| 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. |
| Cytogenetics |
| 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 |
| 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 Name | MSI2 |
| Location | 17q23.2 |
| 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. |
| 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. |
| Bibliography |
| Rna-binding protein Musashi2: developmentally regulated expression in neural precursor cells and subpopulations of neurons in mammalian CNS. |
| Sakakibara S, Nakamura Y, Satoh H, Okano H |
| The Journal of neuroscience : the official journal of the Society for Neuroscience. 2001 ; 21 (20) : 8091-8107. |
| PMID 11588182 |
| 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 |
| Multicolor COBRA-FISH analysis of chronic myeloid leukemia reveals novel cryptic balanced translocations during disease progression. |
| Barbouti A, Johansson B, Hglund M, Mauritzson N, Strmbeck B, Nilsson PG, Tanke HJ, Hagemeijer A, Mitelman F, Fioretos T |
| Genes, chromosomes & cancer. 2002 ; 35 (2) : 127-137. |
| PMID 12203776 |
| 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, Hglund M, Johansson B, Lassen C, Nilsson PG, Hagemeijer A, Mitelman F, Fioretos T |
| Cancer research. 2003 ; 63 (6) : 1202-1206. |
| PMID 12649177 |
| 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 |
| Contributor(s) |
| Written | 08-2005 | Jean Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(7;17)(q32-34;q23). Atlas Genet Cytogenet Oncol Haematol. August 2005 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0717q33q23ID1402.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/38270/1/08-2005-t0717q33q23ID1402.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:37:27 CET 2013 |
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