TY - JOUR
T1 - Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation
T2 - A case report
AU - Adachi, Masataka
AU - Banno, Kouji
AU - Masuda, Kenta
AU - Yanokura, Megumi
AU - Iijima, Moito
AU - Takeda, Takashi
AU - Kunitomi, Haruko
AU - Kobayashi, Yusuke
AU - Yamagami, Wataru
AU - Hirasawa, Akira
AU - Kameyama, Kaori
AU - Sugano, Kokichi
AU - Aoki, Daisuke
N1 - Publisher Copyright:
© 2016 Japan Society of Obstetrics and Gynecology
PY - 2017/2/1
Y1 - 2017/2/1
N2 - Endometrial cancer in the lower uterine segment (LUS) is associated with Lynch syndrome with MLH1 or MSH2 germline mutation. Here, we report a case of carcinoma of the LUS diagnosed with Lynch syndrome based on MSH6 germline mutation in a 46-year-old woman with abnormal vaginal bleeding. She had had rectal cancer at age 39 with a family history of colon cancer (father, 75 years), pancreatic cancer (paternal grandmother, 74 years), and colon cancer (maternal grandmother, 85 years). Magnetic resonance imaging showed a tumor in the LUS. Endometrial biopsy revealed endometrioid adenocarcinoma G1. As her cancer history met the revised Bethesda criteria, we examined microsatellite instability and the result was negative, but loss of the MSH6 expression was detected by immunohistochemistry. Genetic testing revealed deleterious germline mutation of MSH6, which was compatible with Lynch syndrome. To our knowledge, this is the first case of endometrial carcinoma of the LUS with MSH6 germline mutation.
AB - Endometrial cancer in the lower uterine segment (LUS) is associated with Lynch syndrome with MLH1 or MSH2 germline mutation. Here, we report a case of carcinoma of the LUS diagnosed with Lynch syndrome based on MSH6 germline mutation in a 46-year-old woman with abnormal vaginal bleeding. She had had rectal cancer at age 39 with a family history of colon cancer (father, 75 years), pancreatic cancer (paternal grandmother, 74 years), and colon cancer (maternal grandmother, 85 years). Magnetic resonance imaging showed a tumor in the LUS. Endometrial biopsy revealed endometrioid adenocarcinoma G1. As her cancer history met the revised Bethesda criteria, we examined microsatellite instability and the result was negative, but loss of the MSH6 expression was detected by immunohistochemistry. Genetic testing revealed deleterious germline mutation of MSH6, which was compatible with Lynch syndrome. To our knowledge, this is the first case of endometrial carcinoma of the LUS with MSH6 germline mutation.
KW - Lynch syndrome
KW - MSH6 gene
KW - colorectal cancer
KW - endometrial cancer
KW - lower uterine segment
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U2 - 10.1111/jog.13202
DO - 10.1111/jog.13202
M3 - Article
C2 - 27928858
AN - SCOPUS:85006470354
SN - 1341-8076
VL - 43
SP - 416
EP - 420
JO - Journal of Obstetrics and Gynaecology Research
JF - Journal of Obstetrics and Gynaecology Research
IS - 2
ER -
