Domingo Stefanoni Galeazzi, Gianfranco Stefanoni Pérez
This case does not aim to establish a genetic association between NF1 and HB, but rather to highlight the diagnostic and therapeutic challenges posed by tumors outside the typical NF1 spectrum. It underscores the importance of considering overlapping tumor predisposition syndromes, as well as the need for comprehensive neuroaxis evaluation, long-term surveillance, and multidisciplinary management.
BACKGROUND: Hemangioblastomas (HBs) are benign, highly vascular tumors that predominantly arise in the posterior fossa and are typically associated with von Hippel-Lindau disease. Their occurrence in individuals with neurofibromatosis type 1 (NF1) is exceptional and represents a diagnostic challenge.
CASE DESCRIPTION: We report the case of a 27-year-old patient with NF1 who developed a cerebellar HB. Magnetic resonance imaging revealed a cystic lesion involving the right cerebellar hemisphere and vermis with an enhancing mural nodule. Preoperative imaging findings were suggestive of HB. Tumor resection was performed through a midline suboccipital approach, achieving complete removal of the mural nodule, with histopathological confirmation of the diagnosis. Follow-up imaging demonstrated persistence of the cystic component without a residual enhancing nodular lesion. Given these findings and clinical considerations, adjuvant radiotherapy was administered in 23 sessions, resulting in significant clinical improvement.
CONCLUSION: This case does not aim to establish a genetic association between NF1 and HB, but rather to highlight the diagnostic and therapeutic challenges posed by tumors outside the typical NF1 spectrum. It underscores the importance of considering overlapping tumor predisposition syndromes, as well as the need for comprehensive neuroaxis evaluation, long-term surveillance, and multidisciplinary management.