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

Abstract

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.

Intraductal papillary bile duct adenocarcinoma and gastrointestinal stromal tumor in a case of neurofibromatosis type 1

“…Although there were similar cases of periampullary tumors with GIST in NF-1 patients[ 17 , 18 ] or GIST and somatostatinoma in patients with Von Recklinghausen’s Disease[ 19 ], this is the first case in the global literature to demonstrate synchronous IPNB and GIST in a patient with NF-1. According to the references, the prognosis is determined by depth of invasion, component of invasive carcinoma, and grade[ 12 ].…”

Spectrum of gastrointestinal lesions of neurofibromatosis type 1: a pictorial review

“…The coexistence of multiple tumours of different types is frequent in neurofibromatosis type 1 because of variable penetrance of the autosomal gene [ 17 ]. The patient may be subject to one or more tumours in synchronous or metachronous fashion [ 19 ].…”

“…They tend to grow to large sizes and may cause substantial disfigurement [ 12 , 13 ]. Plexiform neurofibromas are seen exclusively in NF1; they are thought to be congenital and usually manifest early in life with an incidence of 15–30% [ 19 , 22 ]. In the abdomen, they are most commonly found in the abdomino-pelvic wall and retro-peritoneum.…”

“…NETs are reported in about 1% of individuals with NF1 [ 19 ]. NF1-related NETs are among other inherited syndromes such as multiple endocrine neoplasia type 1 syndrome or tuberous sclerosis [ 29 ].…”

“…NF1-related NETs are among other inherited syndromes such as multiple endocrine neoplasia type 1 syndrome or tuberous sclerosis [ 29 ]. Clinical symptoms are multiple and variable depending on the tumour size, compression and spread [ 19 ]. NF1-related NET may involve any part of the GI tract with special affinity for the duodenal and peri-ampullary region.…”