在一例伴有t(3;17)(p25;q21)的急性早幼粒细胞白血病中，PML-RARA隐匿插入到3p25位点。
Cryptic insertion of PML-RARA into the 3p25 locus in an acute promyelocytic leukemia with t(3;17)(p25;q21).
作者信息
Chattopadhyay Anuja, Redner Robert L
机构信息
Department of Medicine, Division of Hematology/Oncology, University of Pittsburgh and UP Cancer Institute, 5117 Centre Ave., Pittsburgh, PA 15213, USA.
出版信息
Cancer Genet Cytogenet. 2010 Aug;201(1):28-31. doi: 10.1016/j.cancergencyto.2010.05.001.
We studied a case of a 72-year-old man with acute promyelocytic leukemia and a t(3;17)(p25;q21). Fluorescence in situ hybridization failed to show rearrangement of the PML (promyelocytic leukemia protein) locus but did demonstrate relocalization of the retinoic acid receptor alpha (RARA) to chromosome 3. We performed a modified panhandle polymerase chain reaction analysis to investigate the unknown 5' partner. Our analysis indicates that the fusion partner is PML. This karyotype therefore results in a cryptic PML-RARA fusion inserted into the 3p25 locus. Our case highlights the need for molecular analysis of seemingly novel karyotypic abnormalities.
我们研究了一例72岁患有急性早幼粒细胞白血病且核型为t(3;17)(p25;q21)的男性患者。荧光原位杂交未能显示早幼粒细胞白血病蛋白（PML）基因座的重排，但确实证实了维甲酸受体α（RARA）重新定位到了3号染色体上。我们进行了改良的锅柄式聚合酶链反应分析以研究未知的5'端伙伴基因。我们的分析表明融合伙伴是PML。因此，这种核型导致了一个隐匿的PML-RARA融合基因插入到3p25基因座。我们的病例突出了对看似新颖的核型异常进行分子分析的必要性。
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