Paratesticular myxoid/round cell liposarcoma harboring type 3 DDIT3-FUS fusion gene: report of a very rare case

Pathol Res Pract. 2013 Feb 15;209(2):124-7. doi: 10.1016/j.prp.2012.10.015. Epub 2012 Dec 28.

Abstract

Myxoid/round cell liposarcomas are rare mesenchymal neoplasms. They preferentially occur in the lower extremity, and most of them have type 1 or type 2 DDIT3-FUS fusion gene. We report here a very rare case of myxoid/round cell liposarcoma of the paratesticular region with type 3 DDIT3-FUS fusion gene. A 46-year-old Japanese man noticed a gradually enlarged intrascrotal mass without pain. Surgical resection of 3.4 cm × 2.1 cm oval mass was carried out, and it was located in the right paratesticular region apart from the spermatic cord and epididymis. Histological examination of the tumor revealed ovoid cell proliferation with anastomosing vascular network and scattered lipoblasts. Genetic analysis elucidated that the tumor had a chromosomal translocation, type 3 DDIT3-FUS chimeric gene. The tumor was definitely diagnosed as myxoid/round cell liposarcoma of the paratesticular region.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Genital Neoplasms, Male / genetics*
  • Genital Neoplasms, Male / pathology
  • Humans
  • Liposarcoma, Myxoid / genetics*
  • Liposarcoma, Myxoid / pathology
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Oncogene Proteins, Fusion / genetics*
  • RNA-Binding Protein FUS / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Scrotum / pathology
  • Transcription Factor CHOP / genetics*

Substances

  • DDIT3 protein, human
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein FUS
  • Transcription Factor CHOP