC, Fecal occult blood (FOBT), serum CEA, CA 19-9 concentration, CA-125, serum iron concentrations, serum vitamin B12, folate concentrations, liver function tests, and pulmonary function tests.<ref name="pmid24827900">{{cite journal |vauthors=Lynch HT, Drescher K, Knezetic J, Lanspa S |title=Genetics, biomarkers, hereditary cancer syndrome diagnosis, heterogeneity and treatment: a review |journal=Curr Treat Options Oncol |volume=15 |issue=3 |pages=429–42 |year=2014 |pmid=24827900 |doi=10.1007/s11864-014-0293-5 |url=}}</ref>
== X Ray ==
There are no [[x-ray]] findings associated with hereditary nonpolyposis colorectal cancer.


===Chest X-Ray===
== Echocardiography/Ultrasound ==
There are no [[echocardiography]] findings associated with hereditary nonpolyposis colorectal cancer. There are no [[ultrasound]] findings associated with hereditary nonpolyposis colorectal cancer. However, an [[ultrasound]] may be helpful as a [[screening]] tool for the [[diagnosis]] of [[endometrial cancer]] which is commonly found in women with this [[syndrome]].


There are no chest x-ray findings associated with hereditary nonpolyposis colorectal cancer.
==CT scan==


===CT Scan===
[[CT scan]] is not routinely used for the [[diagnosis]] of hereditary nonpolyposis colorectal cancer. However, in some cases, [[CT scan]] can be useful in the detection of extracolonic [[lesions]] and also right-sided [[colon]] [[Lesion|lesions]] (especially in the [[cecum]]) which are not easily seen with [[colonoscopy]].


There are no CT scan findings associated with hereditary nonpolyposis colorectal cancer.
==MRI==
[[Magnetic resonance imaging|Magnetic resonance colonography (MRC)]] is not routinely used for the [[diagnosis]] of hereditary nonpolyposis colorectal cancer. Although it is associated with less [[discomfort]] as compared to [[colonoscopy]], it has poor [[sensitivity]] in detecting small [[polyps]], limiting its utility in [[adenoma]] [[screening]] at this time.


===MRI===
== Other Imaging Findings ==
There are no associated additional [[imaging]] findings for the [[diagnosis]] of hereditary nonpolyposis colorectal cancer.


There are no MRI findings associated with hereditary nonpolyposis colorectal cancer.
==Other Diagnostic Studies==


===Other Diagnostic Studies===
According to the [[American College of Gastroenterology Guidelines|American College of Gastroenterology]], [[Patient|patients]] with hereditary nonpolyposis colorectal cancer should undergo [[colonoscopy]] every 2 years beginning at age 20 - 25 years, until the age of 40, followed by an annual [[colonoscopy]]. [[Diagnosis|Diagnostic]] and [[Screening (medicine)|screening]] [[endoscopy]] is recommended in the case of hereditary nonpolyposis colorectal cancer.


Diagnostic and screening endoscopy is recommended in the case of hereditary nonpolyposis colorectal cancer.<ref name="lynch">Kladny J, Lubinski J. Lynch syndrome (hereditary nonpolyposis colorectal cancer). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref> According to the American College of Gastroenterology, patients with hereditary nonpolyposis colorectal cancershould undergo colonoscopy every 2 years beginning at age 20–25 years, until age 40 years, then annually thereafter.<ref name="AGG">Rex DK, Johnson DA, Lieberman DA et al. Colorectal cancer prevention 2000: screening recommendations of the American College of Gastroenterology. Am J Gastroenterol 2000;95:868–77.</ref>
==Medical Therapy==
There is no [[medical treatment]] for hereditary nonpolyposis colorectal cancer. However, hereditary nonpolyposis colorectal cancer [[Patient|patients]] should consider [[diet]] optimization and [[pharmacological]] [[Prevention (medical)|prevention]].


