胚軸c-kit遺伝子変異を有する家族性多発性消化管間葉系腫瘍に対する腹腔鏡下手術

Laparoscopic surgery for familial multiple gastrointestinal stromal tumors with germ line c-kit gene mutation.

• Masahiro Hashimoto
• Tsuyoshi Takahashi
• Kiyokazu Nakajima
• Yukinori Kurokawa
• Yasuhiro Miyazaki
• Koji Tanaka
• Tomoki Makino
• Makoto Yamasaki
• Hidetoshi Eguchi
• Masaki Mori
• Yuichiro Doki

抄録

家族性胃腸間質腫瘍（GIST）は、c-kit遺伝子と血小板由来成長因子受容体α遺伝子の変異を特徴とする極めて稀な疾患である。我々は、胃および小腸に多発性粘膜下腫瘍（SMT）を有する73歳女性の症例を報告する。姉は以前に検査で複数のSMTを呈したが、経過観察中に腫瘍が大きくなる傾向を示したため、腫瘍を除去するための手術を受けた。姉の腫瘍は病理学的にGISTと診断され、c-kitのエクソン17に生殖細胞株変異が認められた。その後、この患者は複数のSMTと妹と同じ生殖細胞株変異を呈した。9年間の経過観察の後、1つの腫瘍が大きくなっていることが判明し、このSMTに対してSILSが行われた。我々の知る限りでは、家族性GISTに対して腹腔鏡手術を行った最初の報告である。

Familial gastrointestinal stromal tumor (GIST) is an exceedingly rare disease characterized by mutations in the c-kit and platelet-derived growth factor receptor alpha genes. We report the case of a 73-year-old woman with multiple submucosal tumors (SMTs) in the stomach and small intestine. Her elder sister had previously presented with multiple SMTs on examination and underwent surgery to remove the tumors because they showed a tendency to increase in size during follow-up. The sister's tumors were pathologically diagnosed as GISTs, and a germ line mutation was recognized in exon 17 of c-kit. Subsequently, the patient presented with multiple SMTs and the same germ line mutation as her sister. After 9 years of follow-up, a single tumor was found to have grown in size, and SILS was performed for this SMT, which was also pathologically diagnosed as a GIST. To our knowledge, this is the first report of laparoscopic surgery for a case of familial GIST.

© 2020 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and John Wiley & Sons Australia, Ltd.