Tumoral Predisposition in type 1 Neurofibromatosis: A Case Report

Author(s): Maria Luísa Sequeir, Inês Salgado, Cláudia Pereira Rosa, Pedro Gomes, Carlos Zagalo

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition that predisposes to a variety of primary neoplasias, having a wide presentation spectrum. Studies have suggested that the risk of developing benign and malignant tumors in NF1 patients could be approximately 2 to 5-fold higher than what is expected in the general population. We present the case of a 52-year-old caucasian man with NF1, recently diagnosed with a retroperitoneal Gastrointestinal Stromal Tumor (GIST). The patient had already been diagnosed with a Pheochromocytoma (PHEO) and a Papillary Thyroid Carcinoma (PTC) in the past. Here we discuss the rare concomitance of these three neoplasms in a NF1 patient, as well as the clinical presentation and proposed oncological pathways linking NF1 to each of the neoplasms presented by the patient. To the best of our knowledge a similar set of tumors in a NF1 patient has never been described in literature.

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