Hereditary nonpolyposis colorectal cancer differential diagnosis: Difference between revisions
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==Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases== | ==Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases== | ||
HNPCC must be differentiated from other diseases causing multiple polyps, such as: | |||
{| | |||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |||
! rowspan="2" |Diseases | |||
! colspan="3" |History and Symptoms | |||
! colspan="3" |Physical Examination | |||
! colspan="3" |Laboratory Findings | |||
! rowspan="2" |Other Findings | |||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |||
!Abdominal Pain | |||
!Rectal Bleeding | |||
!Fatigue | |||
!Abdominal Tenderness | |||
!Hyperpigmentation | |||
!Anemia | |||
!Gene(s) | |||
!Gastrointestinal Tumors | |||
!Cancers | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']] | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Facial]]+ [[Mucous membrane|Mucosal]]+ | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[PRKAR1A]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Thyroid]] | |||
* [[Sertoli-Leydig cell tumor|Sertoli Cell]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* Myxoma of [[skin]] | |||
* Myxoma of [[heart]] | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Familial adenomatous polyposis|Familial Adenomatous Polyposis]]''' | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/– | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[APC (gene)|''APC'' gene]] | |||
* [[MUTYH|''MUTYH'' gene]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Adenoma]]+++ | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Colon (anatomy)|Colon]] | |||
* [[Brain]] | |||
* [[Thyroid]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Desmoid tumor]] | |||
* [[Osteoma]] | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Peutz-Jeghers syndrome|'''Peutz–Jeghers syndrome''']] | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | | |||
* [[STK11]] (LBK1) gene | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Adenoma]]+ | |||
* [[Hamartoma]]+++ | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* Breast | |||
* Lung | |||
* Pancreas | |||
* [[Ovaries]] | |||
* Sertoli cells | |||
* Uterine | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Juvenile polyposis syndrome|Juvenile Polyposis Syndrome]]''' | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* SMAD4 | |||
* [[BMPR1A]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Adenoma]]+ | |||
* [[Hamartoma]]+++ | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Colon (anatomy)|Colon]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Cowden syndrome|'''Cowden Syndrome''']] | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Axillary]]+ [[Inguinal region|Inguinal]]+ [[Facial]]+ | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[PTEN (gene)|PTEN]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Adenoma]]+ | |||
* [[Hamartoma]]+++ | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Breast]] | |||
* [[Thyroid]] | |||
* [[Endometrium]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Trichilemmoma]] | |||
* Skin hamartoma | |||
* Hyperplastic polyp | |||
* Macrocephaly | |||
* Breast fibrosis | |||
|- | |||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Hereditary nonpolyposis colorectal cancer|'''Hereditary Non–Polyposis Colon Cancer''']] | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +/– | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | – | |||
| style="background: #F5F5F5; padding: 5px; text-align: center;" | + | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[MLH1]] | |||
* [[MSH2]] | |||
* [[MSH3]] | |||
* [[MSH6]] | |||
* [[PMS1]] | |||
* [[PMS2]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Adenoma]]+ | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Endometrium]] | |||
* [[Stomach]] | |||
* [[Kidney|Kidneys]] | |||
* [[Ureter]] | |||
* [[Ovary|Ovaries]] | |||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | |||
* [[Sebaceous gland|Sebaceous]] [[adenoma]] | |||
|} | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px" align=center | {| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px" align=center |
Revision as of 23:34, 27 February 2018
Hereditary Nonpolyposis Colorectal Cancer Microchapters |
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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 must be differentiated from other diseases that cause familial colorectal cancer, such as: juvenile polyposis, familial adenomatous polyposis, Cowden syndrome, and MYH-associated polyposis.[1]
Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases
HNPCC must be differentiated from other diseases causing multiple polyps, such as:
Diseases | History and Symptoms | Physical Examination | Laboratory Findings | Other Findings | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Abdominal Pain | Rectal Bleeding | Fatigue | Abdominal Tenderness | Hyperpigmentation | Anemia | Gene(s) | Gastrointestinal Tumors | Cancers | ||
Carney Syndrome | – | – | – | – | – | |||||
Familial Adenomatous Polyposis | + | + | + | +/– | – | + |
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Peutz–Jeghers syndrome | + | + | + | + | + | + |
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||
Juvenile Polyposis Syndrome | + | + | – | – | – |
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||||
Cowden Syndrome | – | – | – | – | – |
| ||||
Hereditary Non–Polyposis Colon Cancer | – | + | + | +/– | – | + |
Differential Diagnosis | Similar Features | Differentiating Features |
---|---|---|
Familial adenomatous polyposis |
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Juvenile polyposis |
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Cowden syndrome |
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References
- ↑ Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.