Hereditary and familial colorectal cancer Pathophysiology: Difference between revisions

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==Associated conditions==
==Associated conditions==
Approximately 5% of all the cases are associated with highly penetrant inherited mutations.
Lynch syndrome:
* Endometrial cancer is the most common extra-colonic malignancy associated with this syndrome. (Lynch syndrome causes approximately 2% of all endometrial cancers)<ref name="pmid16885385">{{cite journal |author=Hampel H, Frankel W, Panescu J, ''et al.'' |title=Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients |journal=Cancer Res. |volume=66 |issue=15 |pages=7810–7 |year=2006 |month=August |pmid=16885385 |doi=10.1158/0008-5472.CAN-06-1114 |url=}}</ref>
* Other cancers associated with Lynch syndrome: gastric, ovarian, hepatobiliary tract, upper urinary tract, small bowel, brain (glioblastoma) and pancreatic <ref name="pmid17938238">{{cite journal |author=Rustgi AK |title=The genetics of hereditary colon cancer |journal=Genes Dev. |volume=21 |issue=20 |pages=2525–38 |year=2007 |month=October |pmid=17938238 |doi=10.1101/gad.1593107 |url=}}</ref> <ref name="pmid19861671">{{cite journal |author=Kastrinos F, Mukherjee B, Tayob N, ''et al.'' |title=Risk of pancreatic cancer in families with Lynch syndrome |journal=JAMA |volume=302 |issue=16 |pages=1790–5 |year=2009 |month=October |pmid=19861671 |doi=10.1001/jama.2009.1529 |url=}}</ref>.
* Other: keratoacanthomas, sebaceous adenomas/carcinomas.
Familial adenomatous polyposis (FAP)
* Polyps of the Upper gastrointestinal tract.
** Gastric fundic gland polyps: found in approximately 50% of individuals,and can be profuse <ref name="pmid14598262">{{cite journal |author=Burt RW |title=Gastric fundic gland polyps |journal=Gastroenterology |volume=125 |issue=5 |pages=1462–9 |year=2003 |month=November |pmid=14598262 |doi= |url=}}</ref>
** Adenomatous polyps in the stomach: usually located in the antrum, less common than fundic gland polyps.
** Dysplastic changes in fundic gland polyps: common, no concern unless dysplasia is severe<ref name="pmid18237868">{{cite journal |author=Bianchi LK, Burke CA, Bennett AE, Lopez R, Hasson H, Church JM |title=Fundic gland polyp dysplasia is common in familial adenomatous polyposis |journal=Clin. Gastroenterol. Hepatol. |volume=6 |issue=2 |pages=180–5 |year=2008 |month=February |pmid=18237868 |doi=10.1016/j.cgh.2007.11.018 |url=}}</ref>
** Adenomatous polyps in the duodenum: found in approximately 50% of individuals, commonly found in the second and third portions of duodenum. (Duodenal cancer is the second most common malignancy in FAP or attenuated FAP <ref name="pmid14960520">{{cite journal |author=Bülow S, Björk J, Christensen IJ, ''et al.'' |title=Duodenal adenomatosis in familial adenomatous polyposis |journal=Gut |volume=53 |issue=3 |pages=381–6 |year=2004 |month=March |pmid=14960520 |pmc=1773976 |doi= |url=}}</ref>.
* Additional cancers: colon, duodenum, periampullary, stomach, thyroid, hepatoblastoma, medulloblastoma.
* Other: osteomas (skull and mandible), congenital hypertrophy of the retinal pigment epithelium (CHRPE), epidermoid cysts, fibromas, dental abnormalities, and desmoids <ref name="pmid17410559">{{cite journal |author=Speake D, Evans DG, Lalloo F, Scott NA, Hill J |title=Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations |journal=Br J Surg |volume=94 |issue=8 |pages=1009–13 |year=2007 |month=August |pmid=17410559 |doi=10.1002/bjs.5633 |url=}}</ref>.
MUTYH-associated polyposis
* Gastric and duodenal polyps (11% and 17% of patients)
* Duodenal cancer
* Other: ovarian, bladder, skin, sebaceous gland tumors and possibly breast cancer.
Hamartomatous polyposis conditions:
* Peutz-Jeghers syndrome (PJS)
** Cancer: Breast, colon, pancreas, stomach, ovary, lung, small bowel, uterine, cervix, testicle.
** Other: mucocutaneous pigmentation, gastrointestinal hamartomatous polyps.
* Juvenile polyposis syndrome (JPS)
** Cancer: colon, stomach, pancreas, small bowel.
** Other: gastrointestinal hamartomatous (juvenile) polyps, HHT, congenital defects.
Hyperplastic polyposis (HPP)
* Cancer: colon
* Other:Hyperplastic polyps, sessile serrated polyps, traditional serrated adenomas and mixed adenomas.
==References==
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==Gross Pathology==
==Gross Pathology==

Revision as of 05:13, 12 March 2013

Genetics

Associated conditions

Approximately 5% of all the cases are associated with highly penetrant inherited mutations.

