Abstract Details

Title Neurofibromatosis Type 1 and Metastatic Testicular Germ Cell Tumor

Topic Neuro-oncology

Presentation(s) P1 - Poster Session 1 (9:00 AM-5:00 PM)

Poster/Presentation
Number 423

Objective Describe the clinical course of a young adult with sporadic neurofibromatosis type 1 who developed mixed germ cell tumor and literature review.

Background 20-year-old male with NF1, presented for a routine follow-up. NF1 manifestations included Lisch nodules, left optic nerve glioma, subcutaneous neurofibromas, large plexiform neurofibroma from left mid-thigh to ankle and multilevel paraspinal small thoracic and lumbar plexiform neurofibromas. There was no family history of NF1. His main complaint was intermittent aching of the left groin. Neurological examination was remarkable for difficulty walking on toes due to left lower extremity deformity. MRI Brain showed Focal Area of Signal Intensity (FASI). He underwent an annual surveillance whole body MRI.

Design/Methods Chart Review

Results MRI of the lower extremities incidentally showed a large left scrotal mass displacing the testicles. The signal characteristics were different from that of extremity neurofibromas. Serology showed elevated LDH at 197 (range 90 – 189 U/L) and AFP at 1,384 (range <9 ng/ml), but normal hCG of 1 (<5). Systemic staging with PET whole body, CT C/A/P, and whole-body bone scan showed large para-aortic lymph nodes, bilateral pulmonary nodules, osseous metastatic lesions involving the cervical and thoracic spine, respectively. Radical orchiectomy was performed and pathology showed mixed germ cell tumor composed of 60% mature teratoma, 10% immature teratoma, and 30% yolk sac tumor. He was diagnosed with stage IV mixed, non-seminomatous germ cell tumor and was treated with standard regimen of bleomycin/etoposide/cisplatin q 21 days for 4 cycles with follow-up imaging showing persistent lung nodules.

Conclusions Neurofibromatosis is a tumor predisposition syndrome. Only one case report has described an association between NF1 and testicular germ cell tumor. It may suggest a possible genetic association. As this tumor can quickly metastasize, evaluation of testicular masses in young male NF1 patients is important for differentiation of testicular neurofibromas from non-seminomatous germ cell tumors.

Authors/Disclosures
Sushant Puri, MBBS (Oregon Health & Science University (OHSU)) PRESENTER	Dr. Puri has nothing to disclose.
David Heron, MD (Barnes Jewish Hospital)	Dr. Heron has nothing to disclose.
Nikolas A. Mata-Machado, MD	Dr. Mata-Machado has nothing to disclose.
	No disclosure on file
Stefania Maraka, MD	Dr. Maraka has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Springworks Therapeutics. Dr. Maraka has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Alexion. Dr. Maraka has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Springworks Therapeutics. Dr. Maraka has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for SpringWorks Therapeutics . The institution of an immediate family member of Dr. Maraka has received research support from Baxter.

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