t(7;17)(q32-34;q23) MSI2/?

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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-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1402

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 40 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); 2 mths later, a blast crisis occurred, and the patient died 9 mths after the AP-CML, 33 mths 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

Note The gene involved on chromosome 7 is undefined, due to a lack of material for further analysis, but it seems to be a gene of the plexin family, with, perhaps, a sema domain, a plexin repeat, and an immunoglobulin-like plexin transcription factor domain
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. 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.

6. 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

7. Citation

This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2006;10(1):19-19.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://atlasgeneticsoncology.usal.es/classic/Anomalies/t0717q33q23ID1402.html

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

 t(7;17)(q32;q23) MSI2/?

9. External links

Mitelman databaset(7;17)(q32;q23) [Case List]    t(7;17)(q32;q23) [Transloc-MCList] MSI2/? [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 28 16:18:49 CET 2018

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