Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features

Hum Pathol. 2008 Dec;39(12):1844-8. doi: 10.1016/j.humpath.2008.04.013. Epub 2008 Jul 25.

Abstract

Congenital mesenchymal tumors are diagnostically challenging as they are rare and may feature overlapping patterns between several benign, low-grade, and tumors of intermediate malignancy, including myofibromatosis, myofibroma/hemangiopericytoma, congenital fibrosarcoma, and inflammatory myofibroblastic tumor. Their immunophenotype is either silent or minimally expressive, and their ultrastructural features are generically consistent with "fibroblastic/myofibroblastic" differentiation. Cytogenetic analysis allows refined diagnoses, improved classifications, and bettering of our therapeutic armamentarium. However, genotype/phenotype correlations continue rendering novel findings that must be examined for their potential value in diagnosis and treatment. We describe a retroperitoneal congenital fibrosarcoma with an unusually bland histopathology and novel 3-way t(12;15;19) translocation involving chromosome bands 12p13.2, 15q25.3, and 19p13.1, associated with trisomies 8, 11, and 20. Fluorescence in situ hybridization showed one fusion signal in the normal chromosome 12p13.2 and break-apart 3'ETV6 and 5'ETV6 signals in the rearranged 12p13.2 and 15q25.3, respectively. The importance of molecular diagnosis and genotype-phenotype correlations is emphasized.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor / analysis
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 15*
  • Chromosomes, Human, Pair 19*
  • Combined Modality Therapy
  • ETS Translocation Variant 6 Protein
  • Fibrosarcoma / congenital
  • Fibrosarcoma / genetics*
  • Fibrosarcoma / pathology
  • Gene Rearrangement
  • Humans
  • Infant
  • Male
  • Proto-Oncogene Proteins c-ets / genetics
  • Receptor, trkC / genetics
  • Repressor Proteins / genetics
  • Retroperitoneal Neoplasms / congenital
  • Retroperitoneal Neoplasms / genetics*
  • Retroperitoneal Neoplasms / pathology
  • Tomography, X-Ray Computed
  • Translocation, Genetic*
  • Treatment Outcome

Substances

  • Biomarkers, Tumor
  • Proto-Oncogene Proteins c-ets
  • Repressor Proteins
  • Receptor, trkC