Hereditary nonpolyposis colorectal cancer overview: Difference between revisions
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==[[Hereditary nonpolyposis colorectal cancer classification|Classification]]== | ==[[Hereditary nonpolyposis colorectal cancer classification|Classification]]== | ||
Hereditary nonpolyposis colorectal cancer may be classified according to MSI-H into 3 subtypes: right-sided poorly differentiated cancers, right-sided mucinous cancers, and [[adenocarcinomas]] in any location showing any measurable level of [[intraepithelial lymphocyte]] (TIL). In addition, HNPCC can be divided into ''Lynch syndrome I'' (familial colon cancer) and ''Lynch syndrome II'' (HNPCC associated with other cancers of the gastrointestinal tract or [[reproductive system]]).<ref>Hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015 </ref> | Hereditary nonpolyposis colorectal cancer may be classified according to MSI-H into 3 subtypes: right-sided poorly differentiated cancers, right-sided mucinous cancers, and [[adenocarcinomas]] in any location showing any measurable level of [[intraepithelial lymphocyte]] (TIL). In addition, HNPCC can be divided into ''Lynch syndrome I'' (familial colon cancer) and ''Lynch syndrome II'' (HNPCC associated with other cancers of the gastrointestinal tract or [[reproductive system]]).<ref>Hereditary nonpolyposis colorectal cancer. Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015 </ref> | ||
==[[Hereditary nonpolyposis colorectal cancer pathophysiology|Pathophysiology]]== | ==[[Hereditary nonpolyposis colorectal cancer pathophysiology|Pathophysiology]]== | ||
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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
Hereditary nonpolyposis colorectal cancer (HNPCC) is characterized by an increased risk of colorectal cancer and other cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. It accounts for about 3-5% of colorectal cancer cases. HNPCC is subdivided into Lynch Syndrome I (familial colon cancer) and Lynch Syndrome II (other cancer of the gastrointestinal system or the reproductive system). HNPCC is the most common hereditary colorectal carcinoma syndrome.[1] The increased risk for these cancers is due to inherited mutations that degrade the self-repair capability of DNA. In the United States, about 160,000 new cases of colorectal cancer are diagnosed as a result of HNPCC each year. The Amsterdam clinical criteria identifies candidates for genetic testing, and genetic testing can make a diagnosis of HPNCC. Surgery remains the mainstay therapy for HNPCC.[2]
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.[3]
Classification
Hereditary nonpolyposis colorectal cancer may be classified according to MSI-H into 3 subtypes: right-sided poorly differentiated cancers, right-sided mucinous cancers, and adenocarcinomas in any location showing any measurable level of intraepithelial lymphocyte (TIL). In addition, HNPCC can be divided into Lynch syndrome I (familial colon cancer) and Lynch syndrome II (HNPCC associated with other cancers of the gastrointestinal tract or reproductive system).[4]
Pathophysiology
HNPCC 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 MMR gene.[5] This syndrome occurs mostly in the proximal colon (60% to 80%) and endometrial cancer the most common sentinel cancer in female patients with HNPCC.
Causes
Hereditary nonpolyposis colorectal cancer is caused by a genetic mutation in MMR gene, that results in defective repair of DNA sequence.[5]
Differentiating Hereditary nonpolyposis colorectal cancer from other Diseases
Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause colon cancer, such as juvenile polyposis, MYH-associated polyposis, and Familial Adenomatous Polyposis.
