Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features.
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.
Mariño-Enríquez
Adrián
A
Departamento de Anatomía Patológica, Hospital Universitario La Paz, 28046 Madrid, Spain.
Li
Peining
P
Samuelson
Joan
J
Rossi
Michael R
MR
Reyes-Múgica
Miguel
M
D014408:Biomarkers, Tumor / Q000032:analysis; D002881:Chromosomes, Human, Pair 12; D002884:Chromosomes, Human, Pair 15; D002888:Chromosomes, Human, Pair 19; D003131:Combined Modality Therapy; D005354:Fibrosarcoma / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D015321:Gene Rearrangement; D006801:Humans; D007223:Infant; D008297:Male; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics; D020812:Receptor, trkC / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D012186:Retroperitoneal Neoplasms / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D014057:Tomography, X-Ray Computed; D014178:Translocation, Genetic; D016896:Treatment Outcome; D000097764:ETS Translocation Variant 6 Protein
D014408:Biomarkers, Tumor; D050783:Proto-Oncogene Proteins c-ets; D020812:Receptor, trkC; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein