Pericytoma with t(7;12) and ACTB-GLI1 fusion arising in bone

Hum Pathol. 2012 Sep;43(9):1524-9. doi: 10.1016/j.humpath.2012.01.019. Epub 2012 May 9.

Abstract

Cytogenetic analysis of a primary bone neoplasm with pericytic features in a 67-year-old man revealed a t(7;12)(p22;q13) among other karyotypic abnormalities. Subsequent molecular studies confirmed the presence of an associated ACTB-GLI1 fusion transcript. An identical 7;12 translocation is known to characterize a discrete group of soft tissue tumors belonging to the myopericytic category termed pericytoma with t(7;12). To the best of our knowledge, this is the first case of pericytoma with t(7;12) arising in bone. Cytogenetic and molecular analyses were useful, if not essential, in classifying this rare diagnostic entity.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Bone Neoplasms / genetics*
  • Bone Neoplasms / pathology
  • Chromosomes, Human, Pair 12 / genetics
  • Chromosomes, Human, Pair 7 / genetics
  • Hemangiopericytoma / genetics*
  • Hemangiopericytoma / pathology
  • Humans
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Pericytes / pathology
  • Translocation, Genetic*

Substances

  • Oncogene Proteins, Fusion