| Clinics and Pathology |
| Disease | Myeloproliferative disorder (atypical chronic myelogenous leukaemia (a-CML)) |
| Note | BCR-ABL negative myeloproliferative disease undistinguishable from CML otherwise |
| Epidemiology | only one case to date, a 32 year old female patient |
| Prognosis | Unknown; the patient received bone marrow transplantation, relpapsed 4 years later, and was in complete remission 6 months after treatment of the relapse. |
| Genes involved and Proteins |
| Gene Name | SPTBN1 |
| Protein | Scaffold protein; forms homo)tetrameres; non-erythrocytic beta-spectrin; joins the actin cytoskeleton to the plasma membrane |
| Gene Name | FLT3 |
| Location | 13q12 |
| Protein | Class III receptor tyrosine kinase (RTK); promotes signalling through posphorylation of multiple proteins and activation of several downstream signalling pathways, such as the Ras/Raf/MAPK and PI3 kinase cascades. |
| Result of the chromosomal anomaly |
| Description | fusion of exon 3 of SPTBN1 and exon 13 of FLT3 |
| Description | Encodes a 66 kDa protein which retains the 2 coiled-coil domains of SPTBN1 and the tyrosine kinase domain of FLT3 |
| Expression Localisation | Expresssion of the fusion protein transformed Ba/F3 cells to growth factor independance |
| Oncogenesis | Constitutive phosphorylation |
| External links |
| Other database | t(2;13)(p16;q12) | Mitelman database (CGAP - NCBI) | |
| Other database | t(2;13)(p16;q12) | 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 |
| A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy. |
| Grand FH, Iqbal S, Zhang L, Russell NH, Chase A, Cross NC |
| Experimental hematology. 2007 ; 35 (11) : 1723-1727. |
| PMID 17764812 |
| Contributor(s) |
| Written | 09-2007 | Jean-Loup Huret |
| Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(2;13)(p16;q12). Atlas Genet Cytogenet Oncol Haematol. Septem
ber 2007 . URL : http://AtlasGeneticsOncology.org/Genes/t0213p16q12ID1212.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:06:25 2008 |
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