A novel t(6;13)(q15;q34) translocation in a giant cell reparative granuloma (solid aneurysmal bone cyst)

Hum Pathol. 2012 Jun;43(6):952-7. doi: 10.1016/j.humpath.2011.10.003. Epub 2012 Jan 26.

Abstract

Aneurysmal bone cyst is a rapidly growing and locally aggressive lesion that commonly affects children and young adults. Initially regarded as a reactive process, primary aneurysmal bone cyst is now widely accepted as a neoplasm owing to recent findings of recurrent clonal chromosomal alterations, mostly t(16;17)(q22;p13). However, other infrequent chromosomal rearrangements have also been reported. Giant cell reparative granuloma, previously regarded as a nonneoplastic process and histologically indistinguishable from the solid variant of aneurysmal bone cyst, is frequently seen in the gnathic bones and the short tubular bones of the hands and feet. Here we present such a case of giant cell reparative granuloma (solid aneurysmal bone cyst) in the finger of a 63-year-old white man. Cytogenetic analysis revealed a novel alteration involving a reciprocal translocation between 6q and 13q, with a karyotype of 46,XY,t(6;13)(q15;q34),del(20)(q13.1).

Publication types

  • Case Reports

MeSH terms

  • Abnormal Karyotype
  • Bone Cysts, Aneurysmal / genetics*
  • Bone Cysts, Aneurysmal / pathology
  • Bone Diseases / genetics*
  • Bone Diseases / pathology
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 6 / genetics*
  • Fingers / pathology
  • Granuloma, Giant Cell / genetics*
  • Granuloma, Giant Cell / pathology
  • Humans
  • Male
  • Middle Aged
  • Translocation, Genetic