Knottenbelt E, Hallett J, Jacobs P
University of Cape Town Leukaemia Centre, Observatory, South Africa.
Am J Hematol. 1989 Apr;30(4):233-5. doi: 10.1002/ajh.2830300408.
A case is presented of a 73-year-old woman who received busulphan for essential thrombocythemia and subsequently developed a myelodysplastic syndrome (MDS), which transformed to acute nonlymphoblastic leukaemia within 1 month. Cytogenetic studies showed a 46,XX,t(8;21) (q22;q22) karyotype in all metaphases examined at diagnosis. The karyotypic abnormality is previously unreported in secondary myelodysplasia and may have specific clinical implications in this setting, such as early transformation to acute leukaemia and short survival. This finding contrasts with the generally favourable prognosis of the 8;21 translocation in patients with de novo acute nonlymphoblastic leukemia. A possible explanation for this difference may be the involvement of a committed progenitor in acute nonlymphoblastic leukaemia, while in myelodysplasia the more primitive multipotent stem cell may be affected.
本文报告了一例73岁女性患者，她因原发性血小板增多症接受白消安治疗，随后发展为骨髓增生异常综合征（MDS），并在1个月内转变为急性非淋巴细胞白血病。细胞遗传学研究显示，诊断时所检查的所有中期分裂相中核型均为46,XX,t(8;21) (q22;q22)。这种核型异常在继发性骨髓增生异常中以前未被报道，在这种情况下可能具有特定的临床意义，如早期转变为急性白血病和生存期短。这一发现与原发性急性非淋巴细胞白血病患者中8;21易位通常良好的预后形成对比。这种差异的一个可能解释可能是急性非淋巴细胞白血病中定向祖细胞受累，而在骨髓增生异常中更原始的多能干细胞可能受到影响。
