Two genetic pathways, t(1;10) and amplification of 3p11-12, in myxoinflammatory fibroblastic sarcoma, haemosiderotic fibrolipomatous tumour, and morphologically similar lesions.

Summary, in English

Myxoinflammatory fibroblastic sarcoma (MIFS) is a low-grade malignant neoplasm for which limited genetic information, including a t(1;10)(p22;q24) and amplification of chromosome 3 material, is available. To further characterize these aberrations, we have investigated eight soft tissue sarcomas diagnosed as MIFS, haemosiderotic fibrolipomatous tumour (HFT), myxoid spindle cell/pleomorphic sarcoma with MIFS features, and inflammatory malignant fibrous histiocytoma/undifferentiated pleomorphic sarcoma with prominent inflammation (IMFH) harbouring a t(1;10) or variants thereof and/or ring chromosomes with possible involvement of chromosome 3. Using chromosome banding, fluorescence in situ hybridization, array-based comparative genomic hybridization, global gene expression, and real-time quantitative PCR analyses, we identified the breakpoint regions on chromosomes 1 and 10, demonstrated and delineated the commonly amplified region on chromosome 3, and assessed the consequences of these alterations for gene expression. The breakpoints in the t(1;10) mapped to TGFBR3 in 1p22 and in or near MGEA5 in 10q24, resulting in transcriptional up-regulation of NPM3 and particularly FGF8, two consecutive genes located close to MGEA5. The ring chromosomes contained a commonly amplified 1.44 Mb region in 3p11-12, which was associated with increased expression of VGLL3 and CHMP2B. The identified genetic aberrations were not confined to MIFS; an identical t(1;10) was also found in a case of HFT and the amplicon in 3p was seen in an IMFH. Copyright (c) 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

• Författare: Karolin H Hallor; Raf Sciot; Johan Staaf; Markus Heidenblad; Anders Rydholm; Henrik Cf Bauer; Kristina Aström; Henryk Domanski; Jeanne M Meis; Lars-Gunnar Kindblom; Ioannis Panagopoulos; Nils Mandahl; Fredrik Mertens
• Avdelning/ar: Bröstcancer-genetik; Avdelningen för klinisk genetik; Ortopedi, Lund; Tumörmikromiljö
• Publiceringsår: 2009
• Språk: Engelska
• Sidor: 716-727
• Publikation/Tidskrift/Serie: Journal of Pathology
• Volym: 217
• Länkar: http://www.ncbi.nlm.nih.gov/pubmed/19199331?dopt=Abstract; http://dx.doi.org/10.1002/path.2513
• Dokumenttyp: Artikel i tidskrift
• Förlag: John Wiley & Sons Inc.
• Ämne: Cancer and Oncology
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 0022-3417