t(2;13)(p16;q12) SPTBN1/FLT3
2007-09-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
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 (spectrin beta, non-erythrocytic 1)
Location
2p16.2
Protein description
Scaffold protein; forms homo)tetrameres; non-erythrocytic beta-spectrin; joins the actin cytoskeleton to the plasma membrane
Gene name
FLT3 (FMS-like tyrosine kinase 3)
Location
13q12.2
Protein description
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 FLT3Encodes 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
Highly cited references
Article Bibliography
Summary
Fusion gene
SPTBN1/FLT3 SPTBN1 (2p16.2) FLT3 (13q12.2) TIC
Citation
Jean-Loup Huret
t(2;13)(p16;q12) SPTBN1/FLT3
Atlas Genet Cytogenet Oncol Haematol. 2007-09-01
Online version: http://atlasgeneticsoncology.org/haematological/1212/t(2;13)(p16;q12)