Humpath.com - Human pathology

Home > A. Molecular pathology > GAB2

GAB2

MIM.606203 11q13.4-q13.5

Friday 14 September 2007

Chromosome arm 11q amplifications involving the mixed lineage leukemia gene (MLL) locus are rare but recurrent aberrations in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). GAB2 is a novel target of 11q amplification in AML/MDS.

In addition to the MLL core amplicon, independent sequences in 11q23-24 and/or 11q13.5 are coamplified within the same cytogenetic markers in 90% and 60% of patients, respectively.

The minimal amplicon in 11q13.5 measures 1.17 Mb.

Pathology

The adaptor molecule GAB2 enhance oncogenic signaling in other neoplasias.

References

- Zatkova A, Schoch C, Speleman F, Poppe B, Mannhalter C, Fonatsch C, Wimmer K. GAB2 is a novel target of 11q amplification in AML/MDS. Genes Chromosomes Cancer. 2006 Sep;45(9):798-807. PMID: 16736498