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

• Autor(a) principal: Silva, Pamela Viana e
• Data de Publicação: 2023
• Outros Autores: Costa, Thiago Menezes, Rodrigues, Renanna Najara Veras, Lima, Carlos Anselmo
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista Brasileira de Cancerologia (Online)
• Texto Completo: https://rbc.inca.gov.br/index.php/revista/article/view/3720
• topic: tumores do estroma gastrointestinal; neurofibromatose 1; neoplasias gastrointestinais; gastrointestinal stromal tumors; neurofibromatosis 1; gastrointestinal neoplasms; tumores del estroma gastrointestinal; neurofibromatosis 1; neoplasias gastrointestinales

Introduction: Gastrointestinal stromal tumors (GIST), although relatively rare, account for 80% of mesenchymal tumors of the digestive tract. They manifest in any part of the alimentary tract and are derived from Cajal cells. They may occur sporadically or be associated with familial syndromes such as neurofibromatosis type I. The clinical picture is variable, and they are often diagnosed incidentally. The diagnosis requires imaging tests associated with histopathological and immunohistochemical analysis. The best strategy for treatment is surgical resection and cases should be analyzed individually to verify additional advantages with the association of systemic therapy. This study aims to present an unusual case of GIST associated with neurofibromatosis type I in a patient with incidental diagnosis after semi-intestinal occlusion secondary to an episode of pancreatitis, in addition to performing a literature review on the subject. Case report: A 49-year-old woman with a history of severe pancreatitis presented with intestinal obstruction approximately 8 months after this episode. Abdominal computed tomography revealed a heterogeneous formation in the mesogastric region, measuring 6.6 x 5.1 x 5.3 cm. She underwent surgical resection and histopathological and immunohistochemical studies confirmed the diagnosis of GIST. Six months after diagnosis, the patient is in good general condition and is on systemic therapy. Conclusion: GIST are rare tumors, but their diagnosis should come to mind in patients with neurofibromatosis type 1 with abdominal masses.