t(2;13)(p16;q12) SPTBN1/FLT3

2007-09-01   Jean-Loup Huret 

1.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

Pubmed IDYearTitleCitations
177648122007A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy.12

Bibliography

Pubmed IDLast YearTitleAuthors
177648122007A constitutively active SPTBN1-FLT3 fusion in atypical chronic myeloid leukemia is sensitive to tyrosine kinase inhibitors and immunotherapy.Grand FH et al

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)