Hereditary nonpolyposis colorectal cancer differential diagnosis: Difference between revisions
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==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 diseases that cause familial colorectal cancer, such as: | ||
[[juvenile polyposis]], [[familial adenomatous polyposis]], [[Cowden syndrome]], and MYH-associated polyposis.<ref> Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref> | [[juvenile polyposis]], [[familial adenomatous polyposis]], [[Cowden syndrome]], and MYH-associated polyposis.<ref>Kladny J, Lubinski J. Lynch syndrome (HNPCC). Hered Cancer Clin Pract. 2008;6(2):99-102.</ref> | ||
==Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases== | ==Differentiating Hereditary Nonpolyposis Colorectal Cancer from other Diseases== | ||
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!Gastrointestinal Tumors | !Gastrointestinal Tumors | ||
!Cancers | !Cancers | ||
|- | |||
| 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="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']] | | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Carney syndrome|'''Carney Syndrome''']] | ||
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* Macrocephaly | * Macrocephaly | ||
* Breast fibrosis | * Breast fibrosis | ||
|} | |} | ||
{| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px" align="center" | |||
| valign="top" | | |||
{| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px" align=center | |||
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|+ | |+ | ||
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differential Diagnosis}} | ! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differential Diagnosis}} | ||
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! 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, and genetic mutations | * Familial inheritance, increased risk of colorectal cancer, extra-colonic tumors, and 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+ 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 | ||
|- | |- | ||
| 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 | * Familial inheritance, autosomal dominant, increased risk of colorectal cancer, extra-colonic tumors, and 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 hamartomatous polyps, on physical exam lip 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 | * Familial inheritance, rare autosomal dominant, increased risk of colorectal cancer, and 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 | * Intestinal hamartomatous polyps, physical exam may show macrocephaly, and PTEN is the gene affected | ||
|} | |} |
Revision as of 23:34, 27 February 2018
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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 | ||||||
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Abdominal Pain | Rectal Bleeding | Fatigue | Abdominal Tenderness | Hyperpigmentation | Anemia | Gene(s) | Gastrointestinal Tumors | Cancers | ||
Hereditary Non–Polyposis Colon Cancer | – | + | + | +/– | – | + | ||||
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 | – | – | – | – | – |
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Differential Diagnosis | Similar Features | Differentiating Features |
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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.