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

2002-01-01   Nicholas C P Cross 

1.Department of Molecular and Developmental Biology, Kawasaki Medical School, Kurashiki, Okayama 701-0192, Japan

Clinics and Pathology


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 stem cell origin

Involvement of both myeloid and lymphoid cells, so likely to be a stem cell. disorder


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.

Genes Involved and Proteins

Gene name
FGFR1 (Fibroblast Growth Factor Receptor 1)
Protein description
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 name
BCR (Breakpoint cluster region)
Protein description
Normal function unclear; fuses to ABL in CML .

Result of the Chromosomal Anomaly




All three patients has BCR exon 4 fused to FGFR1 exon 9

Detection protocole



Contains the coiled-coil domain of BCR, the BCR Y177 Grb2 binding site and the entire tyrosine kinase domain of FGFR1.


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.

Highly cited references

Pubmed IDYearTitleCitations
272451472016FGFR inhibitors: Effects on cancer cells, tumor microenvironment and whole-body homeostasis (Review).130
150509202004Distinct stem cell myeloproliferative/T lymphoma syndromes induced by ZNF198-FGFR1 and BCR-FGFR1 fusion genes from 8p11 translocations.51
176986332007Activity of TKI258 against primary cells and cell lines with FGFR1 fusion genes associated with the 8p11 myeloproliferative syndrome.39
117391862001The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.36
228756132013Ponatinib as targeted therapy for FGFR1 fusions associated with the 8p11 myeloproliferative syndrome.23
227016162012Acute progression of BCR-FGFR1 induced murine B-lympho/myeloproliferative disorder suggests involvement of lineages at the pro-B cell stage.18
173941342007Fusion gene-mediated truncation of RUNX1 as a potential mechanism underlying disease progression in the 8p11 myeloproliferative syndrome.15
297355502018miR-339 Promotes Development of Stem Cell Leukemia/Lymphoma Syndrome via Downregulation of the BCL2L11 and BAX Proapoptotic Genes.14
216280712011t(8;22)/BCR-FGFR1 myeloproliferative disorder presenting as B-acute lymphoblastic leukemia: report of a case treated with sorafenib and review of the literature.13
205549712010Modeling the human 8p11-myeloproliferative syndrome in immunodeficient mice.13
205949952010B-cell acute lymphoblastic leukemia as evolution of a 8p11 myeloproliferative syndrome with t(8;22)(p11;q11) and BCR-FGFR1 fusion gene.11
158708602005Dual lympho-myeloproliferative disorder in a patient with t(8;22) with BCR-FGFR1 gene fusion.11
314396732020Oncogenic fusion protein BCR-FGFR1 requires the breakpoint cluster region-mediated oligomerization and chaperonin Hsp90 for activation.10
293677572018The miR-17/92 cluster is involved in the molecular etiology of the SCLL syndrome driven by the BCR-FGFR1 chimeric kinase.9
277858082016A model of BCR-FGFR1 driven human AML in immunocompromised mice.9
231718342013A case of 8p11 myeloproliferative syndrome with BCR-FGFR1 gene fusion presenting with trilineage acute leukemia/lymphoma, successfully treated by cord blood transplantation.8
2123905820118p11 Myeloproliferative syndrome with BCR-FGFR1 rearrangement presenting with T-lymphoblastic lymphoma and bone marrow stromal cell proliferation: a case report and review of the literature.8
125224552002A fourth case of BCR-FGFR1 positive CML-like disease with t(8;22) translocation showing an extensive deletion on the derivative chromosome 8p.8
288814842017Primary cells in BCR/FGFR1-positive 8p11 myeloproliferative syndrome are sensitive to dovitinib, ponatinib, and dasatinib.7
285513292017Myeloproliferative neoplasms with t(8;22)(p11.2;q11.2)/BCR-FGFR1: a meta-analysis of 20 cases shows cytogenetic progression with B-lymphoid blast phase.7
221060252012Favorable outcome of allogeneic hematopoietic cell transplantation for 8p11 myeloproliferative syndrome associated with BCR-FGFR1 gene fusion.7
230822582012Allogeneic Hematopoietic Stem Cell Transplantation for a BCR-FGFR1 Myeloproliferative Neoplasm Presenting as Acute Lymphoblastic Leukemia.7
174311322007Enhanced phosphorylation of Nbs1, a member of DNA repair/checkpoint complex Mre11-RAD50-Nbs1, can be targeted to increase the efficacy of imatinib mesylate against BCR/ABL-positive leukemia cells.7
304394822019Distinct signaling programs associated with progression of FGFR1 driven leukemia in a mouse model of stem cell leukemia lymphoma syndrome.5
304134112019Loss of the BCR-FGFR1 GEF Domain Suppresses RHOA Activation and Enhances B-Lymphomagenesis in Mice.5
315252772020Critical individual roles of the BCR and FGFR1 kinase domains in BCR-FGFR1-driven stem cell leukemia/lymphoma syndrome.4
300874622019Allogeneic hematopoietic stem cell transplantation for 8p11 myeloproliferative syndrome with BCR-FGFR1 gene rearrangement: a case report and literature review.4
235195132013A case of acute myelogenous leukaemia characterised by the BCR-FGFR1 translocation.4
3011639320188p11 Myeloproliferative syndrome with t(8;22)(p11;q11): A case report.3
272831632016Cytogenetic Evolution Associated With Disease Progression in Hematopoietic Neoplasms With t(8;22)(p11;q11)/BCR-FGFR1 Rearrangement.3
233286832013Acute leukemia showing t(8;22)(p11;q11), myelodysplasia, CD13/CD33/CD19 expression and immunoglobulin heavy chain gene rearrangement.3
306479802018A Case of Myeloproliferative Neoplasm with BCR-FGFR1 Rearrangement: Favorable Outcome after Haploidentical Allogeneic Transplantation.2
273137532016Chronic myelogenous leukemia-like hematological malignancy with t(8;22) in a 26-year-old pregnant woman: A case report.2
337893752021[Application of transcriptome sequencing and fusion genes analysis in the diagnosis of myeloid leukemia with normal karyotype].1
315240182020Leukemic lineage switch in a t(8;22)(p11.2;q11.2)/BCR-FGFR1-rearranged myeloid/lymphoid neoplasm with RUNX1 mutation - diagnostic pitfalls and clinical management including FGFR1 inhibitor pemigatinib.1
319805032020Functional characterization of two rare BCR-FGFR1+ leukemias.1
355742182022Proteomic analysis reveals dual requirement for Grb2 and PLCγ1 interactions for BCR-FGFR1-Driven 8p11 cell proliferation.0
344931592021A case of a patient characterized by t(8;22)(p11;q11) and BCR/FGFR1 fusion gene, who was successfully treated with haploidentical hematopoietic stem cell transplantation.0
345513782021A rare case of atypical chronic myeloid leukemia associated with t(8;22)(p11.2;q11.2)/ BCR-FGFR1 rearrangement: A case report and literature review.0


Pubmed IDLast YearTitleAuthors
117391862001The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins.Demiroglu A et al
117469712001Fusion 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 et al


Fusion gene

BCR/FGFR1 BCR (22q11.23) FGFR1 (8p11.23) M t(8;22)(p11;q11)|BCR/FGFR1 BCR (22q11.23) FGFR1 (8p11.23) TIC
Atlas Image
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).


Nicholas C P Cross

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

Atlas Genet Cytogenet Oncol Haematol. 2002-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1224/t(8;22)(p11;q11)