| Clinics and Pathology |
| Disease | Atypical chronic myeloid leukemia (a-CML) |
| Epidemiology | Only one case to date with ascertainment of the genes involved (another case was a 18 yr old female patient with a M2 acute non lymphocytic leukemia (ANLL) and a t(7;11)(p15;p15); the t(5; 14) appeared at relapse, 5 mths before death, 27 mths after diagnosis). |
| Clinics | The sole case of t(5;14)(q33;q32) with certain PDGFRB/KIAA1509 involvement was a 42 yr old male patient, BCR-ABL negative, treatad with imatinib, and maintained in complete remission 18 mths after diagnosis. |
| Genes involved and Proteins |
| Gene Name | PDGFRB |
| Location | 5q33 |
| Protein | PDGFRB is the receptor for PDGFB (platelet-derived growth factor-b); Ig like, transmembrane and tyrosine kinase domains; membrane tyrosine kinase; can homodimerize |
| Gene Name | KIAA1509 |
| Location | 14q32 |
| Protein | poorly known; 1935 amino acids; possess a coiled coil domain. |
| Result of the chromosomal anomaly |
| Description | 5' KIAA1509-3' PDGFRB; breakpoint in PDGFRB intron 10, identical to most PDGFRB breakpoints |
| Description | 934 amino acids composed of the 355 amino acids from KIAA1506 in N-term and 579 amino acids from PDGFRB C-term |
| Oncogenesis | the coiled coil domain may mediate PDGFRB homodimerization and constitutive activation |
| External links |
| Other database | t(5;14)(q33;q32) PDGFRB/KIAA1509 | Mitelman database (CGAP - NCBI) | |
| Other database | t(5;14)(q33;q32) PDGFRB/KIAA1509 | 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 |
| Acute myeloblastic leukemia (M2) with translocation (7;11) followed by marked eosinophilia and additional abnormalities of chromosome 5. |
| Abe A, Tanimoto M, Towatari M, Matsuoka A, Kitaori K, Kato H, Toyozumi H, Takeo T, Adachi K, Emi N |
| Cancer genetics and cytogenetics. 1995 ; 83 (1) : 37-41. |
| PMID 7656202 |
| KIAA1509 is a novel PDGFRB fusion partner in imatinib-responsive myeloproliferative disease associated with a t(5;14)(q33;q32). |
| Levine RL, Wadleigh M, Sternberg DW, Wlodarska I, Galinsky I, Stone RM, DeAngelo DJ, Gilliland DG, Cools J |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2005 ; 19 (1) : 27-30. |
| PMID 15496975 |
| Contributor(s) |
| Written | 02-2006 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(5;14)(q33;q32) PDGFRB/KIAA1509. Atlas Genet Cytogenet Oncol Haematol. February 2006 . URL : http://AtlasGeneticsOncology.org/Genes/t0514q33q32ID1379.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 6 18:02:40 2008 |
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