Von Recklinghausen病に合併した悪性褐色細胞腫の1例

Abstract

症例は48歳女で, 17歳時にvon Recklinghausen病を指摘されていたが, 胸部痛及び腰痛が出現した.CTで左副腎に内部が不均一に造影される径10cmの腫瘍を, また肝にも径2cmの腫瘍を認めた.骨シンチグラフィーでは高集積像が多発し, 131I-MIBGシンチグラフィーでも左副腎腫瘍及び骨シンチグラフィーの高集積部位に一致して高集積像を認めた.原発巣の手術は困難と判断し, 多剤併用化学療法を2コース行ったが効果はなく, 骨転移巣の増大傾向を認めた.全身状態は徐々に悪化し, 麻痺性イレウスなどを併発して発症後1年で死亡した.病理解剖で左副腎に中心部に壊死を伴う腫瘍を認め, 組織学的に核異型の強い腫瘍細胞が充実性に増殖していた

A 48-year-old woman suffering from chest and lumbar pain was referred to our clinic for treatment. She had a history of von Recklinghausen's disease with multiple cafe-au-lait spots and neurofibromatosis. Computed tomography demonstrated a large tumor in the left adrenal gland and a small lesion in the liver, with the levels of plasma and urinary catecholamines being elevated. 131I-metaiodobenzylguanidine (MIBG) scintigraphy showed abnormal accumulations in the left adrenal tumor and multiple-bone lesions. A diagnosis of malignant pheochromocytoma with liver and bone metastases was made, and the patient received chemotherapy. Seven months after the diagnosis of malignant pheochromocytoma, she died of pulmonary edema due to disease progression. Autopsy revealed malignant pheochromocytoma with liver, lung, bone and lymph nodes metastases. We reviewed the literature on pheochromocytoma associated with von Recklinghausen's disease. To our knowledge, only 7 cases of malignant pheochromocytoma associated with von Recklinghausen's disease have been reported in Japan.