Molecular genetic characterization of the 11q13 breakpoint in a desmoplastic fibroma of bone

Summary, in English

Desmoplastic fibroma (DFB) is a benign primary bone tumor that usually occurs in adolescents and young adults. The genetic information on DFB is very limited. We here present cytogenetic, fluorescence in situ hybridization and single nucleotide polymorphism array findings in a case that had a rearrangement involving chromosomes 11 and 19 at G-banding analysis. The results showed that the breakpoint in 11q was different from that in desmoplastic fibroblastomas, and a segment containing five genes was hemizygously deleted from 11q13.

• Författare: Domenico Trombetta; Gemma Macchia; Nils Mandahl; Karolin Hansén Nord; Fredrik Mertens
• Avdelning/ar: Avdelningen för klinisk genetik; BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
• Publiceringsår: 2012
• Språk: Engelska
• Sidor: 410-413
• Publikation/Tidskrift/Serie: Cancer Genetics
• Volym: 205
• Issue: 7-8
• Länkar: http://dx.doi.org/10.1016/j.cancergen.2012.05.002
• Dokumenttyp: Artikel i tidskrift
• Förlag: Elsevier
• Ämne: Cancer and Oncology
• Nyckelord: Desmoplastic fibroma; desmoplastic fibroblastoma; FISH; SNP array; 11q13
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 2210-7762