1552 A Tale of Two Ganglioneuromas

Abstract

INTRODUCTION: Ganglioneuromas are rare benign tumors of nerve fibers, ganglion cells, and supportive cells that rarely occur in the GI tract. GI ganglioneuromas come in three forms including solitary polypoid ganglioneuroma, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. These classifications are vital to recognize as some are associated with genetic syndromes which require close cancer surveillance. Here we present two cases of ganglioneuromas: one as a solitary ganglioneuroma and the other as part of a hereditary syndrome. CASE DESCRIPTION/METHODS: Patient 1 was a 61 yo man with hypertension. Screening colonoscopy revealed a 1.3 cm pedunculated polyp in the ascending colon. Path revealed spindle cell proliferation expressing S-100, consistent with ganglioneuroma. EGD was normal. After confirmation of complete removal, he will proceed with standard screening intervals. Patient 2 was a 52 yo man with OSA and skin lipomas. Screening colonoscopy revealed polyps too numerous to count dispersed throughout. Biopsies showed a mix of ganglioneuromas, tubular adenomas, and hyperplastic polyps consistent with ganglioneuromatous polyposis. Genetic testing identified a PTEN mutation confirming Cowden Syndrome. He was then scheduled for an EGD, repeat colonoscopy in 6 months, and cancer screening per ACG Hereditary Cancer Guidelines. DISCUSSION: While both patients had ganglioneuromas, the management was significantly different. Patient 1 had a solitary ganglioneuroma, which is often found incidentally. Due to their benign nature, solitary ganglioneuromas do not necessitate more frequent screening. Ganglioneuromatous polyposis, as seen in patient 2, is associated with Cowden syndrome and diagnosed by a PTEN mutation. Patients have multiple types of polyps, including ganglioneuromas. They must get regular cancer screening of the colon, breast, thyroid, skin and kidney. Current recommendations are to repeat colonoscopies usually every 2 years depending on findings. Diffuse ganglioneuromatosis often appears as thickening of the bowel with involvement of the myenteric plexus. This is associated with MENIIB and more rarely Neurofibromatosis type 1. This may be handled conservatively but if obstruction results then resection of the involved bowel may need to be considered. Recognition of these presentations takes careful consideration including detailed history and physical exam to ensure correct diagnosis, which may tailor future cancer surveillance programs for patients diagnosed with polyposis syndromes.