Jejunal stromal tumor and neurofibromatosis

Abstract

Gastrointestinal stromal tumors, although rare, are the most common primary mesenchymal neoplasms of the gastrointestinal tract and originate from the interstitial cells of Cajal. They present slow growth and symptoms such as bleeding, abdominal pain or discomfort, and the presence of an abdominal mass. The most affected organs are the stomach and small intestine. Differential diagnoses for gastrointestinal stromal tumor include adenocarcinoma and small intestine lymphoma, metastasis, and carcinoid tumor. Gastrointestinal stromal tumors have been associated with familial syndromes such as type 1 neurofibromatosis, considered a predisposing factor for tumors in the small intestine. This study aimed to report a case of gastrointestinal stromal tumor in the jejunal region in a patient with type 1 neurofibromatosis, followed-up for two years, who underwent laparoscopic segmental enterectomy and diagnosis determined by histopathology and immunohistochemistry. The diagnosis of small intestine gastrointestinal stromal tumor is challenging because of its low incidence, nonspecific symptoms, relative inaccessibility of the small intestine to conventional endoscopic examination, broad spectrum of radiological appearances, and the fact that the nature of the mass is difficult to determine with imaging examinations of the abdomen alone. Thus, the small intestine gastrointestinal stromal tumor may be erroneously diagnosed as pancreatic, gynecological, or mesenteric tumors. The literature does not present many reports on the association of jejunal gastrointestinal stromal tumor with neurofibromatosis. Understanding the tumoral behavior of small intestine gastrointestinal stromal tumor in this subgroup of patients would allow better follow-up.

Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis Type I: Diagnosis after Intestinal Occlusion Secondary to Adhesions after an Episode of Pancreatitis

“…Silva PV, CostaTM, Rodrigues RNV, Lima CA Preoperative biopsy is not mandatory in suspected GIST, but it avoids the need for lymphadenectomy, which would be crucial for neuroendocrine tumors or intestinal adenocarcinoma 8 . In addition, it is useful when the submucosal lesion is indeterminate or there is evidence of metastatic disease, and palliative treatment is considered 4,6 .…”

“…Gastrointestinal stromal tumors (GIST) correspond to 1% of gastrointestinal neoplasms 1,2 . Although rare, they represent 80% of mesenchymal tumors of the digestive tract [3][4][5][6][7] and 5% of all sarcomas. They can occur in any part of the alimentary tract, originating from the cells of Cajal, in the gastrointestinal myenteric plexus [2][3][4]6,8 .…”

“…Although rare, they represent 80% of mesenchymal tumors of the digestive tract [3][4][5][6][7] and 5% of all sarcomas. They can occur in any part of the alimentary tract, originating from the cells of Cajal, in the gastrointestinal myenteric plexus [2][3][4]6,8 . They are more common in the stomach (50-70%) and small intestine (20-30%), less frequently affecting the colon and rectum (2-5%) or other abdominal cavity organs such as pancreas, gallbladder, mesentery, omentum and peritoneum 3,4,7 .…”

“…Patients are younger (mean age 49 years), lesions are multiple, occur primarily in the small intestine, are smaller in size, have low mitotic activity, and rarely exhibit mutations in the CD 117 (KIT) and Platelet-Derived Growth Factor Receptor Alpha (PDGFRA) genes. These patients lack specific mutations for GIST, therefore, they show a variable and usually incomplete response to treatment with reverse transcriptase inhibitors 6,11 .…”