Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

t(8;12)(p12;q15) CPSF6::FGFR1

Written2008-07Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9967/3 Myeloid and lymphoid neoplasms with FGFR1 rearrangement
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
Atlas_Id 1201

Clinics and Pathology

Disease 8p11 myelopreoliferative syndrome (EMS)
Phenotype / cell stem origin Patients with EMS present with a myeloproliferative syndrome (MPS) with eosinophilia and a T-cell non Hodgkin lymphoma (NHL).
Epidemiology Only one case to date, a 75 year old female patient (Sohal et al., 2001; Hidalgo-Curtis et al., 2008).
Evolution The patient died 2 months after diagnosis, due to her lymphoma.


Additional anomalies The t(8;12) was the sole anomaly.

Genes involved and Proteins

Gene NameFGFR1 (Fibroblast Growth Factor Receptor 1)
Location 8p11.23
Protein Receptor tyrosine kinase; contains an extracellular ligand-binding domain with Ig-like structures, a transmembrane domain, and a cytosolic tyrosine kinase (TK) domain. Involved in signal transduction.
Gene NameCPSF6 (cleavage and polyadenylation specific factor 6)
Location 12q15
Protein Contains a RNA recognition motif (RRM), a proline rich domain, and an arginine rich domain. Involved in pre-mRNA processing.

Result of the chromosomal anomaly

Hybrid gene
Description 5' CPSF6-3' FGFR1; fusion of CPSF6 intron 8 to FGFR1 exon 9, at nucleotide 1272 from ATG.
Fusion Protein
Description 895 amino acids protein (97 kDa) with the RRM domain of CPSF6, fused to the TK domain of FGFR1.

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.


The t(1;9)(p34;q34) and t(8;12)(p11;q15) fuse pre-mRNA processing proteins SFPQ (PSF) and CPSF6 to ABL and FGFR1.
Hidalgo-Curtis C, Chase A, Drachenberg M, Roberts MW, Finkelstein JZ, Mould S, Oscier D, Cross NC, Grand FH.
Genes Chromosomes Cancer. 2008 May;47(5):379-85.
PMID 18205209
Identification of four new translocations involving FGFR1 in myeloid disorders.
Sohal J, Chase A, Mould S, Corcoran M, Oscier D, Iqbal S, Parker S, Welborn J, Harris RI, Martinelli G, Montefusco V, Sinclair P, Wilkins BS, van den Berg H, Vanstraelen D, Goldman JM, Cross NC.
Genes Chromosomes Cancer. 2001 Oct;32(2):155-63.
PMID 11550283


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(7):518-518.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

Genes FGFR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;12)(p12;q15) CPSF6/FGFR1

External links

CPSF6 (12q15) FGFR1 (8p11.23)

Mitelman databaset(8;12)(p12;q15)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9967/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9975/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseCPSF6::FGFR1 [MCList]  CPSF6 (12q15) FGFR1 (8p11.23)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 16:36:56 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us