The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the d...The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.展开更多
Rearrangements involving chromosome region at 12p13 are common abnormalities in hematological malignancies,including myeloid and lymphoid types. ETV6 gene is usually involved in the 12p13 region. ETV6 rearrangements a...Rearrangements involving chromosome region at 12p13 are common abnormalities in hematological malignancies,including myeloid and lymphoid types. ETV6 gene is usually involved in the 12p13 region. ETV6 rearrangements are more often observed in acute lymphoblastic leukemia than in acute myeloid leukemia (AML),where ETV6 gene deletions are more common than rearrangements. Here,we report an AML case with the recurrent t(10;12)(q24;p13) as the sole abnormality. Fluore-scence in situ hybridization with mapping back to metaphases confirmed that the ETV6 gene splits,and rearranges with a locus at 10q24. In review of the literature,this is the first report of AML case with the novel abnormality as the sole change. Complete laboratory findings from bone marrow examination,flow cytometry analysis,cytogenetic studies,molecular analysis,and clinical features are also described in the report.展开更多
文摘The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.
文摘Rearrangements involving chromosome region at 12p13 are common abnormalities in hematological malignancies,including myeloid and lymphoid types. ETV6 gene is usually involved in the 12p13 region. ETV6 rearrangements are more often observed in acute lymphoblastic leukemia than in acute myeloid leukemia (AML),where ETV6 gene deletions are more common than rearrangements. Here,we report an AML case with the recurrent t(10;12)(q24;p13) as the sole abnormality. Fluore-scence in situ hybridization with mapping back to metaphases confirmed that the ETV6 gene splits,and rearranges with a locus at 10q24. In review of the literature,this is the first report of AML case with the novel abnormality as the sole change. Complete laboratory findings from bone marrow examination,flow cytometry analysis,cytogenetic studies,molecular analysis,and clinical features are also described in the report.
