A New Chromosome Translocation t(7;16)(q31,q22) Change during an Acute Promyelocytic Leukemia Relapse

作者：Cao Y; Yuan R; Wang Y; Chen R; Huang M^*; Zhou J

来源：Cytogenetic and Genome Research, 2013, 141(1): 70-74.

DOI：10.1159/000350871

• Acute promyelocytic leukemia
• Additional chromosomal abnormalities
• fms-related tyrosine kinase 3
• Relapse
• t(7
• 16)(q31,q22)

The translocation t(15;17), which results in the PML-RAR alpha 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.

• 出版日期2013
• 单位华中科技大学