Tang Zhenya, Wang Wei, Yang Su, El Achi Hanadi, Fang Hong, Nahmod Karen Amelia, Toruner Gokce A, Xu Jie, Thakral Beenu, Ayoub Edward, Issa Ghayas C, Yin C Cameron, You M James, Miranda Roberto N, Khoury Joseph D, Medeiros L Jeffrey, Tang Guilin
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Cancers (Basel). 2023 Jan 11;15(2):458. doi: 10.3390/cancers15020458.
rearrangement () resulting from 3q26.2 aberrations is often associated with myeloid neoplasms and inferior prognosis in affected patients. Uncommonly, certain 3q26.2/ can be subtle/cryptic and consequently overlooked by karyotyping. We identified 17 acute myeloid leukemia (AML) patients (male/female: 13/4 with a median age of 67 years, range 42 to 85 years) with a pericentric inv(3) leading to with breakpoints at 3p23 (n = 11), 3p25 (n = 3), 3p21 (n = 2) and 3p13 (n = 1) on 3p and 3q26.2 on 3q. These pericentric inv(3)s were overlooked by karyotyping initially in 16 of 17 cases and later detected by metaphase FISH analysis. Similar to the patients with classic/paracentric inv(3)(q21q26.2), patients with pericentric inv(3) exhibited frequent cytopenia, morphological dysplasia (especially megakaryocytes), -7/del(7q), frequent (n = 6), (n = 5) and (n = 4) mutations and dismal outcomes (median overall survival: 14 months). However, patients with pericentric inv(3) more frequently had AML with thrombocytopenia (n = 15, 88%), relative monocytosis in peripheral blood (n = 15, 88%), decreased megakaryocytes (n = 11, 65%), and lower mutation. We conclude that AML with pericentric inv(3) shares some similarities with AML associated with classic/paracentric inv(3)/ but also shows certain unique features. Pericentric inv(3)s are often subtle/cryptic by chromosomal analysis. A reflex FISH analysis for is recommended in myeloid neoplasms showing -7/del(7q).
由3q26.2畸变导致的重排常与髓系肿瘤相关，且在受影响患者中预后较差。不常见的是，某些3q26.2异常可能很细微/隐匿，因此在核型分析中被忽视。我们识别出17例急性髓系白血病（AML）患者（男/女：13/4，中位年龄67岁，范围42至85岁），其发生了臂间倒位inv(3)，导致3p上的断点位于3p23（n = 11）、3p25（n = 3）、3p21（n = 2）和3p13（n = 1），3q上的断点位于3q26.2。这些臂间倒位inv(3)最初在17例中的16例被核型分析遗漏，后来通过中期荧光原位杂交（FISH）分析检测到。与经典/臂内倒位inv(3)(q21q26.2)的患者相似，臂间倒位inv(3)的患者常出现血细胞减少、形态学发育异常（尤其是巨核细胞）、-7/del(7q)、频繁的 （n = 6）、 （n = 5）和 （n = 4）突变以及预后不良（中位总生存期：14个月）。然而，臂间倒位inv(3)的患者更常患有血小板减少的AML（n = 15，88%）、外周血相对单核细胞增多（n = 15，88%）、巨核细胞减少（n = 11，65%）以及较低的 突变。我们得出结论，伴有臂间倒位inv(3)的AML与伴有经典/臂内倒位inv(3)的AML有一些相似之处，但也表现出某些独特特征。臂间倒位inv(3)通过染色体分析通常很细微/隐匿。对于显示-7/del(7q)的髓系肿瘤，建议进行 相关的FISH分析。