==Treatment==
==Surgery==
[[Surgery]] is the mainstay of treatment for hereditary nonpolyposis colorectal cancer. [[Surgery|Surgical]] [[resection]] is recommended for [[Patient|patients]] with hereditary nonpolyposis colorectal cancer because of the high rate of metachronous [[colorectal cancer]]. [[Colectomy|Subtotal colectomy]] with [[Ileum|ileo]]-[[rectal]] [[anastomosis]] and [[Surgery|postsurgical]] [[Endoscopy|endoscopic]] [[rectal]] surveillance are advised when [[colorectal cancer]] develops in the setting of hereditary nonpolyposis colorectal cancer.


===Medical Therapy===
==Primary Prevention==
There is no medical treatment for hereditary nonpolyposis colorectal cancer.<ref name="pmid16870997">{{cite journal |vauthors=Hendriks YM, de Jong AE, Morreau H, Tops CM, Vasen HF, Wijnen JT, Breuning MH, Bröcker-Vriends AH |title=Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians |journal=CA Cancer J Clin |volume=56 |issue=4 |pages=213–25 |year=2006 |pmid=16870997 |doi= |url=}}</ref> However,  hereditary nonpolyposis colorectal cancerpatients should consider diet optimization and pharmacological prevention.<ref name="pmid26474631">{{cite journal |vauthors=Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T |title=[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review] |language=Chinese |journal=Beijing Da Xue Xue Bao |volume=47 |issue=5 |pages=858–64 |year=2015 |pmid=26474631 |doi= |url=}}</ref>
There is no established method for the primary prevention of hereditary nonpolyposis colorectal cancer.There are no established measures for the [[Prevention (medical)|primary prevention]] of hereditary nonpolyposis colorectal cancer.


===Surgery===
==Secondary Prevention==
Surgery is the mainstay of treatment for hereditary nonpolyposis colorectal cancer.<ref>Treatment of hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer#Treatment Accessed on December 2, 2015</ref> Surgical resection is recommended among patients with HPNCC because of the high rate of metachronous colorectal cancer. Subtotal colectomy with ileorectal anastomosis and postsurgical endoscopic rectal surveillance are advised when colorectal cancer develops in the setting of hereditary nonpolyposis colorectal cancer.
[[Secondary prevention]] strategies following hereditary nonpolyposis colorectal cancer include [[genetic testing]], [[colonoscopy]], [[urine]] [[cytology]], [[pelvic exam]], and [[endometrial biopsy]].
 
===Primary Prevention===
There is no established method for the primary prevention of hereditary nonpolyposis colorectal cancer.
 
===Secondary Prevention===
Effective measures for the secondary prevention of hereditary nonpolyposis colorectal cancer include: active surveillance, annual screening with genetic testing, colonoscopy, urine cytology, pelvic exam, and endometrial biopsy.<ref name="lynch">Kladny J, Lubinski J. Lynch syndrome (Hereditary nonpolyposis colorectal cancer). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref><ref name=hnpcc1> Genetics of Colorectal Cancer–for health professionals (PDQ®). National Institute of Cancer 2015.http://www.cancer.gov/types/colorectal/hp/colorectal-genetics-pdq. Accessed on Novemeber 30, 2015</ref>


==Case Studies==
==Case Studies==
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Latest revision as of 17:50, 30 April 2019

Hereditary Nonpolyposis Colorectal Cancer Microchapters

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Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases

Epidemiology and Demographics

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Physical Examination

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]

