t(7;17)(p15;q23) MSI2/HOXA9

2005-08-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Chronic myelogenous leukemia (CML) in accelerated phase (AP-CML)


only one case to date, a female patient, aged a 50 at the time of the AP-CML


Chronic phase of CML lasted 2 yrs before progression into an accelerated phase accompanied with the appearance of the t(7;17); the patient died in blast crisis of the CML 13 mths after the AP-CML, 3 yrs after initial diagnosis of CML.


Cytogenetics morphological

at(9;22)(q34;q11) was, indeed, present

Cytogenetics molecular

Cryptic translocation; recognized by multicolor FISH plus locus-specific FISH

Genes Involved and Proteins

Gene name
HOXA9 (homeobox A9)
Protein description
DNA binding domain (homeobox) in C-term (amino acids 206 to 265); sequence specific transcription factor; Hox proteins are in linear arrangement correlated with the genes expression during embryogenesis; regulate cell proliferation, cell migration, and segmental embryonic patterning
Gene name
MSI2 (musashi homolog 2 (drosophila))
Dna rna description
at least 15 exons; various splicing.
Protein description
possesses 2 RNA recognition motifs; likely to be a RNA binding protein; may play a role in RNA metabolism in the cytoplasm; The mouse homolog is ubiquitous, and particularly active in the brain development.

Result of the Chromosomal Anomaly


5 MSI2 - 3 HOXA9; in frame fusion of MSI2 exon 9 to the intermediate alternatively spliced exon 1b (IME) of HOXA9contains, from N-term to C-term, the 2 RNA recognition motifs of MSI2 and the the IME and the homeobox domain of HOXA9


Pubmed IDLast YearTitleAuthors
156805822005Vertebrate 2xRBD hnRNP proteins: a comparative analysis of genome, mRNA and protein sequences.Akindahunsi AA et al
126491772003A novel gene, MSI2, encoding a putative RNA-binding protein is recurrently rearranged at disease progression of chronic myeloid leukemia and forms a fusion gene with HOXA9 as a result of the cryptic t(7;17)(p15;q23).Barbouti A et al
124071782002RNA-binding protein Musashi family: roles for CNS stem cells and a subpopulation of ependymal cells revealed by targeted disruption and antisense ablation.Sakakibara S et al


Fusion gene

MSI2/HOXA9 MSI2 (17q22) HOXA9 (7p15.2) M t(7;17)(p15;q22)|MSI2/HOXA9 MSI2 (17q22) HOXA9 (7p15.2) TIC


Jean-Loup Huret

t(7;17)(p15;q23) MSI2/HOXA9

Atlas Genet Cytogenet Oncol Haematol. 2005-08-01

Online version: http://atlasgeneticsoncology.org/haematological/1362/t(7;17)(p15;q23)