Cutaneous aneurysmal fibrous histiocytoma with a t(12;19)(p12;q13) as the sole cytogenetic anomaly

Cancer Genet Cytogenet. 2006 Jan 15;164(2):155-8. doi: 10.1016/j.cancergencyto.2005.08.020.

Abstract

We report a case of a 39-year-old woman with a recurrent aneurysmal fibrous histiocytoma of the right lower leg. Cytogenetic analysis of the tumor specimen disclosed a 46,XX,t(12;19)(p12;q13) karyotype. Multicolor fluorescence in situ hybridization (M-FISH), followed by conventional FISH analysis, confirmed the reciprocal translocation as the sole cytogenetic anomaly, and allowed for the positioning of chromosomes 12 and 19 breakpoints proximal to the BCL3 gene and between ETV6 and PIK3C2G gene loci, respectively. Our case highlights the importance of distinguishing this recurrent but benign lesion from similarly appearing malignant skin tumors. Cytogenetic analysis may contribute to the diagnosis of this uncommon but distinctive clinicopathological entity.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • B-Cell Lymphoma 3 Protein
  • Chromosomes, Human, Pair 19*
  • Chromosomes, Human, Pair 22*
  • Cytogenetic Analysis
  • ETS Translocation Variant 6 Protein
  • Female
  • Histiocytoma, Benign Fibrous / genetics*
  • Histiocytoma, Benign Fibrous / pathology
  • Histiocytoma, Benign Fibrous / surgery
  • Humans
  • Leg
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins c-ets / genetics
  • Repressor Proteins / genetics
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology
  • Skin Neoplasms / surgery
  • Transcription Factors
  • Translocation, Genetic*

Substances

  • B-Cell Lymphoma 3 Protein
  • BCL3 protein, human
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Transcription Factors