Novel Four-Way Variant Translocation, t(1;9;22;16)(q21;q34;q11.2;q24), in a Patient with Chronic Myeloid Leukemia

被引：0
|
作者：
Son, Han Joon [1 ]
Lee, Jong Ho [2 ]
机构：
[1] Yeungnam Univ, Med Ctr, Dept Lab Med, Daegu 42415, South Korea
[2] Yeungnam Univ, Coll Med, Dept Lab Med, Daegu 42415, South Korea
来源：
DIAGNOSTICS | 2024年 / 14卷 / 03期
关键词：
chronic myeloid leukemia; four-way variant translocation; philadelphia chromosome; nilotinib; CHRONIC MYELOGENOUS LEUKEMIA; PROGNOSIS; DELETION; THERAPY; GENESIS; CML;
D O I：
10.3390/diagnostics14030303
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Chronic myeloid leukemia (CML) is characterized by the Philadelphia (Ph) chromosome resulting from the translocation of t(9;22)(q34;q11), producing the BCR::ABL1 fusion gene. Variant Ph chromosome translocations, involving rearrangements in chromosomes other than 9 and 22, occur in 5-10% of CML cases. Herein, we report a unique case of a 36-year-old male with a four-way variant Ph chromosome. Conventional chromosomal analysis performed on bone marrow aspirate samples showed 46, XY, t(1;9;22;16)(q21;q34;q11.2;q24). Nested RT-PCR of the BCR::ABL1 gene revealed a major BCR::ABL rearrangement. The treatment with nilotinib achieved a complete hematologic, cytogenetic, and molecular response after 12 months.
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页数：4
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