Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report

BMC Cancer

Case Report

Rahul Gupta¹  Sarra Mestiri²  Ahlem Bdioui²  Mounir Trimech²  Moncef Mokni³  Nihed Abdessayed³ 

[1] Department of HPB surgery, CARE hospital, Hyderabad, India;Department of pathology, Farhat Hached Hospital, Avenue Farhat Hached, 4000, Sousse, Tunisia;Department of pathology, Farhat Hached Hospital, Avenue Farhat Hached, 4000, Sousse, Tunisia;Research Lab: transfer in technology in anatomic pathology (LR12SP08), Sousse, Tunisia;

关键词: Case report;    Neurofibromatosis;    Neuroendocrine tumor;    Gastrointestinal stromal tumor;    Neurofibroma;    Whipple’s operation;   

DOI  :  10.1186/s12885-017-3567-z

 received in 2016-11-09, accepted in 2017-08-18,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundNeurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors. Although coexistence of multiple tumors of different types is frequent in neurofibromatosis type 1, simultaneous occurrence of abdominal tumors of three types in very rare.Case presentationA 66-year-old lady with neurofibromatosis type 1 presented with painless progressive jaundice for six months. Laboratory investigations revealed iron deficiency anemia and conjugated hyperbilirubinemia. Tumor markers were normal. Abdominal computed tomography showed a 3 × 2 cm heterogenous mass in the periampullary region with mild dilation of the common bile duct and another 2 × 1.7 cm mass in the fourth portion of the duodenum. Endoscopic biopsy confirmed the diagnosis of periampullary carcinoid. At surgery, multiple small nodules were detected at the hepatic hilum. Frozen section suggested them to be neurofibromas. Patient underwent pancreatoduodenectomy and had uneventful recovery with no recurrence at two months. Microscopic examination of the resected specimen confirmed presence of three tumors: periampullary well differentiated neuroendocrine tumor, gastrointestinal stromal tumor of the fourth part of duodenum and plexiform neurofibroma at the hepatic hilum.ConclusionPatients of neurofibromatosis type 1 with abdominal symptoms should be treated with high index of clinical suspicion and thoroughly evaluated to rule out multiple tumors.

【 授权许可】

CC BY   
© The Author(s). 2017