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

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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)

1. Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1362

2. 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.

3. Cytogenetics

Cytogenetics Morphological at(9;22)(q34;q11) was, indeed, present
Cytogenetics Molecular Cryptic translocation; recognized by multicolor FISH plus locus-specific FISH

4. 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.

5. 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
  

6. 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.

7. Bibliography

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
 

8. Citation

This paper should be referenced as such :
Huret, JL
t(7;17)(p15;q23)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):17-18.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t0717p15q23ID1362.html


9. Translocations implicated (Data extracted from papers in the Atlas)

 t(7;17)(p15;q23) MSI2/HOXA9

10. External links

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

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

Mitelman databaset(7;17)(p15;q23) [Case List]    t(7;17)(p15;q23) [Transloc-MCList] MSI2/HOXA9 [Fusion-MCList]
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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indexed on : Wed Nov 28 16:18:48 CET 2018

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