Epidemiology and Demographics
The prevalence of hereditary nonpolyposis colorectal cancer is approximately 2-7% of all diagnosed cases of colorectal cancer.[6]
Risk Factors
The most potent risk factor in the development of hereditary nonpolyposis colorectal cancer is gene mutations caused by defective DNA mismatch repair.[5]
Screening
According to the Bethesda guidelines and Amsterdam criteria, screening for HNPCC by genetic testing is recommended among patients with family history or/and a confirmed diagnosis of colorectal cancer under age 50 years.[7][8]
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 HNPCC are usually related to the surgery. The 5-year relative survival of patients with colorectal HNPCC cancer is approximately 79.3%. A feature associated with worse prognosis is late stage colorectal diagnosis or metastasis.[9]
Diagnosis
Staging
There is no established system for the staging of hereditary nonpolyposis colorectal cancer.[10]
History and Symptoms
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 HNPCC. Some symptoms that are associated with colorectal cancer are change in bowel habits, hematochezia, and rectal pain.[11]
Physical Examination
Patients with hereditary nonpolyposis colorectal cancer are usually young and have a family history of colorectal cancer. Physical examination of patients with Lynch syndrome may show the presence of the fordyce granules.
Laboratory Findings
The laboratory findings associated with hereditary nonpolyposis colorectal cancer are mainly related with the evaluation of genetic mutations; such as the 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 and CA 125, serum iron concentrations, serum vitamin B12 and folate concentrations, liver function tests, and pulmonary function tests.[12]
Chest X-ray
There are no chest X-ray findings associated with hereditary nonpolyposis colorectal cancer.
CT Scan
There are no CT scan findings associated with hereditary nonpolyposis colorectal cancer.
MRI
There are no MRI findings associated with hereditary nonpolyposis colorectal cancer.
Other Diagnostic Studies
Diagnostic and screening endoscopy is recommended in the case of HNPCC.[13] According to the American College of Gastroenterology, patients with HNPCC should undergo colonoscopy every 2 years beginning at age 20–25 years, until age 40 years, then annually thereafter.[14]
Treatment
Medical Therapy
There is no medical treatment for hereditary nonpolyposis colorectal cancer.[5][1]
Surgery
Surgery is the mainstay of treatment for hereditary nonpolyposis colorectal cancer.[15]
Case Studies
See also
References
- ↑ 1.0 1.1 Hendriks YM, de Jong AE, Morreau H, Tops CM, Vasen HF, Wijnen JT, Breuning MH, Bröcker-Vriends AH (2006). "Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians". CA Cancer J Clin. 56 (4): 213–25. PMID 16870997.
- ↑ Hereditary nonpolyposis colorectal cancer. Wikipedia. https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015
- ↑ Lynch HT, Lynch JF (1985). "Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II): a common genotype linked to oncogenes?". Med. Hypotheses. 18 (1): 19–28. PMID 4069033.
- ↑ Hereditary nonpolyposis colorectal cancer. Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015
- ↑ 5.0 5.1 5.2 5.3 Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T (2015). "[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review]". Beijing Da Xue Xue Bao (in Chinese). 47 (5): 858–64. PMID 26474631.
- ↑ 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 (1998). "Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease". N. Engl. J. Med. 338 (21): 1481–7. doi:10.1056/NEJM199805213382101. PMID 9593786.
- ↑ Vasen HF, Watson P, Mecklin JP, Lynch HT (Jun 1999). "New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC". Gastroenterology. 116 (6): 1453–6. doi:10.1016/S0016-5085(99)70510-X. PMID 10348829.
- ↑ Hampel H, de la Chapelle A (2011). "The search for unaffected individuals with Lynch syndrome: do the ends justify the means?". Cancer Prev Res (Phila). 4 (1): 1–5. doi:10.1158/1940-6207.CAPR-10-0345. PMC 3076593. PMID 21205737.
- ↑ 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.
- ↑ Hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015
- ↑ Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.
- ↑ Lynch HT, Drescher K, Knezetic J, Lanspa S (2014). "Genetics, biomarkers, hereditary cancer syndrome diagnosis, heterogeneity and treatment: a review". Curr Treat Options Oncol. 15 (3): 429–42. doi:10.1007/s11864-014-0293-5. PMID 24827900.
- ↑ Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.
- ↑ 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.
- ↑ Treatment of hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer#Treatment Accessed on December 2, 2015