Cutaneous aneurysmal fibrous histiocytoma with a t(12;19)(p12;q13) as the sole cytogenetic anomaly.
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.
Botrus
Gehan
G
Department of Clinical Oncology, Katholieke Universiteit Leuven, O & N Gasthuisberg, Leuven, Belgium.
Sciot
Raf
R
Debiec-Rychter
Maria
M
D000328:Adult; D000081242:B-Cell Lymphoma 3 Protein; D002888:Chromosomes, Human, Pair 19; D002892:Chromosomes, Human, Pair 22; D020732:Cytogenetic Analysis; D005260:Female; D018219:Histiocytoma, Benign Fibrous / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D006801:Humans; D007866:Leg; D011518:Proto-Oncogene Proteins / Q000235:genetics; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D014157:Transcription Factors; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
D000081242:B-Cell Lymphoma 3 Protein; D011518:Proto-Oncogene Proteins; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D014157:Transcription Factors; D000097764:ETS Translocation Variant 6 Protein; C000631344:BCL3 protein, human