Shinozaki Hiroharu, Sasakura Yuuichi, Shinozaki Satoshi, Terauchi Toshiaki, Matsui Junichi, Kobayashi Kenji, Lefor Alan Kawarai, Ogata Yoshiro
Department of Surgery, Saiseikai Utsunomiya Hospital, Utsunomiya, Japan.
Shinozaki Medical Clinic, Utsunomiya, Japan.
Case Rep Gastroenterol. 2021 Feb 1;15(1):108-114. doi: 10.1159/000510210. eCollection 2021 Jan-Apr.
Neurofibromatosis type 1 (NF-1) is strongly associated with neurofibromas and malignancies. Solid pancreatic neuroendocrine tumors (PanNETs) have been recently reported in patients with NF-1. PanNETs are always solid and rarely present with a cystic appearance due to central necrosis and hemorrhage caused by rapid growth. A 33-year-old female diagnosed with NF-1 at age 16 was referred for evaluation of a pelvic mass found on abdominal ultrasound. Magnetic resonance imaging showed a 6 cm solid pelvic mass adjacent to the left external iliac artery, and contrast-enhanced computed tomography scan showed a 3-cm solid para-aortic mass and a 3-cm cystic mass in the pancreatic tail. Endoscopic ultrasonography showed a cystic tumor with necrotic tissue and septa. Preoperative diagnosis was pancreatic cystic malignancy with para-aortic lymph node metastasis accompanied with a pelvic neurofibroma. These lesions were resected simultaneously. The specimen resected from the pancreas showed a necrotizing cystic tumor invading abutting lymph nodes. Immunohistochemical analysis showed positive chromogranin A and synaptophysin. The Ki-67 index was <1%, and the mitotic count was 1/10 in high power field. Therefore, a non-functional PanNET (grade G1) was diagnosed. The pelvic and para-aortic tumors were both neurofibromas. A cystic appearance is atypical for PanNET and makes preoperative diagnosis difficult. To the best of our knowledge, this is the first report of a cystic PanNET in a patient with NF-1.
1型神经纤维瘤病（NF-1）与神经纤维瘤和恶性肿瘤密切相关。最近有报道称NF-1患者出现实性胰腺神经内分泌肿瘤（PanNETs）。PanNETs通常为实性，由于快速生长导致的中央坏死和出血，很少呈现囊性外观。一名16岁时被诊断为NF-1的33岁女性因腹部超声发现盆腔肿块而前来评估。磁共振成像显示左髂外动脉旁有一个6厘米的实性盆腔肿块，增强计算机断层扫描显示胰腺尾部有一个3厘米的实性腹主动脉旁肿块和一个3厘米的囊性肿块。内镜超声显示一个有坏死组织和间隔的囊性肿瘤。术前诊断为胰腺囊性恶性肿瘤伴腹主动脉旁淋巴结转移及盆腔神经纤维瘤。这些病变同时被切除。从胰腺切除的标本显示为一个坏死性囊性肿瘤，侵犯了相邻的淋巴结。免疫组织化学分析显示嗜铬粒蛋白A和突触素呈阳性。Ki-67指数<1%，高倍视野下有丝分裂计数为1/10。因此，诊断为无功能PanNET（G1级）。盆腔和腹主动脉旁肿瘤均为神经纤维瘤。PanNET出现囊性外观不典型，术前诊断困难。据我们所知，这是首例NF-1患者出现囊性PanNET的报道。
