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

Written2005-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1362

Clinics and Pathology

Disease Chronic myelogenous leukemia (CML) in accelerated phase (AP-CML)
Epidemiology only one case to date, a female patient, aged a 50 at the time of the AP-CML
Prognosis 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 NameHOXA9 (homeobox A9)
Location 7p15.2
Protein 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 NameMSI2 (musashi homolog 2 (drosophila))
Location 17q22
Dna / Rna at least 15 exons; various splicing.
Protein 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

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

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Vertebrate 2xRBD hnRNP proteins: a comparative analysis of genome, mRNA and protein sequences.
Akindahunsi AA, Bandiera A, Manzini G
Computational biology and chemistry. 2005 ; 29 (1) : 13-23.
PMID 15680582
A 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, Höglund M, Johansson B, Lassen C, Nilsson PG, Hagemeijer A, Mitelman F, Fioretos T
Cancer research. 2003 ; 63 (6) : 1202-1206.
PMID 12649177
RNA-binding protein Musashi family: roles for CNS stem cells and a subpopulation of ependymal cells revealed by targeted disruption and antisense ablation.
Sakakibara S, Nakamura Y, Yoshida T, Shibata S, Koike M, Takano H, Ueda S, Uchiyama Y, Noda T, Okano H
Proceedings of the National Academy of Sciences of the United States of America. 2002 ; 99 (23) : 15194-15199.
PMID 12407178


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):17-18.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes MSI2

Translocations implicated (Data extracted from papers in the Atlas)

 t(7;17)(p15;q23) MSI2/HOXA9

External links

MSI2 (17q22) HOXA9 (7p15.2)

MSI2 (17q22) HOXA9 (7p15.2)

Mitelman databaset(7;17)(p15;q23)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseMSI2/HOXA9 [MCList]  MSI2 (17q22) HOXA9 (7p15.2)
TICdbMSI2/HOXA9  MSI2 (17q22) HOXA9 (7p15.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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