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t(8;22)(p11;q11) BCR::FGFR1

Written2002-01Nicholas C P Cross
Department of Molecular and Developmental Biology, Kawasaki Medical School, Kurashiki, Okayama 701-0192, Japan

(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 1224
  it(8;22)(p11;q11) G- banding - Courtesy Jean-Luc Lai (left), Courtesy Diane H Norback, Eric B Johnson, and Sara Morrison-Delap, UW Cytogenetic Services (right).

Clinics and Pathology

Disease Described in only 3 cases, all of whom had a CML-like (chronic myelogenous leukemia-like) disease. Two had also had an excesss of B-lymphocytes in the marrow.
Phenotype / cell stem origin Involvement of both myeloid and lymphoid cells, so likely to be a stem cell. disorder
Evolution At the time of writing, one patient had undergone myeloid transformation and a second patient underwent lymphoid transformation followed shortly by myeloid transformation. In common with other patients with FGFR1 fusion genes, the disease therefore appears to be aggressive.


Cytogenetics Morphological All three patients had a t(8;22)(p11;q11) identified by cytogenetics.

Genes involved and Proteins

Gene NameFGFR1 (Fibroblast Growth Factor Receptor 1)
Location 8p11.23
Protein Receptor tyrosine kinase for FGF ligands, also involved in the t(6;8)(q27;p12), t(8;9)(p12;q32-34) and t(8;13)(p12;q12)
Gene NameBCR (Breakpoint cluster region)
Location 22q11.23
Protein Normal function unclear; fuses to ABL in CML .

Result of the chromosomal anomaly

Hybrid gene
Description 5'BCR - 3'FGFR1
Transcript All three patients has BCR exon 4 fused to FGFR1 exon 9
Detection RT-PCR or FISH
Fusion Protein
Description Contains the coiled-coil domain of BCR, the BCR Y177 Grb2 binding site and the entire tyrosine kinase domain of FGFR1.
Oncogenesis Analogous to BCR-ABL: constitutive activation of FGFR1 tyrosine kinase. Transforms Ba/F3 cells to IL-3 independence. Transformed cells are not affected by imatinib (Gleevec/Glivec/STI571) but are inhibited by compounds with anti-FGFR activity.

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(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.
Demiroglu A, Steer EJ, Heath C, Taylor K, Bentley M, Allen SL, Koduru P, Brody JP, Hawson G, Rodwell R, Doody ML, Carnicero F, Reiter A, Goldman JM, Melo JV, Cross NC
Blood. 2001 ; 98 (13) : 3778-3783.
PMID 11739186
Fusion of the BCR and the fibroblast growth factor receptor-1 (FGFR1) genes as a result of t(8;22)(p11;q11) in a myeloproliferative disorder: the first fusion gene involving BCR but not ABL.
Fioretos T, Panagopoulos I, Lassen C, Swedin A, Billström R, Isaksson M, Strömbeck B, Olofsson T, Mitelman F, Johansson B
Genes, chromosomes & cancer. 2001 ; 32 (4) : 302-310.
PMID 11746971


This paper should be referenced as such :
Cross, NCP
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):125-126.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes FGFR1 GAB2

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;22)(p11;q11) BCR/FGFR1

External links

BCR (22q11.23) FGFR1 (8p11.23)

BCR (22q11.23) FGFR1 (8p11.23)

Mitelman databaset(8;22)(p11;q11)
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 databaseBCR::FGFR1 [MCList]  BCR (22q11.23) FGFR1 (8p11.23)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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