Neurofibromatosis-1 and Rhabdomyosarcoma: An Unusual Recurrence

Urology. 2020 Mar:137:168-172. doi: 10.1016/j.urology.2019.11.026. Epub 2019 Nov 30.

Abstract

Neurofibromatosis-1 has a known increased risk of malignancy with rhabdomyosarcoma occurring in up to 6% of patients. Here we report on an 8-year-old male with a history of Neurofibromatosis-1 and previously treated stage 3, group III bladder/prostate embryonal rhabdomyosarcoma (diagnosed at 18 months old) who presented with penile swelling concerning for priapism. Imaging and subsequent biopsy confirmed embryonal rhabdomyosarcoma of the penile corporal bodies. Penile rhabdomyosarcoma is exceedingly rare, with less than 15 case reports in the literature. Our patient received chemoradiation per D9803 with organ preserving local control and is doing well 3 months after treatment.

Publication types

  • Case Reports

MeSH terms

  • Biopsy / methods
  • Chemoradiotherapy / methods*
  • Child
  • Diagnosis, Differential
  • Humans
  • Magnetic Resonance Imaging / methods
  • Male
  • Neoplasm Recurrence, Local* / diagnosis
  • Neoplasm Recurrence, Local* / pathology
  • Neoplasm Staging
  • Neurofibromatosis 1* / pathology
  • Neurofibromatosis 1* / therapy
  • Penile Neoplasms* / diagnosis
  • Penile Neoplasms* / drug therapy
  • Penile Neoplasms* / pathology
  • Penile Neoplasms* / radiotherapy
  • Penis / diagnostic imaging
  • Penis / pathology
  • Positron Emission Tomography Computed Tomography / methods
  • Priapism / diagnosis*
  • Prostatic Neoplasms* / pathology
  • Prostatic Neoplasms* / therapy
  • Rhabdomyosarcoma, Embryonal* / pathology
  • Rhabdomyosarcoma, Embryonal* / therapy
  • Treatment Outcome
  • Urinary Bladder Neoplasms* / pathology
  • Urinary Bladder Neoplasms* / therapy