Fan Hongxin, Ortega Veronica, Fanasch Hilal M, Wang Yao, Holder Kenneth N, Higgins Russell A, Mendiola Christina, Mohamed Gihan, Vadlamudi Kumari, Velagaleti Gopalrao
Department of Pathology, University of Texas Health Science Center at San Antonio, San Antonio, TX, USA.
Eur J Haematol. 2014 Oct;93(4):354-8. doi: 10.1111/ejh.12326. Epub 2014 Apr 26.
We describe a case of acute promyelocytic leukemia in a 61-yr-old woman with a cryptic insertion of RARA gene into PML gene. Using a combination of cytogenetic and molecular methods, we confirmed the insertion and presence of the PML-RARA transcript and lack of the reciprocal RARA-PML transcript. Although such cryptic insertions leading to a PML-RARA fusion have been previously reported, we show that such variant insertions, based on our case, appear to have the same prognostic significance as the classical t(15;17)(q22;q21).
我们描述了一例61岁女性急性早幼粒细胞白血病患者，其RARA基因隐匿插入到PML基因中。通过细胞遗传学和分子方法相结合，我们证实了该插入以及PML-RARA转录本的存在，且不存在相互的RARA-PML转录本。尽管此前已有导致PML-RARA融合的此类隐匿插入的报道，但基于我们的病例，我们发现这种变异插入似乎与经典的t(15;17)(q22;q21)具有相同的预后意义。
