Cryptic insertion of PML-RARA into the 3p25 locus in an acute promyelocytic leukemia with t(3;17)(p25;q21).
Cryptic insertion of PML-RARA into the 3p25 locus in an acute promyelocytic leukemia with t(3;17)(p25;q21).
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PML-RARA 隐性插入急性早幼粒细胞白血病 t(3;17)(p25;q21) 的 3p25 位点。
DOI：
10.1016/j.cancergencyto.2010.05.001
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发表时间：
2010
影响因子：
--
通讯作者：
Redner,RobertL
中科院分区：
文献类型：
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作者：
Chattopadhyay,Anuja;Redner,RobertL
我们曾报告一例72岁男性急性早幼粒细胞白血病，核型为47 XYt（3;17）（p25;q21），+8。荧光原位杂交未能显示PML基因座的重排，但证实了维甲酸受体α（RARA）重新定位于3号染色体。我们进行了一个改进的锅柄PCR分析，以调查未知的5′合作伙伴。我们的分析表明，融合伙伴是PML。因此，这种核型导致插入3 p25基因座的隐蔽PML-RARA融合。我们的病例强调了对看似新的核型异常进行分子分析的必要性。
We previously reported a case of a 72 year old man with acute promyelocytic leukemia with karyotype 47XYt(3;17)(p25;q21), +8. Fluorescent in-situ hybridization failed to show rearrangement of the PML locus but did demonstrate relocalization of the retinoic acid receptor alpha (RARA) to chromosome 3. We performed a modified panhandle PCR 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 abnromalities.