Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea
2
조회
0
다운로드
0
인용
0
참고문헌
초록
We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynchsyndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history ofendometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 (MLH1)and positive for MutS homolog 2 (MSH2). Based on these findings, she underwent genetic counseling and testing that revealed aframeshift germline mutation at MSH6 (c. 3261dupC). (J Menopausal Med 2017;23:69-73)
Abstract
We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynchsyndrome. A 60-year-old Korean woman had a personal history of colon cancer 23 years ago. She also had a family history ofendometrial cancer and colon cancer of her sisters and brothers. Immunohistochemistry was negative for MutL homolog 1 (MLH1)and positive for MutS homolog 2 (MSH2). Based on these findings, she underwent genetic counseling and testing that revealed aframeshift germline mutation at MSH6 (c. 3261dupC). (J Menopausal Med 2017;23:69-73)
참고문헌 (17)
- Meyer LA, "Endometrial cancer and Lynch syndrome: clinical and pathologic considerations", Cancer Control, 16, pp.14~22 (2009)
- Bonadona V, "Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome", JAMA, 305, pp.2304~2310 (2011)
- Jasperson KW, "Hereditary and familial colon cancer", Gastroenterology, 138, pp.2044~2058 (2010)
- Provenzale D, "Genetic", familial high-risk assessment:colorectal version 1.2016, NCCN clinical practice guidelines in oncology, 2016, pp.14, 1010~1030
- American Congress of Obstetricians and Gynecologists Committee on Genetics, "Committee opinion no. 634:Hereditary cancer syndromes and risk assessment", Obstet Gynecol, 125, pp.1538~1543 (2015)
- Hall MJ, "Genetic testing for hereditary cancer predisposition: BRCA1", 2, Lynch syndrome, and beyond, 2016, pp.140, 565~574
- Barrow E, "Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations", Clin Genet, 75, pp.141~149 (2009)
- Peltomäki P, "Update on Lynch syndrome genomics", Fam Cancer, 15, pp.385~393 (2016)
- Lancaster JM, "Society of gynecologic oncology statement on risk assessment for inherited gynecologic cancer predispositions", Gynecol Oncol, 136, pp.3~7 (2015)
- Lim MC, "Hereditary non-polyposis colorectal cancer", Lynch syndrome in Korean patients with endometrial cancer, 2010, pp.40, 1121~1127
- 신소현, "Characteristics of hereditary nonpolyposis colorectal cancer patients with double primary cancers in endometrium and colorectum", Obstetrics & Gynecology Science, 58(2), pp.112~116 (2015), 대한산부인과학회[DOI]
- 허은진, "A Case of Perimenopausal Endometrial Cancer in a Woman with MSH2 Germline Mutation", 대한폐경학회지, 19(3), pp.143~146 (2013), 대한폐경학회
- Park JG, "Suspected HNPCC and Amsterdam criteria II: evaluation of mutation detection rate, an international collaborative study", Int J Colorectal Dis, 17, pp.109~114 (2002)
- Mutter GL, "Pathology of the female reproductive tract" (2014), Churchill Livingstone
- Setiawan VW, "Type I and II endometrial cancers: have they different risk factors?", J Clin Oncol, 31, pp.2607~2618 (2013)
- Broaddus RR, "Pathologic features of endometrial carcinoma associated with HNPCC: a comparison with sporadic endometrial carcinoma", Cancer, 106, pp.87~94 (2006)
- Clarke BA, "Identifying Lynch syndrome in patients with endometrial carcinoma: shortcomings of morphologic and clinical schemas", Adv Anat Pathol, 19, pp.231~238 (2012)