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

Domenico Trombetta; Gemma Macchia; Nils Mandahl; Karolin H Nord; Fredrik Mertens

doi:10.1016/j.cancergen.2012.05.002

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

Cancer Genet. 2012 Jul-Aug;205(7-8):410-3. doi: 10.1016/j.cancergen.2012.05.002.

Authors

Domenico Trombetta¹, Gemma Macchia, Nils Mandahl, Karolin H Nord, Fredrik Mertens

Affiliation

¹ Laboratory of Oncology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo (FG), Italy. [email protected]

PMID: 22868002
DOI: 10.1016/j.cancergen.2012.05.002

Abstract

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Bone Neoplasms / genetics*
Chromosome Banding
Chromosome Fragile Sites*
Chromosomes, Human, Pair 11*
Female
Fibroma, Desmoplastic / genetics*
Humans
In Situ Hybridization, Fluorescence
Polymorphism, Single Nucleotide