Coexistence of gastrointestinal stromal tumors (GISTs), pheochromocytoma and paragangliomas in a patient with neurofibromatosis type 1: a case report

• Autor(a) principal: Dantas, Raiana Carol de Medeiros
• Data de Publicação: 2022
• Outros Autores: Fernandes, Lucca Ferdinando Queiroz, Carvalho, Iago Tavares de, Santos, Igor Henrique, Freitas, Lucas Ribeiro de Moraes, Lucena, Renner Cassio Nunes de, Barbalho, Vitor Luiz de Andrade
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Research, Society and Development
• Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/26166
• topic: Neurofibromatosis 1; Pheochromocytoma; Paraganglioma; Gastrointestinal stromal tumors.; Neurofibromatosis 1; Feocromocitoma; paraganglioma; Tumores del estroma gastrointestinal.; Neurofibromatose 1; Paraganglioma; Feocromocitoma; Tumores do estroma gastrointestinal.

Neurofibromatosis type 1 (NF1) is a genetic disease. When compared to the other two forms, neurofibromatosis type 2 (NF2) and schwannomatosis, NF1 is the most common presentation. The clinical manifestations usually present as macules, axillary and/or inguinal freckles, Lisch nodules (iris hamartomas) and neurofibromas. The present study is a case report, which aims to report the repercussions and rare findings in an elderly woman diagnosed with NF1. The patient's clinic started about 45 years ago when she sought a health service due to recurrent bouts of diarrhea and hernia in the inguinal region. A USG of the total abdomen was requested, which showed a mass in the retropancreatic region characteristic of a paraganglioma. After 4 years, the patient had difficult-to-control primary hypertension with paroxysmal peaks, and a pheochromocytoma was subsequently diagnosed by imaging and laboratory tests. During routine follow-up, magnetic resonance imaging (MRI) of the abdomen and pelvis identified a solid nodule maintaining a close relationship with small intestinal loops, which in immunohistochemistry was a Gastrointestinal Stromal Tumor (GIST). The patient continues with oncological follow-up in her city and has no complaints. She has lately been experiencing intermittent memory lapses and a few episodes of falling. Thus, after a review of the literature, it was found that the topic in question is rarely discussed, with few records of the simultaneous existence of the three mentioned tumors, which reinforces, therefore, the importance of this study.