Kobayashi Ryoichiro, Shimizu Akira, Kubota Koji, Notake Tsuyoshi, Sugenoya Shinsuke, Hosoda Kiyotaka, Hayashi Hikaru, Yasukawa Koya, Satoh Yayoi, Iwaya Mai, Sano Kenji, Soejima Yuji
Division of Gastroenterological, Department of Surgery, Hepato-Biliary-Pancreatic, Transplantation and Pediatric Surgery, Shinshu University School of Medicine, Matsumoto, Japan.
Department of Laboratory Medicine, Shinshu University Hospital, Matsumoto, Japan.
Case Rep Oncol. 2021 Sep 20;14(3):1347-1352. doi: 10.1159/000515779. eCollection 2021 Sep-Dec.
Maffucci syndrome is characterized by multiple hemangiomas and enchondromas. Somatic mutations in and are associated with the development of Maffucci syndrome, and these patients develop various malignant nonskeletal tumors in addition to malignant skeletal tumors. We report a case of Maffucci syndrome with mutation complicated by intrahepatic cholangiocarcinoma. The patient was a 35-year-old woman who was diagnosed with Maffucci syndrome in childhood. She was referred to our department because of a large hepatic tumor. Serum carcinoembryonic antigen was 27.1 ng/mL upon laboratory examination. CT scanning showed a large low-density tumor (90 × 70 mm) in the right lobe of the liver, and MRI revealed a multilobulated and fibrous tumor, which was observed as high signal intensity on T2- and diffusion-weighted images and low signal intensity on T1-weighted images. Positron emission tomography-CT revealed peritoneal dissemination and cancer spread to the muscles of the back. Finally, she was diagnosed with intrahepatic cholangiocarcinoma with dissemination and metastases. We performed a tumor biopsy to determine a treatment plan for chemotherapy. Sanger sequencing of a tumor biopsy identified a mutation in at c.394C>T (R132C), but the patient died of rapid cancer progression before the chemotherapy could be initiated. Although rare, malignant tumors can develop in patients with Maffucci syndrome; therefore, it is necessary to monitor these tumors through careful and periodic observation.
马富西综合征的特征为多发性血管瘤和内生软骨瘤。 和 的体细胞突变与马富西综合征的发生有关，并且这些患者除了发生恶性骨肿瘤外，还会发生各种恶性非骨肿瘤。我们报告1例伴有 突变的马富西综合征并发肝内胆管癌的病例。该患者为一名35岁女性，儿童期被诊断为马富西综合征。因肝脏巨大肿瘤转诊至我科。实验室检查血清癌胚抗原为27.1 ng/mL。CT扫描显示肝脏右叶有一个巨大的低密度肿瘤（90×70 mm），MRI显示为分叶状纤维瘤，在T2加权像和扩散加权像上呈高信号强度，在T1加权像上呈低信号强度。正电子发射断层扫描-CT显示有腹膜播散且癌症扩散至背部肌肉。最终，她被诊断为伴有播散和转移的肝内胆管癌。我们进行了肿瘤活检以确定化疗的治疗方案。肿瘤活检的桑格测序确定 在c.394C>T（R132C）处有一个突变，但患者在开始化疗前因癌症快速进展而死亡。尽管罕见，但马富西综合征患者可发生恶性肿瘤；因此，有必要通过仔细和定期观察来监测这些肿瘤。
