C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma

Dali Huang, Janos Sumegi, Paola Dal Cin, John D. Reith, Taketoshi Yasuda, Marilu Nelson, David Muirhead, Julia A. Bridge

Research output: Contribution to journalArticle

41 Citations (Scopus)

Abstract

Chondroid lipoma, a rare benign adipose tissue tumor, may histologically resemble myxoid liposarcoma or extraskeletal myxoid chondrosarcoma, but is genetically distinct. In this study, an identical reciprocal translocation, t(11;16)(q13;p13), was identified in three chondroid lipomas, a finding consistent with previously isolated reports. A fluorescence in situ hybridization (FISH)-based positional cloning strategy using a series of bacterial artificial chromosome (BAC) probe combinations designed to narrow the 16p13 breakpoint revealed MKL2 as the candidate gene. Subsequent 5′ RACE studies demonstrated C11orf95 as the MKL2 fusion gene partner. MKL/myocardin-like 2 (MKL2) encodes myocardin-related transcription factor B in a megakaryoblastic leukemia gene family, and C11orf95 (chromosome 11 open reading frame 95) is a hypothetical protein. Sequencing analysis of reverse transcription-polymerse chain reaction (RT-PCR) generated transcripts from all three chondroid lipomas defined the fusion as occurring between exons 5 and 9 of C11orf95 and MKL2, respectively. Dual-color breakpoint spanning probe sets custom-designed for recognition of the translocation event in interphase cells confirmed the anticipated rearrangements of the C11orf95 and MKL2 loci in all cases. The FISH and RTPCR assays developed in this study can serve as diagnostic adjuncts for the identification of this novel C11orf95-MKL2 fusion oncogene in chondroid lipoma.

Original languageEnglish (US)
Pages (from-to)810-818
Number of pages9
JournalGenes Chromosomes and Cancer
Volume49
Issue number9
DOIs
StatePublished - Sep 1 2010

Fingerprint

Oncogene Fusion
Chromosomes, Human, Pair 11
Lipoma
Open Reading Frames
Fluorescence In Situ Hybridization
Myxoid Liposarcoma
Bacterial Artificial Chromosomes
Gene Fusion
Interphase
myocardin
Genes
Reverse Transcription
Adipose Tissue
Organism Cloning
Exons
Leukemia
Transcription Factors
Color

ASJC Scopus subject areas

  • Genetics
  • Cancer Research

Cite this

Huang, D., Sumegi, J., Cin, P. D., Reith, J. D., Yasuda, T., Nelson, M., ... Bridge, J. A. (2010). C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. Genes Chromosomes and Cancer, 49(9), 810-818. https://doi.org/10.1002/gcc.20788

C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. / Huang, Dali; Sumegi, Janos; Cin, Paola Dal; Reith, John D.; Yasuda, Taketoshi; Nelson, Marilu; Muirhead, David; Bridge, Julia A.

In: Genes Chromosomes and Cancer, Vol. 49, No. 9, 01.09.2010, p. 810-818.

Research output: Contribution to journalArticle

Huang, D, Sumegi, J, Cin, PD, Reith, JD, Yasuda, T, Nelson, M, Muirhead, D & Bridge, JA 2010, 'C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma', Genes Chromosomes and Cancer, vol. 49, no. 9, pp. 810-818. https://doi.org/10.1002/gcc.20788
Huang, Dali ; Sumegi, Janos ; Cin, Paola Dal ; Reith, John D. ; Yasuda, Taketoshi ; Nelson, Marilu ; Muirhead, David ; Bridge, Julia A. / C11orf95-MKL2 is the resulting fusion oncogene of t(11;16)(q13;p13) in chondroid lipoma. In: Genes Chromosomes and Cancer. 2010 ; Vol. 49, No. 9. pp. 810-818.
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