t(3;5)(p21;q32) RBM6/CSF1R

2010-12-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


MKPL-1 cell line, established from a 66-year-old male patient with an acute megakaryoblastic leukemia (M7-AML) and a karyotype apparently with -21,+3mar (Takeuchi et al., 1992), re-analysed for tyrosine kinase dysregulation (Gu et al., 2007).


Only one case to date.

Genes Involved and Proteins

Gene name
RBM6 (RNA binding motif protein 6)
Protein description
From N-term to C-term, contains a BTB/POZ domain (mediates homomeric dimerization) and decamer repeat domains, responsible for multimerization/self-association of the protein, RRM1 and RRM2 (RNA recognition motif) domains, an octamer repeat, a C2H2 zinc finger, a nuclear localisation signal, and a G-patch (made of highly conserved glycines; may have RNA binding functions). RNA-binding protein. Binds poly(G). Splicing factor (Heath et al., 2010).
Gene name
CSF1R (colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog)
Protein description
Contains Ig-like domains (extracellular), a transmembrane domain, and a split tyrosine kinase domain (intracellular), from N-term to C-term. Transmembrane glycoprotein, receptor for the ligand colony stimulating factor-1 (CSF1). Upon binding of CSF1, CSF1R tyrosine phosphorylation is induced leading to RAS/RAF/MAPK, PI3K/AKT/mTOR and JAK/STAT (specifically STAT1, STAT3, and STAT5) pathways activation. CSF1R activation by CSF1 results in increased growth, proliferation and differentiation (Fischer et al., 2008).

Result of the Chromosomal Anomaly


Fusion of RBM6 exon 2 to CSF1R exon 12; the reciprocal CSF1R-RBM6 was not detected.The RBM6-CSF1R fusion protein consists of the amino terminal 36 amino acids of RBM6, fused to the carboxy terminal 399 amino acids of CSF1R, including a polymerisation domain of RBM6, and the tyrosine kinase domain of CSF1R.


Constitutive tyrosine kinase activation.

Highly cited references

Pubmed IDYearTitleCitations
173609412007A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia.17


Pubmed IDLast YearTitleAuthors
173609412007A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia.Gu TL et al
210860382010Subnuclear targeting of the RNA-binding motif protein RBM6 to splicing speckles and nascent transcripts.Heath E et al
16027961992Acute megakaryoblastic leukemia: establishment of a new cell line (MKPL-1) in vitro and in vivo.Takeuchi S et al


Fusion gene

RBM6/CSF1R RBM6 (3p21.31) CSF1R (5q32) M t(3;5)(p21;q33)|RBM6/CSF1R RBM6 (3p21.31) CSF1R (5q32) TIC


Jean-Loup Huret

t(3;5)(p21;q32) RBM6/CSF1R

Atlas Genet Cytogenet Oncol Haematol. 2010-12-01

Online version: http://atlasgeneticsoncology.org/haematological/2139/t(3;5)(p21;q32)