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Nonclonal chromosomal alterations and poor survival in cytopenic patients without hematological malignancies

机译：无血液恶性肿瘤患者的非基区染色体改变和患者存活差

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Background:Clonal chromosomal alterations (CCAs) reflect recurrent genetic changes derived from a single evolving clone, whereas nonclonal chromosomal alterations (NCCAs) comprise a single or nonrecurrent chromosomal abnormality. CCAs and NCCAs in hematopoietic cells have been partially investigated in cytopenic patients without hematological malignancies.Methods:This single-center retrospective study included 253 consecutive patients who underwent bone marrow aspiration to determine the cause of cytopenia between 2012 and 2015. Patients with hematological malignancies were excluded. CCA was defined as a chromosomal aberration detected in more than two cells, and NCCA was defined as a chromosomal aberration detected in a single cell.Results:The median age of the patients was 66?years. There were 135 patients without hematological malignancies (median age, 64?years; 69 females); of these, 27 patients (median age, 69?years; 8 females) harbored chromosomal abnormalities. CCAs were detected in 14 patients; the most common CCA was -Y in eight patients, followed by inv.(9) in three patients and mar1+, inv. (12), and t (19;21) in one patient each. NCCAs were detected in 13 patients; the most frequent NCCA was +Y in four patients, followed by del (20), +?8, inv. (2), -?8, and add (6) in one patient each. Moreover, nonclonal translocation abnormalities, including t (9;14), t (14;16), and t (13;21), were observed in three patients. One patient had a complex karyotype in a single cell. The remaining 106 patients with normal karyotypes comprised the control group (median age, 65?years; range, 1-92?years; 56 females). Further, follow-up analysis revealed that the overall survival of the NCCA group was worse than that of the CCA and the normal karyotype groups (P??0.0001; log-rank test).The survival of the NCCA-harboring cytopenic patients was worse than that of the CCA-harboring cytopenic patients without hematological malignancies, suggesting that follow-up should be considered for both CCA- and NCCA-harboring cytopenic patients.? The Author(s). 2019.
机译：背景：克隆染色体改变（CCAs）反映了衍生自单一演化克隆的复发性遗传变化，而非基因组染色体改变（NCCAs）包含单次或非逆转的染色体异常。在没有血液恶性肿瘤的细胞凋亡患者中，CCAS和NCCAs已经在没有血液恶性肿瘤中进行了部分研究了被排除在外。将CCA定义为在两个以上的细胞中检测到的染色体像差，并且NCCA被定义为在单个细胞中检测到的染色体像差。结果：患者的中位年龄为66岁。有135名没有血液恶性肿瘤的患者（中位年龄，64年？岁; 69名女性）;其中，27名患者（中位年龄，69岁以下，女性; 8女性）染色体异常。 14名患者中检测到CCA;最常见的CCA是八名患者，其次是INV。（9）在三名患者和Mar1 +，INV。 （12），每个患者中的T（19; 21）。在13名患者中检测到NCCAs;在四名患者中最常见的NCCA是+ Y，其次是Del（20），+？8，Inv。 （2）， - ？8，并在一个患者中添加（6）。此外，在三名患者中观察到非全国性易位异常，包括T（9; 14），T（14; 16）和T（13; 21）。一名患者在单个细胞中具有复杂的核型。剩余的106例正常核型患者组成了对照组（中位年龄，65岁以下;范围，1-92岁; 56名女性）。此外，随访分析显示，NCCA组的总存活率比CCA和正常核型组的总体存活率差（P？<？0.0001;对数级测试）。NCCA窝囊患者的存活是比CCA - 含CCTopencic患者的患者更糟糕，没有血液恶性肿瘤，表明CCA-和NCCA窝囊患者应考虑随访。作者。 2019年。

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