Gastric GIST with synchronous neuroendocrine tumour of the pancreas in a patient without neurofibromatosis type 1

Abstract

SummaryThe gastrointestinal stromal tumours (GISTs) are the most common mesenchymal tumours of the gastrointestinal tract. These are rare tumours with an incidence of 15 new cases per million per year. The occurrence of neuroendocrine tumours of the pancreas is rare, representing 1-5% of pancreatic cancers, and it is estimated that its incidence does not exceed five to one million. GISTs are common in patients with neurofibromatosis type 1 (NF1); there are few reported cases of synchronous neuroendocrine tumours in these patients and most are pheochromocytomas. The case reports a 64-year-old woman referred to the General Surgery Outpatient for incidental finding of gastric and pancreatic tumours. She underwent a radical subtotal pancreatectomy + partial gastrectomy with jejunal transposition. The pathological examination revealed: gastric GISTs and a well-differentiated neuroendocrine carcinoma of the pancreas. This is the second case published so far of a patient with both tumours and without NF1. Posterior studies must be performed to evaluate if some other genetic disorder is involved in these patients without NF1. BACKGROUND

Increased risk of additional cancers among patients with gastrointestinal stromal tumors: A population‐based study

“…Our results showed that the increased occurrence of other cancers was specific to the anatomic site and the histological type, and it had a temporal relation with the GIST diagnosis. In particular, the data pointed to the possibility of many new, clinically relevant associations between GISTs and cancers distinct from known disorders such Carney's triad/tetrad (eg, gastric GISTs, pulmonary chondromas, extra-adrenal paragangliomas, and adrenal adenomas), [27][28][29] familial GIST syndromes (eg, activating germline mutations in KIT and PDGFRa with multifocal GISTs), 3,30-33 neurofibromatosis type 1 (eg, GISTs, sarcomas, periampullary/pancreatic neuroendocrine tumors, and pheochromocytomas), [34][35][36][37][38][39] and Carney-Stratakis syndrome (eg, GISTs and paragangliomas). [40][41][42] Because sarcomas and neuroendocrine tumors, which are found in neurofibromatosis, constituted only 4.0% and 3.1% of the 1208 additional cancers, respectively, this suggests that other etiologies might be responsible for the observed trends.…”

Gastrointestinal stromal tumors in the setting of multiple tumor syndromes

“…leiomyosarcoma and osteosarcoma) and pheochromocytomas are associated with NF-1 [46 && , [47][48][49][50][51]. café au lait spots, axillary/inguinal freckling, and dermal neurofibromas) and ocular (i.e.…”

A Synchronous Pancreatic Neuroendocrine Tumor and Duodenal Gastrointestinal Stromal Tumor

“…This is an extremely rare condition, with only four cases, including the present case, having been reported to date (15)(16)(17) (Table). Although PNETs and GISTs arise at a frequency of 0-10% and 11-25%, respectively, in patients with NF-1 (18,19), no such cases have been reported in the literature.…”