Lab Med Online.  2015 Apr;5(2):101-105. 10.3343/lmo.2015.5.2.101.

A Novel Four-Way Translocation t(5;9;22;18)(q31;q34;q11.2;q21) in a Patient with Chronic Myelogenous Leukemia

  • 1Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, Korea.


Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, which is generated by a reciprocal t(9;22)(q34;q11) translocation. Variant Philadelphia chromosomes, found in 5-10% of CML cases, are a result of translocations involving other chromosomes, in addition to 9 and 22. These four-way Philadelphia chromosome translocations are very rare; only about 60 patients with such chromosomes have been described. Here, we report a CML case with a novel four-way variant Philadelphia chromosome. A conventional chromosome analysis of bone marrow cells revealed a 46,XY,t(5;9;22;18)(q31;q34;q11.2;q21) karyotype, which was confirmed by multicolor fluorescence in situ hybridization. The major BCR-ABL1 fusion gene was detected by reverse transcription-nested PCR. The patient was treated with imatinib. Twelve months after treatment, he demonstrated a complete hematologic response and chromosome analysis showed that he had a normal karyotype.


Chronic myelogenous leukemia; Four-way Philadelphia translocation; Imatinib
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