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

Written2007-09Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1212

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 NameSPTBN1 (spectrin beta, non-erythrocytic 1)
Location 2p16.2
Protein Scaffold protein; forms homo)tetrameres; non-erythrocytic beta-spectrin; joins the actin cytoskeleton to the plasma membrane
Gene NameFLT3 (FMS-like tyrosine kinase 3)
Location 13q12.2
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

Hybrid gene
Description fusion of exon 3 of SPTBN1 and exon 13 of FLT3
Fusion Protein
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

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.


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


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2008;12(5):405-405.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;13)(p16;q12) SPTBN1/FLT3

External links

SPTBN1 (2p16.2) FLT3 (13q12.2)

Mitelman databaset(2;13)(p16;q12) [Case List]    t(2;13)(p16;q12) [Transloc-MCList] SPTBN1/FLT3 [Fusion-MCList]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
TICdbSPTBN1/FLT3  SPTBN1 (2p16.2) FLT3 (13q12.2)
REVIEW articlesautomatic search in PubMed
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indexed on : Fri Mar 16 15:49:16 CET 2018

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