Overview

Lynch syndrome was first described by Dr. Henry T. Lynch, an American physician, in 1966. Hereditary nonpolyposis colorectal cancer may be classified into 2 types: Lynch syndrome I (familial colon cancer) and Lynch syndrome II (hereditary nonpolyposis colorectal cancer associated with other cancers). Other variants such as Muir-Torre syndrome and Turcot syndrome are considered subtypes of hereditary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal cancer is an autosomal dominant genetic disease characterized by an early onset of colon cancer, endometrial cancer, and other malignant tumors. Development of hereditary nonpolyposis colorectal cancer is the result of multiple genetic mutations. The genes involved in the pathogenesis of hereditary nonpolyposis colorectal cancer include: MSH-2, MLH-1, MSH-6, PMS-2 , PMS-1, TGF-BR2, and MLH-3. This syndrome occurs most commonly in the proximal colon (60% to 80%). Endometrial cancer is the most common sentinel cancer among female patients with hereditary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal cancer is caused by germline mutations in one of the four MMR genes (MLH1, MSH2, MSH6, or PMS2), that results in defective repair of DNA sequence. Deletions in the EPCAM gene also cause hereditary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause familial colorectal cancer, such as: juvenile polyposis, familial adenomatous polyposis, Cowden syndrome, and MYH-associated polyposis. Incidence of HNPCC is not well known but it is estimated that 0.5 to 13% of the cases of colorectal cancer are due to hereditary nonpolyposis colorectal cancer. The prevalence of hereditary nonpolyposis colorectal cancer is approximately 2 - 7% of all the diagnosed cases of colorectal cancer. Hereditary nonpolyposis colorectal cancer commonly affects young adult population. The median age of diagnosis is between 40 to 45 years. Hereditary nonpolyposis colorectal cancer affects males and females equally. Hereditary nonpolyposis colorectal cancer usually affects individuals of the white race more commonly. Ethnically-diverse individuals are less likely to develop MMR mutations related with hereditary nonpolyposis colorectal cancer. The most potent risk factor in the development of hereditary nonpolyposis colorectal cancer is gene mutations caused by defective DNA mismatch repair. According to the Bethesda guidelines and Amsterdam criteria, screening for hereditary nonpolyposis colorectal cancer by genetic testing is recommended among patients with family history or/and a confirmed diagnosis of colorectal cancer under age 50 years. If left untreated, hereditary nonpolyposis colorectal cancer progression occurs rapidly and is then followed by sentinel organ cancer or metastasis. Hereditary nonpolyposis colorectal cancer is an aggressive syndrome characterized by early onset of cancer. Affected organs include endometrium (second most common after colon), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. Complications of hereditary nonpolyposis colorectal cancer are usually related to the surgery. The 5-year relative survival of patients with hereditary nonpolyposis colorectal cancer is approximately 79.3%. A feature associated with worse prognosis is late stage diagnosis. The hallmark of hereditary nonpolyposis colorectal cancer is a first-degree relative with known MMR/EPCAM gene mutation. A positive family history of colorectal cancer and meeting Amsterdam I or II criteria or revised Bethesda guidelines is highly suggestive of hereditary nonpolyposis colorectal cancer. Some symptoms that are associated with colorectal cancer are change in bowel habits, hematochezia, and rectal pain. Patients with hereditary nonpolyposis colorectal cancer usually appear healthy. Physical examination of patients with hereditary nonpolyposis colorectal cancer may show the presence of the fordyce granules. Laboratory findings consistent with the diagnosis of hereditary nonpolyposis colorectal cancer may include positive germline testing for hereditary nonpolyposis colorectal cancer genes (MLH1, MSH2, MSH6, and PMS2), positive EPCAM gene testing, and elevated serum concentration of CEA and CA-125. There are no ECG findings associated with hereditary nonpolyposis colorectal cancer. There are no x-ray findings associated with hereditary nonpolyposis colorectal cancer. There are no echocardiography findings associated with hereditary nonpolyposis colorectal cancer. There are no ultrasound findings associated with hereditary nonpolyposis colorectal cancer. However, an ultrasound may be helpful as a screening tool for the diagnosis of endometrial cancer which is commonly found in women with this syndrome. CT scan is not routinely used for the diagnosis of hereditary nonpolyposis colorectal cancer. However, in some cases, CT scan can be useful in the detection of extracolonic lesions and also right-sided colon lesions (especially in the cecum) which are not easily seen with colonoscopy. Magnetic resonance colonography (MRC) is not routinely used for the diagnosis of hereditary nonpolyposis colorectal cancer. Although it is associated with less discomfort as compared to colonoscopy, it has poor sensitivity in detecting small polyps, limiting its utility in adenoma screening at this time. There are no associated additional imaging findings for the diagnosis of hereditary nonpolyposis colorectal cancer. According to the American College of Gastroenterology, patients with hereditary nonpolyposis colorectal cancer should undergo colonoscopy every 2 years beginning at age 20 - 25 years, until the age of 40, followed by an annual colonoscopy. Diagnostic and screening endoscopy is recommended in the case of hereditary nonpolyposis colorectal cancer. There is no medical treatment for hereditary nonpolyposis colorectal cancer. However, hereditary nonpolyposis colorectal cancer patients should consider diet optimization and pharmacological prevention. Surgery is the mainstay of treatment for hereditary nonpolyposis colorectal cancer. Surgical resection is recommended for patients with hereditary nonpolyposis colorectal cancer because of the high rate of metachronous colorectal cancer. Subtotal colectomy with ileo-rectal anastomosis and postsurgical endoscopic rectal surveillance are advised when colorectal cancer develops in the setting of hereditary nonpolyposis colorectal cancer. There is no established method for the primary prevention of hereditary nonpolyposis colorectal cancer.There are no established measures for the primary prevention of hereditary nonpolyposis colorectal cancer. Secondary prevention strategies following hereditary nonpolyposis colorectal cancer include genetic testing, colonoscopy, urine cytology, pelvic exam, and endometrial biopsy.

