Cao Y, Yuan R, Wang Y, Chen R, Huang M, Zhou J
Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China.
Cytogenet Genome Res. 2013;141(1):70-4. doi: 10.1159/000350871. Epub 2013 May 4.
The translocation t(15;17), which results in the PML-RARα fusion gene, is a characteristic chromosomal translocation in acute promyelocytic leukemia (APL). But additional chromosome aberrations in APL are increasingly recognized. Here, we report on a 16-year-old APL patient who had an fms-related tyrosine kinase 3-internal tandem duplication (FLT3-ITD) and a 46,XY,t(15;17)(q22;q21)-16+mar karyotype at diagnosis. The patient achieved complete remission after induction therapy with all-trans retinoic acid and chemotherapy. But he soon relapsed presenting distinctive APL features in the bone marrow and leptomeninges and showing a chromosome translocation change involving chromosomes 7 and 16 besides t(15;17)(q22;q21). The new karyotype 46,XY,t(7;16)(q31;q22),t(15;17)(q22;q21) was determined. To the best of our knowledge, this is the first report of a de novo APL with a chromosome translocation t(7;16)(q31,q22) together with a t(15;17)(q22;q21) and FLT3-ITD mutation.
导致PML-RARα融合基因的t(15;17)易位是急性早幼粒细胞白血病（APL）的特征性染色体易位。但APL中其他染色体畸变也日益受到关注。在此，我们报告一名16岁的APL患者，其诊断时存在fms相关酪氨酸激酶3内部串联重复（FLT3-ITD）以及核型为46,XY,t(15;17)(q22;q21)-16+mar。该患者在接受全反式维甲酸和化疗诱导治疗后达到完全缓解。但他很快复发，在骨髓和软脑膜中呈现出独特的APL特征，并且除了t(15;17)(q22;q21)外，还出现了涉及7号和16号染色体的染色体易位变化。确定了新的核型为46,XY,t(7;16)(q31;q22),t(15;17)(q22;q21)。据我们所知，这是首例伴有染色体易位t(7;16)(q31,q22)以及t(15;17)(q22;q21)和FLT3-ITD突变的初发APL报告。
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