HOXA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS

Bruce Poppe; Nurten Yigit; Barbara De Moerloose; Anne De Paepe; Yves Benoit; Frank Speleman

doi:10.1016/j.cancergencyto.2005.03.004

HOXA gene cluster rearrangement in a t(7;9)(p15;q34) in a child with MDS

Cancer Genet Cytogenet. 2005 Oct 1;162(1):82-4. doi: 10.1016/j.cancergencyto.2005.03.004.

Authors

Bruce Poppe¹, Nurten Yigit, Barbara De Moerloose, Anne De Paepe, Yves Benoit, Frank Speleman

Affiliation

¹ Center for Medical Genetics, University Hospital Ghent 1K5, De Pintelaan 185, Getnt B-9000, Belgium.

PMID: 16157206
DOI: 10.1016/j.cancergencyto.2005.03.004

Abstract

We describe the molecular characterization of a t(7;9)(p15;q34) found in a 15-month-old female patient, diagnosed with refractory anemia with excess blasts in transformation (RAEBt), in progression to acute myeloid leukemia (AML) M7. Molecular characterization of the 7p15 breakpoint showed that this was localized within a fully sequenced PAC clone RP1-170O19 containing the HOXA4 to HOXA13 genes and the EVX1 gene. The 9q34 breakpoint was mapped distal to ABL1 and proximal to NOTCH1 excluding their involvement as fusion gene partners. Our findings suggest a causal role for HOXA genes in childhood myelodysplasia and warrant investigation of this locus in a larger series of patients.

Publication types

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

MeSH terms

Chromosomes, Human, Pair 7*
Chromosomes, Human, Pair 9*
Female
Homeodomain Proteins / genetics*
Humans
Infant
Karyotyping
Myelodysplastic Syndromes / genetics*
Translocation, Genetic*

Substances

Homeodomain Proteins
HoxA protein