NEUROFIBROMATOSE TIPO I COMO FATOR PREDISPONENTE PARA O CARCINOMA DUCTAL IN SITU
UM RELATO DE CASO
DOI:
https://doi.org/10.36557/2674-8169.2025v7n7p311-321Keywords:
Neurofibromatose tipo 1, Carcinoma ductal in situ, Ginecologia, Miomatose uterina, Neoplasias mamáriasAbstract
Introduction: Neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by multiple cutaneous lesions composed of ganglionic nerve tissue. This condition results from mutations in the NF1 gene, leading to abnormal production of neurofibromin, a key regulator of the RAS proto-oncogene. As a consequence, affected individuals have a markedly increased risk of developing various neoplastic lesions. Treatment remains uncertain and must be tailored to the patient’s symptoms and associated comorbidities. Objective: To report a case of a patient with NF1 who developed ductal carcinoma in situ (DCIS), emphasizing the relevance of multidisciplinary gynecological follow-up. Methods: Clinical case report based on the longitudinal outpatient follow-up of a patient with NF1, with documented progression from 2013 to 2024. Conclusion: NF1 significantly increases the risk of neoplasia, requiring vigilant gynecological surveillance. Recognition of the disease's specific features allows for a more effective, integrated, and preventive approach.
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Copyright (c) 2025 Gabrielli martins, Paola Dias Tagliacozzo, Renan Faga, Rozana Simoneti, Danilo Tannus de Queiroz
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