Acquired inv(9): what is its significance?
Acquired inv(9): what is its significance?
复制标题
DOI：
10.1016/j.cancergencyto.2004.12.002
复制
发表时间：
2005-07-01
影响因子：
--
通讯作者：
Cotter, PD
中科院分区：
文献类型：
--
作者：
Betz, JL;Behairy, AS;Cotter, PD
9号染色体异染色区的着丝粒倒位[inv(9)]在普通人群中是一种常见的异型性。它被推定为家族性，因为在构成核型中没有新的inv(9)染色体的报道。我们报告2例获得性inv(9)染色体，1例急性髓系白血病，46，XY，inv(9)(P11q13)[11]/46，XY[9]，另1例严重贫血，46，XX，inv(9)(P11q13)[14]/46，XX[6]。结构核型分析和/或分子分析证实了inv(9)的获得性。这些患者的inv(9)可能是一种从头开始的倒置，在细胞遗传学上模仿了结构性inv(9)的异形。或者，它可能是9q中新着丝粒激活的结果，这是由于这些患者中与疾病相关的表观遗传事件，导致了类似于构成inv的中着丝粒染色体(9)。先前的一份获得性INV报告(9)发生在一名患有原发性血小板增多症的患者身上。临床表现的差异可能代表了产生inv的不同潜在机制(9)。获得的inv(9)的重要性尚不清楚，需要报告更多的病例。(C)2005 Elsevier Inc.保留所有权利。
Pericentric inversion of the heterochromatic region of chromosome 9 [inv(9)] is a common heteromorphism in the general population. It is presumed familial as there are no reports of de novo inv(9) chromosomes in constitutional karyotypes. We report 2 cases of acquired inv(9) chromosomes; 1 patient with acute myeloid leukemia, 46,XY,inv(9)(p11q13)[11]/46,XY[9], and a second with severe anemia, 46,XX,inv(9)(p11q13)[14]/46,XX[6]. The acquired nature of the inv(9) was confirmed by constitutional karyotyping and/or molecular analysis. The inv(9) in these patients may be a de novo inversion that cytogenetically mimics the constitutional inv(9) heteromorphism. Alternatively, it may be the result of neocentromere activation in 9q due to epigenetic events associated with the disease in these patients that results in a metacentric chromosome similarly mimicking the constitutional inv(9). One previous report of an acquired inv(9) was in a patient with essential thrombocythemia. The differences in clinical presentation may represent different underlying mechanisms generating the inv(9). The significance of an acquired inv(9) is unknown and will require reporting of additional cases. (c) 2005 Elsevier Inc. All rights reserved.