| Clinics and Pathology |
| Disease | Juvenile myelomonocytic leukemia. |
| Epidemiology | Only one case available to date: a 18-month-old boy. |
| Clinics | Marked hepatosplenomegaly, trombocytopenia. |
| Cytology | Peripheral blood leukocytosis with eosinophilia, bone marrow fibrosis (grade III), dry tap. |
| Treatment | Allogeneic BMT. |
| Evolution | Alive and free of disease after 4 years. |
| Cytogenetics |
| Probes | LSI CSF1R probe (Vysis) for PDGFRB (5q33); RP11-7904 (telomeric) and RP11-81D5 (centromeric) for HCMOGT-1 (p11.2). |
| Genes involved and Proteins |
| Gene Name | PDGFRB |
| Location | 5q33 |
| Protein | Ig like, transmembrane and tyrosine kinase domains. |
| Gene Name | HCMOGT-1 |
| Location | 17p11.2 |
| Result of the chromosomal anomaly |
| Description | 5'HCMOGT-1/3'PDGFRB The HCMOGT1 cDNA sequence was fused in-frame to PDGFRB at nucleotide 1936 and situated 5' to the PDGFRB portion, as in previous studies of PDGFRB fusion partners. |
| Transcript | HCMOGT-1/PDGFRB chimeric RNA present. |
| Description | Coiled-coil domain from HCMOGT-1 fused to the transmembrane domain and the Tyr kinase domain of PDGFRB; the reciprocal PDGFRB/HCMOGT-1 transcript is not expressed. |
| External links |
| Other database | t(5;17)(q33;p11.2) | Mitelman database (CGAP - NCBI) | |
| Other database | t(5;17)(q33;p11.2) | CancerChromosomes (NCBI) |
| To be noted |
| . |
| Bibliography |
| Nitrosative stress in rotated three-dimensional colorectal carcinoma cell cultures induces microtubule depolymerization and apoptosis. |
| Laguinge LM, Lin S, Samara RN, Salesiotis AN, Jessup JM |
| Cancer research. 2004 ; 64 (8) : 2643-2648. |
| PMID 15087371 |
| Contributor(s) |
| Written | 09-2004 | Claudio Panarello |
| Citation |
| This paper should be referenced as such : |
| Panarello C . t(5;17)(q33;p11.2). Atlas Genet Cytogenet Oncol Haematol. Septem
ber 2004 . URL : http://AtlasGeneticsOncology.org/Genes/t0517q33p11ID1327.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:06:48 2008 |
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