One case of endometrial cancer occurrence: Over 10 years after colon cancer in Lynch family
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We have recently experienced an endometrial cancer 12 years after the diagnosis of colon cancer with Lynch syndrome. A 49-year-old Korean woman had a family history of colon cancer. Her mother had colon cancer at 56-year-old, and her brother had colon cancer at 48 years old. The patient received surgery for endometrial cancer at the same hospital 12 years after being treated for colon cancer. Immunohistochemistry showed that her endometrial tissue stained negative for MSH2. A microsatellite instability test was performed and showed the presence of instability high microsatellite instability. An hMLH2 gene mutation was detected at codon 629 codon of exon 12, in which a glutamine was replaced with an arginine (1886A>G [p.Gln629Arg]). To our knowledge, this is the first case of metachronous cancer in a Lynch syndrome family in Korea with a gap of more than ten years between cancer diagnoses.
Abstract
We have recently experienced an endometrial cancer 12 years after the diagnosis of colon cancer with Lynch syndrome. A 49-year-old Korean woman had a family history of colon cancer. Her mother had colon cancer at 56-year-old, and her brother had colon cancer at 48 years old. The patient received surgery for endometrial cancer at the same hospital 12 years after being treated for colon cancer. Immunohistochemistry showed that her endometrial tissue stained negative for MSH2. A microsatellite instability test was performed and showed the presence of instability high microsatellite instability. An hMLH2 gene mutation was detected at codon 629 codon of exon 12, in which a glutamine was replaced with an arginine (1886A>G [p.Gln629Arg]). To our knowledge, this is the first case of metachronous cancer in a Lynch syndrome family in Korea with a gap of more than ten years between cancer diagnoses.
참고문헌 (15)
- Ladabaum U, "Lynch syndrome in patients with colorectal cancer: finding the needle in the haystack", JAMA, 308, pp.1581~1583 (2012)
- Meyer LA, "Endometrial cancer and Lynch syndrome : clinical and pathologic considerations", Cancer Control, 16, pp.14~22 (2009)
- Stuckless S, "Impact of gynecological screening in Lynch syndrome carriers with an MSH2 mutation", Clin Genet, 83, pp.359~364 (2013)
- Vasen HF, "New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC", Gastroenterology, 116, pp.1453~1456 (1999)
- Umar A, "Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability", J Natl Cancer Inst, 96, pp.261~268 (2004)
- Yurgelun MB, "Impact of genetic testing on endometrial cancer risk-reducing practices in women at risk for Lynch syndrome", Gynecol Oncol, 127, pp.544~551 (2012)
- Lancaster JM, "Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions", Gynecol Oncol, 107, pp.159~162 (2007)
- Kyu-Won Jung, "Prediction of Cancer Incidence and Mortality in Korea, 2012", Cancer Research and Treatment, 44(1), pp.15~31 (2012), 대한암학회
- Gruber SB, "A population-based study of endometrial cancer and familial risk in younger women : Cancer and Steroid Hormone Study Group", Cancer Epidemiol Biomarkers Prev, 5, pp.411~417 (1996)
- Schmeler KM, "Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome", N Engl J Med, 354, pp.261~269 (2006)
- Fishel R, "The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer", Cell, 75, pp.1027~1038 (1993)
- Lu KH, "Gynecologic Cancers in Lynch Syndrome", HNPCC, 2005, pp.4, 249~254
- Murphy KM, "Comparison of the microsatellite instability analysis system and the Bethesda panel for the determination of microsatellite instability in colorectal cancers", J Mol Diagn, 8, pp.305~311 (2006)
- Pino MS, "Application of molecular diagnostics for the detection of Lynch syndrome", Expert Rev Mol Diagn, 10, pp.651~665 (2010)
- Gryfe R, "Tumor microsatellite instability and clinical outcome in young patients with colorectal cancer", N Engl J Med, 342, pp.69~77 (2000)