Lynch syndrome:

  • Endometrial cancer is the most common extra-colonic malignancy associated with this syndrome. (Lynch syndrome causes approximately 2% of all endometrial cancers)[1]
  • Other cancers associated with Lynch syndrome: gastric, ovarian, hepatobiliary tract, upper urinary tract, small bowel, brain (glioblastoma) and pancreatic [2] [3].
  • Other: keratoacanthomas, sebaceous adenomas/carcinomas.


Familial adenomatous polyposis (FAP)

  • Polyps of the Upper gastrointestinal tract.
    • Gastric fundic gland polyps: found in approximately 50% of individuals,and can be profuse [4]
    • Adenomatous polyps in the stomach: usually located in the antrum, less common than fundic gland polyps.
    • Dysplastic changes in fundic gland polyps: common, no concern unless dysplasia is severe[5]
    • Adenomatous polyps in the duodenum: found in approximately 50% of individuals, commonly found in the second and third portions of duodenum. (Duodenal cancer is the second most common malignancy in FAP or attenuated FAP [6].
  • Additional cancers: colon, duodenum, periampullary, stomach, thyroid, hepatoblastoma, medulloblastoma.
  • Other: osteomas (skull and mandible), congenital hypertrophy of the retinal pigment epithelium (CHRPE), epidermoid cysts, fibromas, dental abnormalities, and desmoids [7].


MUTYH-associated polyposis

  • Gastric and duodenal polyps (11% and 17% of patients)
  • Duodenal cancer
  • Other: ovarian, bladder, skin, sebaceous gland tumors and possibly breast cancer.


Hamartomatous polyposis conditions:

  • Peutz-Jeghers syndrome (PJS)
    • Cancer: Breast, colon, pancreas, stomach, ovary, lung, small bowel, uterine, cervix, testicle.
    • Other: mucocutaneous pigmentation, gastrointestinal hamartomatous polyps.
  • Juvenile polyposis syndrome (JPS)
    • Cancer: colon, stomach, pancreas, small bowel.
    • Other: gastrointestinal hamartomatous (juvenile) polyps, HHT, congenital defects.


Hyperplastic polyposis (HPP)

  • Cancer: colon
  • Other:Hyperplastic polyps, sessile serrated polyps, traditional serrated adenomas and mixed adenomas.


References

  1. ↑ Hampel H, Frankel W, Panescu J; et al. (2006). "Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients". Cancer Res. 66 (15): 7810–7. doi:10.1158/0008-5472.CAN-06-1114. PMID 16885385. Unknown parameter |month= ignored (help)
  2. ↑ Rustgi AK (2007). "The genetics of hereditary colon cancer". Genes Dev. 21 (20): 2525–38. doi:10.1101/gad.1593107. PMID 17938238. Unknown parameter |month= ignored (help)
  3. ↑ Kastrinos F, Mukherjee B, Tayob N; et al. (2009). "Risk of pancreatic cancer in families with Lynch syndrome". JAMA. 302 (16): 1790–5. doi:10.1001/jama.2009.1529. PMID 19861671. Unknown parameter |month= ignored (help)
  4. ↑ Burt RW (2003). "Gastric fundic gland polyps". Gastroenterology. 125 (5): 1462–9. PMID 14598262. Unknown parameter |month= ignored (help)
  5. ↑ Bianchi LK, Burke CA, Bennett AE, Lopez R, Hasson H, Church JM (2008). "Fundic gland polyp dysplasia is common in familial adenomatous polyposis". Clin. Gastroenterol. Hepatol. 6 (2): 180–5. doi:10.1016/j.cgh.2007.11.018. PMID 18237868. Unknown parameter |month= ignored (help)
  6. ↑ Bülow S, Björk J, Christensen IJ; et al. (2004). "Duodenal adenomatosis in familial adenomatous polyposis". Gut. 53 (3): 381–6. PMC 1773976. PMID 14960520. Unknown parameter |month= ignored (help)
  7. ↑ Speake D, Evans DG, Lalloo F, Scott NA, Hill J (2007). "Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations". Br J Surg. 94 (8): 1009–13. doi:10.1002/bjs.5633. PMID 17410559. Unknown parameter |month= ignored (help)

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Gross Pathology

Microscopic Pathology

Genetics

References

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