Translocation t(7;19)(q22;q13)-a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?

Summary, in English

Pseudomyogenic hemangioendothelioma is a recently described morphologic entity among soft tissue tumors. It is more common in young individuals, shows a male predominance, is often multifocal and involves different tissue planes, and shows a high propensity for local recurrence. To our knowledge, no genetic characteristics of this tumor type have been presented before. Here, we describe the finding of a balanced t(7;19)(q22;q13) as the sole anomaly in three lesions from a 14-year-old girl. By means of fluorescence in situ hybridization, the breakpoints could be delineated, but reverse transcriptase-polymerase chain reaction for putative fusion genes did not reveal any fusion transcript. Interphase fluorescence in situ hybridization on sections from nine other pseudomyogenic hemangioendotheliomas indicated the presence of an unbalanced der(7)t(7;19) in one of them. Thus, the translocation between chromosomes 7 and 19 seems to be a recurrent phenomenon and is likely to be of pathogenetic significance in at least a subset of pseudomyogenic hemangioendotheliomas.

• Författare: Domenico Trombetta; Linda Magnusson; Fredrik Vult von Steyern; Jason L Hornick; Christopher D M Fletcher; Fredrik Mertens
• Avdelning/ar: Avdelningen för klinisk genetik; Ortopedi, Lund; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
• Publiceringsår: 2011
• Språk: Engelska
• Sidor: 211-215
• Publikation/Tidskrift/Serie: Cancer Genetics
• Volym: 204
• Issue: 4
• Länkar: http://www.ncbi.nlm.nih.gov/pubmed/21536240?dopt=Abstract; http://dx.doi.org/10.1016/j.cancergen.2011.01.002
• Dokumenttyp: Artikel i tidskrift
• Förlag: Elsevier
• Ämne: Cancer and Oncology
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 2210-7762