A Rare Case: Composite Paraganglioma-Ganglioneuroma in a Neurofibromatosis 1 Patient and Literature Review.

Abstract

Background: Pheochromocytomas and paragangliomas (PPGLs) are rare catecholamine-secreting neuroendocrine tumors originating from the embryonic neural crest. Approximately 30% of PPGLs are hereditary and are frequently associated with genetic syndromes, including neurofibromatosis type 1 (NF1). Composite PPGLs, which include components of both PPGLs and related tumors such as ganglioneuromas, are extremely rare in NF1 patients.

Case presentation: A 40-year-old woman with NF1, identified by multiple neurofibromas, café-au-lait spots, axillary freckling, and Lisch nodules, presented with an incidental mass adjacent to the right adrenal gland. Computed tomography and magnetic resonance imaging revealed a possible PPGL, with additional small nodules suspected to be gastrointestinal stromal tumors or neuroendocrine tumors. Genetic testing revealed a heterozygous NF1 gene mutation, c.2786T>C. The patient underwent successful robotic-assisted laparotomy to remove a 5 cm retroperitoneal tumor. Pathological examination revealed a composite paraganglioma-ganglioneuroma. The patient recovered well postoperatively and was recommended for long-term follow-up.

Conclusion: This report describes the first Chinese case of composite extra-adrenal paraganglioma-ganglioneuroma in an NF1 patient, highlighting the importance of a multidisciplinary approach, including genetic analysis, for the accurate diagnosis and management of composite PGLs in NF1 patients. This unique case underscores the clinical significance of recognizing rare composite tumors in diverse populations to improve diagnosis and personalized treatment strategies. Further research into the genetic and clinical implications of these tumors is important.