Historical Perspective

Lynch syndrome was first described by Dr. Henry T. Lynch, an American physician, in 1966.

Classification

Hereditary nonpolyposis colorectal cancer may be classified into 2 types: Lynch syndrome I (familial colon cancer) and Lynch syndrome II (hereditary nonpolyposis colorectal cancer associated with other cancers). Other variants such as Muir-Torre syndrome and Turcot syndrome are considered subtypes of hereditary nonpolyposis colorectal cancer.

Pathophysiology

Hereditary nonpolyposis colorectal cancer is an autosomal dominant genetic disease characterized by an early onset of colon cancer, endometrial cancer, and other malignant tumors. Development of hereditary nonpolyposis colorectal cancer is the result of multiple genetic mutations. The genes involved in the pathogenesis of hereditary nonpolyposis colorectal cancer include: MSH-2, MLH-1, MSH-6, PMS-2 , PMS-1, TGF-BR2, and MLH-3. This syndrome occurs most commonly in the proximal colon (60% to 80%). Endometrial cancer is the most common sentinel cancer among female patients with hereditary nonpolyposis colorectal cancer.

Causes

Hereditary nonpolyposis colorectal cancer is caused by germline mutations in one of the four MMR genes (MLH1, MSH2, MSH6, or PMS2), that results in defective repair of DNA sequence. Deletions in the EPCAM gene also cause hereditary nonpolyposis colorectal cancer.

Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases

Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause familial colorectal cancer, such as: juvenile polyposis, familial adenomatous polyposis, Cowden syndrome, and MYH-associated polyposis.

Epidemiology and Demographics

Incidence of HNPCC is not well known but it is estimated that 0.5 to 13% of the cases of colorectal cancer are due to hereditary nonpolyposis colorectal cancer. The prevalence of hereditary nonpolyposis colorectal cancer is approximately 2 - 7% of all the diagnosed cases of colorectal cancer. Hereditary nonpolyposis colorectal cancer commonly affects young adult population. The median age of diagnosis is between 40 to 45 years. Hereditary nonpolyposis colorectal cancer affects males and females equally. Hereditary nonpolyposis colorectal cancer usually affects individuals of the white race more commonly. Ethnically-diverse individuals are less likely to develop MMR mutations related with hereditary nonpolyposis colorectal cancer.

Risk Factors

The most potent risk factor in the development of hereditary nonpolyposis colorectal cancer is gene mutations caused by defective DNA mismatch repair.

Screening

According to the Bethesda guidelines and Amsterdam criteria, screening for hereditary nonpolyposis colorectal cancer by genetic testing is recommended among patients with family history or/and a confirmed diagnosis of colorectal cancer under age 50 years.

