Hereditary nonpolyposis colorectal cancer overview
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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 (HNPCC) is characterized by an increased risk of colorectal cancer and other cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. It accounts for about 3-5% of colorectal cancer cases. HNPCC is subdivided into Lynch Syndrome I (familial colon cancer) and Lynch Syndrome II (other cancer of the gastrointestinal system or the reproductive system). The increased risk for these cancers is due to inherited mutations that degrade the self-repair capability of DNA. In the United States, about 160,000 new cases of colorectal cancer are diagnosed each year. The Amsterdam clinical criteria identifies candidates for genetic testing, and genetic testing can make a diagnosis of HPNCC. Surgery remains the mainstay therapy for HNPCC.[1]
Historical Perspective
Lynch syndrome was named in honor of Dr. Henry T. Lynch, an American physician and professor of medicine at Creighton University Medical Center in 1966.[2]
Classification
Hereditary nonpolyposis colorectal cancer may be classified according to MSI-H into 3 subtypes: right-sided poorly differentiated cancers, right-sided mucinous cancers, and adenocarcinomas in any location showing any measurable level of intraepithelial lymphocyte (TIL). In addition, HNPCC can be divided into Lynch syndrome I (familial colon cancer) and Lynch syndrome II (HNPCC associated with other cancers of the gastrointestinal tract or reproductive system).[3]
Pathophysiology
HNPCC is an autosomal dominant genetic disease characterized by the early onset of colon cancer, endometrial cancer and other malignant tumors caused by genetic mutations, that lead to an accumulation of DNA mismatches in MMR gene.[4] HNPCC occurs mostly in the proximal colon.
Causes
Hereditary nonpolyposis colorectal cancer is caused by a genetic mutation in MMR gene, that results in defective repair of DNA sequence.[4]
Differentiating Hereditary nonpolyposis colorectal cancer from other Diseases
Hereditary nonpolyposis colorectal cancer must be differentiated from other diseases that cause colon cancer, such as juvenile polyposis, MYH-associated polyposis, and Familial Adenomatous Polyposis.
Epidemiology and Demographics
The prevalence of hereditary nonpolyposis colorectal cancer is approximately 2-7% of all diagnosed cases of colorectal cancer.[5]
Risk Factors
The most potent risk factor in the development of hereditary nonpolyposis colorectal cancer is gene mutations caused by defective DNA mismatch repair. There are no other risk factors associated with this condition.[4]
Screening
According to the Bethesda guidelines and Amsterdam criteria, screening for HNPCC by genetic testing is recommended among patients with family history or/and a confirmed diagnosis of colorectal cancer under age 50 years.[6][7]
Natural History, Complications and Prognosis
Diagnosis
Staging
History and Symptoms
Physical Examination
Laboratory Findings
Chest X-ray
CT Scan
MRI
Other Diagnostic Studies
Treatment
Medical Therapy
There is no medical treatment for hereditary nonpolyposis colorectal cancer.[4][8]
Surgery
Surgery is the mainstay of treatment for hereditary nonpolyposis colorectal cancer.[9]
Case Studies
See also
References
- ↑ Hereditary nonpolyposis colorectal cancer. Wikipedia. https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015
- ↑ Lynch HT, Lynch JF (1985). "Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II): a common genotype linked to oncogenes?". Med. Hypotheses. 18 (1): 19–28. PMID 4069033.
- ↑ Hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer Accessed on December 01, 2015
- ↑ 4.0 4.1 4.2 4.3 Si JW, Wang L, Ba XJ, Zhang X, Dong Y, Zhang JX, Li WT, Li T (2015). "[Clinicopathological screening of Lynch syndrome: a report of 2 cases and literature review]". Beijing Da Xue Xue Bao (in Chinese). 47 (5): 858–64. PMID 26474631.
- ↑ Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, Chadwick RB, Kääriäinen H, Eskelinen M, Järvinen H, Mecklin JP, de la Chapelle A (1998). "Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease". N. Engl. J. Med. 338 (21): 1481–7. doi:10.1056/NEJM199805213382101. PMID 9593786.
- ↑ Vasen HF, Watson P, Mecklin JP, Lynch HT (Jun 1999). "New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC". Gastroenterology. 116 (6): 1453–6. doi:10.1016/S0016-5085(99)70510-X. PMID 10348829.
- ↑ Hampel H, de la Chapelle A (2011). "The search for unaffected individuals with Lynch syndrome: do the ends justify the means?". Cancer Prev Res (Phila). 4 (1): 1–5. doi:10.1158/1940-6207.CAPR-10-0345. PMC 3076593. PMID 21205737.
- ↑ Hendriks YM, de Jong AE, Morreau H, Tops CM, Vasen HF, Wijnen JT, Breuning MH, Bröcker-Vriends AH (2006). "Diagnostic approach and management of Lynch syndrome (hereditary nonpolyposis colorectal carcinoma): a guide for clinicians". CA Cancer J Clin. 56 (4): 213–25. PMID 16870997.
- ↑ Treatment of hereditary nonpolyposis colorectal cancer.Wikipedia.https://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer#Treatment Accessed on December 2, 2015