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

• Kim WS
• Park G
• Jang SJ
• Moon DS
• Kang SH

• KMID: 2312282
• DOI: http://doi.org/10.3343/lmo.2015.5.2.101

Abstract

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.

Keyword

Chronic myelogenous leukemia; Four-way Philadelphia translocation; Imatinib

MeSH Terms

Bone Marrow Cells
Fluorescence
Humans
In Situ Hybridization
Karyotype
Leukemia, Myelogenous, Chronic, BCR-ABL Positive*
Philadelphia Chromosome
Polymerase Chain Reaction
Imatinib Mesylate

Figure

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  Fig. 1. (A) G-banded karyotype of bone marrow cells demonstrating the t(5;9;22;18)(q31;q34;q11.2;q21) translocation. Arrows indicate rearranged chromosomes. (B) Gel electrophoresis of the reverse transcriptase-nested PCR products. It demonstrated the BCR-ABL1 gene rearrangement. Lane 1, molecular weight marker; Lane 2, a 443-bp band corresponding to the b3a2 rearrangement from the patient; Lane 3, positive control (b3a2, 443 bp); Lane 4, negative control.

• 

  Fig. 2. Karyotype of a bone marrow cell using multicolor fluorescence in situ hybridization. A four-way translocation involving chromosomes 5, 9, 18, and 22 was identified. Arrows indicate the four rearranged chromosomes.

Reference

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