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

Written2010-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 2139

Clinics and Pathology

Disease 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).
Epidemiology Only one case to date.

Genes involved and Proteins

Gene NameRBM6 (RNA binding motif protein 6)
Location 3p21.31
Protein 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 NameCSF1R (colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog)
Location 5q32
Protein 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

Hybrid gene
Description Fusion of RBM6 exon 2 to CSF1R exon 12; the reciprocal CSF1R-RBM6 was not detected.
Fusion Protein
Description 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.
Oncogenesis Constitutive tyrosine kinase activation.

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.


CSF1R (colony stimulating factor 1 receptor, formerly McDonough feline sarcoma viral (v-fms) oncogene homolog).
Fischer JA, Rossetti S, Sacchi N.
Atlas Genet Cytogenet Oncol Haematol. April 2008.
A novel fusion of RBM6 to CSF1R in acute megakaryoblastic leukemia.
Gu TL, Mercher T, Tyner JW, Goss VL, Walters DK, Cornejo MG, Reeves C, Popova L, Lee K, Heinrich MC, Rush J, Daibata M, Miyoshi I, Gilliland DG, Druker BJ, Polakiewicz RD.
Blood. 2007 Jul 1;110(1):323-33. Epub 2007 Mar 14.
PMID 17360941
Subnuclear targeting of the RNA-binding motif protein RBM6 to splicing speckles and nascent transcripts.
Heath E, Sablitzky F, Morgan GT.
Chromosome Res. 2010 Dec;18(8):851-72. Epub 2010 Nov 18.
PMID 21086038
Acute megakaryoblastic leukemia: establishment of a new cell line (MKPL-1) in vitro and in vivo.
Takeuchi S, Sugito S, Uemura Y, Miyagi T, Kubonishi I, Taguchi H, Enzan H, Ohtsuki Y, Miyoshi I.
Leukemia. 1992 Jun;6(6):588-94.
PMID 1602796


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2011;15(7):608-609.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes CSF1R

Translocations implicated (Data extracted from papers in the Atlas)

 t(3;5)(p21;q32) RBM6/CSF1R

External links

RBM6 (3p21.31) CSF1R (5q32)

RBM6 (3p21.31) CSF1R (5q32)

Mitelman databaset(3;5)(p21;q32)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseRBM6::CSF1R [MCList]  RBM6 (3p21.31) CSF1R (5q32)
REVIEW articlesautomatic search in PubMed
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