Open AccessSaudi Arabian CML patient with a novel four‐way translocation at t(9;22;5;2)(q34;q11.2;p13;q44)
Author(s) -
Dridi Walid,
Kanfar Solaf,
Sleiman Patrick M. A.,
Liu Yichuan,
Hakonarson Hakon,
Rammah Hayaal,
Matrouk Alia
Publication year - 2022
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1865
Subject(s) - chromosomal translocation , fusion gene , myeloid leukemia , fluorescence in situ hybridization , breakpoint cluster region , fusion transcript , abl , medicine , cancer research , philadelphia chromosome , biology , tyrosine kinase , chromosome , genetics , gene , receptor
Background The vast majority of chronic myeloid leukemia (CML) patients have a single translocation t(9;22)(q34;q11), BCR/ABL1 fusion genes, which is regarded as the hallmark of CML. However, around 5 to 10% of CML patients exhibit the involvement of a third chromosome. In some very rare cases a fourth or even fifth chromosome can be involved with the t(9;22). Methods This case report is based on a 40‐year‐old Saudi Arabian male patient, diagnosed with CML in lymphoid blast crisis, and observed to have a four‐way 46 XY, t(9;22;5;2)(q34;q11.2;p13;q44) translocation. The BCR/ABL1 fusion was identified by fluorescent in situ hybridization (FISH). Additionally, the BCR/ABL1 p210 mRNA fusion transcripts were identified by a molecular test. Results The clinical and prognostic impact of additional partner chromosomes to t(9;22) remains unknown. The CML patient with this novel four‐way translocation t(9;22;5;2) progressed to blast crisis and was resistant to Tyrosine Kinase Inhibitor (TKI) therapy. Therefore, this case is more in alignment with the negative impact of additional partner chromosomes to the translocation at t(9;22). Conclusion Here we report for the first time a novel four‐way translocation at t(9;22;5;2)(q34;q11.2;p13;q44).