| 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 |
| 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 |
| Location | 7p15 |
| 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 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. |
| Result of the chromosomal anomaly |
| Description | 5' MSI2 - 3' HOXA9; in frame fusion of MSI2 exon 9 to the intermediate alternatively spliced exon 1b (IME) of HOXA9 |
| 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 |
| External links |
| Other database | t(7;17)(p15;q23) | Mitelman database (CGAP - NCBI) | |
| Other database | t(7;17)(p15;q23) | CancerChromosomes (NCBI) |
| 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)(p15;q23). Atlas Genet Cytogenet Oncol Haematol. August 2005 . URL : http://AtlasGeneticsOncology.org/Genes/t0717p15q23ID1362.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Jul 14 16:33:16 2008 |
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