Natural History, Complications and Prognosis

If left untreated, hereditary nonpolyposis colorectal cancer progression occurs rapidly and is then followed by sentinel organ cancer or metastasis. Hereditary nonpolyposis colorectal cancer is an aggressive syndrome characterized by early onset of cancer. Affected organs include endometrium (second most common after colon), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. Complications of hereditary nonpolyposis colorectal cancer are usually related to the surgery. The 5-year relative survival of patients with hereditary nonpolyposis colorectal cancer is approximately 79.3%. A feature associated with worse prognosis is late stage diagnosis.

History and Symptoms

The hallmark of hereditary nonpolyposis colorectal cancer is a first-degree relative with known MMR/EPCAM gene mutation. A positive family history of colorectal cancer and meeting Amsterdam I or II criteria or revised Bethesda guidelines is highly suggestive of hereditary nonpolyposis colorectal cancer. Some symptoms that are associated with colorectal cancer are change in bowel habits, hematochezia, and rectal pain.

Physical Examination

Patients with hereditary nonpolyposis colorectal cancer usually appear healthy. Physical examination of patients with hereditary nonpolyposis colorectal cancer may show the presence of the fordyce granules.

Laboratory Findings

Laboratory findings consistent with the diagnosis of hereditary nonpolyposis colorectal cancer may include positive germline testing for hereditary nonpolyposis colorectal cancer genes (MLH1, MSH2, MSH6, and PMS2), positive EPCAM gene testing, and elevated serum concentration of CEA and CA-125.

Electrocardiogram

There are no ECG findings associated with hereditary nonpolyposis colorectal cancer.

X Ray

There are no x-ray findings associated with hereditary nonpolyposis colorectal cancer.

Echocardiography/Ultrasound

There are no echocardiography findings associated with hereditary nonpolyposis colorectal cancer. There are no ultrasound findings associated with hereditary nonpolyposis colorectal cancer. However, an ultrasound may be helpful as a screening tool for the diagnosis of endometrial cancer which is commonly found in women with this syndrome.

CT scan

CT scan is not routinely used for the diagnosis of hereditary nonpolyposis colorectal cancer. However, in some cases, CT scan can be useful in the detection of extracolonic lesions and also right-sided colon lesions (especially in the cecum) which are not easily seen with colonoscopy.

MRI

Magnetic resonance colonography (MRC) is not routinely used for the diagnosis of hereditary nonpolyposis colorectal cancer. Although it is associated with less discomfort as compared to colonoscopy, it has poor sensitivity in detecting small polyps, limiting its utility in adenoma screening at this time.

Other Imaging Findings

There are no associated additional imaging findings for the diagnosis of hereditary nonpolyposis colorectal cancer.

Other Diagnostic Studies

According to the American College of Gastroenterology, patients with hereditary nonpolyposis colorectal cancer should undergo colonoscopy every 2 years beginning at age 20 - 25 years, until the age of 40, followed by an annual colonoscopy. Diagnostic and screening endoscopy is recommended in the case of hereditary nonpolyposis colorectal cancer.

Medical Therapy

There is no medical treatment for hereditary nonpolyposis colorectal cancer. However, hereditary nonpolyposis colorectal cancer patients should consider diet optimization and pharmacological prevention.

Surgery

Surgery is the mainstay of treatment for hereditary nonpolyposis colorectal cancer. Surgical resection is recommended for patients with hereditary nonpolyposis colorectal cancer because of the high rate of metachronous colorectal cancer. Subtotal colectomy with ileo-rectal anastomosis and postsurgical endoscopic rectal surveillance are advised when colorectal cancer develops in the setting of hereditary nonpolyposis colorectal cancer.

Primary Prevention

There is no established method for the primary prevention of hereditary nonpolyposis colorectal cancer.There are no established measures for the primary prevention of hereditary nonpolyposis colorectal cancer.

Secondary Prevention

Secondary prevention strategies following hereditary nonpolyposis colorectal cancer include genetic testing, colonoscopy, urine cytology, pelvic exam, and endometrial biopsy.

Case Studies

Case #1

See also

References


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