@article {Tomaz:2009:0102-6720:65,
title = "GISTs m{\’u}ltiplos em neurofibromatose tipo 1: diagn{\’o}stico incidental em paciente com abdome agudo Multiple GISTs in neurofibromatosis type 1: incidental diagnosis in a patient with acute abdomen",
journal = "ABCD: Arquivos Brasileiros de Cirurgia Digestiva",
parent_itemid = "infobike://doaj/01026720",
publishercode ="doaj",
year = "2009",
volume = "22",
number = "1",
publication date ="2009-01-01T00:00:00",
pages = "65-68",
itemtype = "ARTICLE",
issn = "0102-6720",
url = "https://www.ingentaconnect.com/content/doaj/01026720/2009/00000022/00000001/art00015",
doi = "doi:10.1590/S0102-67202009000100015",
author = "Tomaz de Jesus Maria Grezzana-Filho and Ta{\’ı}s Burmann de Mendon{\c{c}}a and Liane Golbspan and Cleber Rosito Pinto Kruel and Aljamir Duarte Chedid and Cleber Dario Pinto Kruel",
abstract = "INTRODUO: Tem sido descrito na literatura incidncia aumentada de tumores estromais gastrointestinais (GISTs) em portadores de neurofibromatose tipo 1. Estes tumores tipicamente ocorrem no intestino delgado e, frequentemente, so mltiplos. RELATO DO CASO: Diagnstico incidental de GIST em um paciente portador de neurofibromatose tipo 1 com abdome agudo. No trans-operatrio foi identificada apendicite retrocecal perfurada e massa neoplsica no jejuno proximal. A referida leso ocupava aproximadamente 70% da circunferncia do rgo e no apresentava invaso de estruturas adjacentes. Alm disso, observaram-se dezenas de pequenos ndulos disseminados por toda a extenso do jejuno e leo. O anatomopatolgico revelou neoplasia compatvel com GIST, com grau moderado de atipias, baixo ndice mittico (BACKGROUND: The literature described an increased incidence of gastrointestinal stromal tumors (GISTs) in patients with neurofibromatosis type 1. These tumors typically occur in the small intestine, and frequently are multiple. Often the behavior of the tumor in this association is more favorable than in sporadic cases. CASE REPORT: Incidental diagnosis of GIST was done in a patient with neurofibromatosis type 1 during treatment for acute abdomen. Trans-operatively was identified a retrocecal perforated appendicitis and a neoplastic mass in the proximal jejunum. The lesion occupied approximately 70% of the circumference of the organ and had no invasion of adjacent structures. Moreover, there were dozens of small nodules scattered throughout the length of the jejunum and ileum. The pathology revealed malignancy consistent with GIST, with moderate degree of atypia, low mitotic index (<5 / 50) and absence of necrosis. In immunohistochemical analysis, the neoplastic cells were positive for CD-34 and CD-117 (c-KIT), and negative for desmin. After surgery, the use of Imatinib chemotherapy was indicated. After a follow-up period of 12 months, the patient showed no signs of recurrence. CONCLUSION: GISTs should be considered in the presence of abdominal mass and neurofibromatosis type 1, affecting mainly small bowel. Sometimes Imatinib can be administered with good results in the control of the disease.",
}