一名急性早幼粒细胞白血病患者中掩盖了变异型t(15;17)(q22;q21)的t(17;20)(q21;q12) 。
A t(17;20)(q21;q12) masking a variant t(15;17)(q22;q21) in a patient with acute promyelocytic leukemia.
作者信息
García-Casado Zaida, Cervera José, Valencia Ana, Pajuelo Juan C, Mena-Duran Armando V, Barragán Eva, Bolufer Pascual, Sanz Miguel A
机构信息
Department of Hematology, Hospital Universitario La Fe, Avenida Campanar, 21, 46009 Valencia, Spain.
出版信息
Cancer Genet Cytogenet. 2006 Jul 1;168(1):73-6. doi: 10.1016/j.cancergencyto.2005.12.014.
Acute promyelocytic leukemia (APL) is genetically characterized by a reciprocal translocation between chromosomes 15 and 17, the t(15;17)(q22;q21), which results in the fusion gene PML/RARA. A small proportion of patients with APL have complex or simple variants of this translocation. We report the case of a 31-year-old woman with APL (FAB-M3 classical form) carrying an apparently balanced translocation t(17;20)(q21;q12) masking a t(15;17)(q22;q21) confirmed by fluorescence in situ hybridization (FISH) and molecular studies. The patient was treated with an all-trans-retinoic acid (ATRA) plus anthracycline-based protocol and achieved complete remission, with no recurrence to date. These results illustrate the usefulness of combining cytogenetics, FISH, and reverse transcription-polymerase chain reaction (RT-PCR) methods to evidence the PML/RARA fusion gene in cases with morphologic suspicion of APL with variant or cryptic t(15;17).
急性早幼粒细胞白血病（APL）的遗传学特征是15号和17号染色体之间的相互易位，即t(15;17)(q22;q21)，这导致了融合基因PML/RARA的产生。一小部分APL患者存在这种易位的复杂或简单变体。我们报告了一例31岁的APL女性患者（FAB-M3经典型），其携带一种看似平衡的易位t(17;20)(q21;q12)，掩盖了通过荧光原位杂交（FISH）和分子研究证实的t(15;17)(q22;q21)。该患者接受了全反式维甲酸（ATRA）联合蒽环类药物方案治疗并实现了完全缓解，至今未复发。这些结果说明了结合细胞遗传学、FISH和逆转录聚合酶链反应（RT-PCR）方法，在形态学上怀疑为具有变体或隐匿性t(15;17)的APL病例中检测PML/RARA融合基因的有用性。
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