A case of multiple endocrine neoplasia type 1 during long -term follow-up

症例は54歳の男性で,36歳時より胃潰瘍の診断で内服加療中であった.42歳時に多発性空腸潰瘍穿孔に対する手術歴がある.術後再穿孔を認めZollinger-Ellison症候群の診断で膵頭十二指腸切除術が施行された.病理組織学的に十二指腸粘膜下ガストリノーマ,非機能性膵神経内分泌腫瘍が確認された.2007年4月,CT検査にて膵尾部腫瘍を指摘される．ホルモン過剰症状,腫瘍マーカー値の上昇を認めず経過観察とされていた.2011年4月,腰背部痛を主訴に近医を受診した.CT,PET検査で膵尾部に39×27mm大の腫瘤を認め,悪性病変が疑われた.2011年7月,脾合併膵尾部切除術を施行した.病理組織学的に,非機能性膵神経内分泌腫瘍と診断された.MEN1遺伝子解析の結果,変異を認め,多発性内分泌腫瘍症1型と診断した.術後6年経過した現在,無再発生存中である.長期フォローアップ中の多発性内分泌腫瘍症1型の1例を経験したので,若干の文献的考察を加え報告する.

The case was a 54-year-old male patient. He had a medical history of gastric ulcer. At the age of 42, he was performed partial resection of the jejunum due to perforation of multiple jejunal ulcers. After the initial surgery, he was again diagnosed with gastrointestinal perforations. Zollinger-Ellison Syndrome was strongly suspected and pancreaticoduodenectomy was performed. Histological examination of the resected specimen revealed multiple duodenal submucosal gastrinomas and non-functioning pancreatic neuroendocrine tumors. He visited a neighboring hospital because of a back pain in April 2011. Computed tomography(CT)and fluorine-18 deoxyglucose positron emission tomography(FDG-PET)revealed a tumor in the tail of the pancreas measuring 39×27mm in diameter, and suspected a malignant tumor. Distal pancreatectomy and splenectomy was performed in July 2011. The final pathological diagnosis was non-functional pancreatic neuroendocrine tumor. We performed genetic testing on him and mutation of the MEN1 gene was identified.The patient was therefore diagnosed as multiple endocrine neoplasia type 1. No recurrence was noted within the 6 years since undergoing the operation. We experienced a case of multiple endocrine neoplasia type 1 during long-term follow-up and report this case with some literature reviews.

多発性内分泌腫瘍症1型

非機能性膵神経内分泌腫瘍

Zollinger-Ellison症候群