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}} | ||
==Overview== | ==Overview== | ||
Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause | Hereditary nonpolyposis colorectal cancer must be differentiated from other [[Disease|diseases]] that cause [[Family|familial]] [[colorectal cancer]], such as: | ||
juvenile polyposis, | [[juvenile polyposis]], [[familial adenomatous polyposis]], [[Cowden syndrome]], and MYH-associated [[Polyp|polyposis]]. | ||
== | ==Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases== | ||
{| style="border: 0px; font-size: 90%; margin: 3px; width: | 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> | ||
|valign= | |||
{| | |||
|- 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;" |'''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="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 cell|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 cell|Sertoli cells]] | |||
* [[Uterus|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]] | |||
* [[Colon polyps|Hyperplastic polyp]] | |||
* [[Macrocephaly]] | |||
* [[Breast]] [[fibrosis]] | |||
|} | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px" align="center" | |||
| valign="top" | | |||
|+ | |+ | ||
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differential Diagnosis}} | ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differential Diagnosis}} | ||
Line 14: | Line 160: | ||
! style="background: #4479BA; width: 300px;" | {{fontcolor|#FFF|Differentiating Features}} | ! style="background: #4479BA; width: 300px;" | {{fontcolor|#FFF|Differentiating Features}} | ||
|- | |- | ||
| 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 | * [[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 | * [[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, | * [[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 | * [[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;" | | ||
* | * [[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, gene affected | * [[Intestine|Intestinal]] [[Hamartoma|hamartomatous]] [[Polyp|polyps]], [[Physical examination|physical exam]] may show [[macrocephaly]], and [[PTEN (gene)|PTEN]] is the [[gene]] affected | ||
|} | |} | ||
==References== | ==References== | ||
{{reflist| | {{reflist|1}} | ||
[[Category:Disease]] | [[Category:Disease]] | ||
[[Category:Types of cancer]] | [[Category:Types of cancer]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
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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.