Hereditary nonpolyposis colorectal cancer differential diagnosis: Difference between revisions
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[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Hereditary_nonpolyposis_colorectal_cancer]] | |||
{{CMG}}{{AE}}{{MV}}{{Akram}} | {{CMG}}{{AE}}{{MV}}{{Akram}} | ||
==Overview== | ==Overview== | ||
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 polyposis. | [[juvenile polyposis]], [[familial adenomatous polyposis]], [[Cowden syndrome]], and MYH-associated [[Polyp|polyposis]]. | ||
==Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases== | ==Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases== | ||
HNPCC must be differentiated from other diseases, such as:<ref>Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref> | HNPCC must be differentiated from other [[Disease|diseases]], such as:<ref>Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref> | ||
{| | {| | ||
|- style="background: #4479BA; color: #FFFFFF; text-align: center;" | |- style="background: #4479BA; color: #FFFFFF; text-align: center;" | ||
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!Cancers | !Cancers | ||
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| style="background: #DCDCDC; padding: 5px; text-align: center;" | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''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;" | + | ||
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| style="background: #F5F5F5; padding: 5px; text-align: left;" | | | style="background: #F5F5F5; padding: 5px; text-align: left;" | | ||
* [[Thyroid]] | * [[Thyroid]] | ||
* [[Sertoli | * [[Sertoli cell|Sertoli Cell]] | ||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | | style="background: #F5F5F5; padding: 5px; text-align: left;" | | ||
* Myxoma of [[skin]] | * [[Myxoma]] of [[skin]] | ||
* Myxoma of [[heart]] | * [[Myxoma]] of [[heart]] | ||
|- | |- | ||
| style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Familial adenomatous polyposis|Familial Adenomatous Polyposis]]''' | | style="background: #DCDCDC; padding: 5px; text-align: center;" |'''[[Familial adenomatous polyposis|Familial Adenomatous Polyposis]]''' | ||
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| 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 | * [[STK11]] (LBK1) [[gene]] | ||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | | style="background: #F5F5F5; padding: 5px; text-align: left;" | | ||
* [[Adenoma]]+ | * [[Adenoma]]+ | ||
* [[Hamartoma]]+++ | * [[Hamartoma]]+++ | ||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | | style="background: #F5F5F5; padding: 5px; text-align: left;" | | ||
* Breast | * [[Breast]] | ||
* Lung | * [[Lung]] | ||
* Pancreas | * [[Pancreas]] | ||
* [[Ovaries]] | * [[Ovaries]] | ||
* Sertoli cells | * [[Sertoli cell|Sertoli cells]] | ||
* Uterine | * [[Uterus|Uterine]] | ||
| style="background: #F5F5F5; padding: 5px; text-align: left;" | | | style="background: #F5F5F5; padding: 5px; text-align: left;" | | ||
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| style="background: #F5F5F5; padding: 5px; text-align: left;" | | | style="background: #F5F5F5; padding: 5px; text-align: left;" | | ||
* [[Trichilemmoma]] | * [[Trichilemmoma]] | ||
* Skin hamartoma | * [[Skin]] [[hamartoma]] | ||
* Hyperplastic polyp | * [[Colon polyps|Hyperplastic polyp]] | ||
* Macrocephaly | * [[Macrocephaly]] | ||
* Breast fibrosis | * [[Breast]] [[fibrosis]] | ||
|} | |} | ||
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| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" | [[Familial adenomatous polyposis]] | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" | [[Familial adenomatous polyposis]] | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* Familial inheritance, increased risk of colorectal cancer, extra-colonic tumors, and genetic mutations | * [[Inheritance|Familial inheritance]], increased risk of [[colorectal cancer]], extra-[[Colon (anatomy)|colonic]] [[Tumor|tumors]], and [[Mutation|genetic mutations]] | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* Autosomal recessive, 100+ polyps and age under 40, centinel tumors are differently located than hereditary nonpolyposis colorectal cancer, such as: multiple osteomas, dental anomalies, congenital hypertrophy of the retinal pigment epithelium (CHRPE), and APC is the gene affected | * [[Autosomal recessive]], 100+ [[Polyp|polyps]] and age under 40, centinel [[Tumor|tumors]] are differently located than hereditary nonpolyposis colorectal cancer, such as: multiple [[osteomas]], [[dental]] [[Anomaly|anomalies]], congenital [[Hypertrophy (medical)|hypertrophy]] of the [[retinal pigment epithelium]] (CHRPE), and [[APC]] is the [[gene]] affected | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Juvenile polyposis]] | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Juvenile polyposis]] | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* Familial inheritance, autosomal dominant, increased risk of colorectal cancer, extra-colonic tumors, and genetic mutations | * [[Inheritance|Familial inheritance]], [[Dominance relationship|autosomal dominant]], increased risk of [[colorectal cancer]], extra-[[Colon (anatomy)|colonic]] [[Tumor|tumors]], and [[Mutation|genetic mutations]] | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* Gastrointestinal hamartomatous polyps, on physical exam lip pigmentation is common, and STK11 is the gene affected | * [[Gastrointestinal tract|Gastrointestinal]] [[Hamartoma|hamartomatous]] [[polyps]], on physical exam [[lip]] [[Biological pigment|pigmentation]] is common, and [[STK11]] is the [[gene]] affected | ||
|- | |- | ||
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Cowden syndrome]] | | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold; text-align:center;" |[[Cowden syndrome]] | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* Familial inheritance, rare autosomal dominant, increased risk of colorectal cancer, and genetic mutations | * [[Family|Familial]] [[Heredity|inheritance]], rare [[Dominance relationship|autosomal dominant]], increased risk of [[colorectal cancer]], and [[Mutation|genetic mutations]] | ||
| style="padding: 5px 5px; background: #F5F5F5;" | | | style="padding: 5px 5px; background: #F5F5F5;" | | ||
* Intestinal hamartomatous polyps, physical exam may show macrocephaly, and PTEN is the gene affected | * [[Intestine|Intestinal]] [[Hamartoma|hamartomatous]] [[Polyp|polyps]], [[Physical examination|physical exam]] may show [[macrocephaly]], and [[PTEN (gene)|PTEN]] is the [[gene]] affected | ||
|} | |} | ||
Latest revision as of 18:22, 29 April 2019
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]Ali Akram, M.B.B.S.[3]
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.
Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases
HNPCC must be differentiated from other diseases, such as:[1]
Diseases | History and Symptoms | Physical Examination | Laboratory Findings | Other Findings | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Abdominal Pain | Rectal Bleeding | Fatigue | Abdominal Tenderness | Hyperpigmentation | Anemia | Gene(s) | Gastrointestinal Tumors | Cancers | ||
Hereditary Non–Polyposis Colon Cancer | – | + | + | +/– | – | + | ||||
Carney Syndrome | – | – | – | – | – | |||||
Familial Adenomatous Polyposis | + | + | + | +/– | – | + |
|
|||
Peutz–Jeghers syndrome | + | + | + | + | + | + | ||||
Juvenile Polyposis Syndrome | + | + | – | – | – |
|
||||
Cowden Syndrome | – | – | – | – | – |
Differential Diagnosis | Similar Features | Differentiating Features |
---|---|---|
Familial adenomatous polyposis |
|
|
Juvenile polyposis |
|
|
Cowden syndrome |
|
|
References
- ↑ Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.