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.

中文翻译：

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没有血液系统恶性肿瘤的血细胞减少患者的非克隆染色体改变和较差的存活率。

背景 克隆染色体改变 (CCAs) 反映了源自单个进化克隆的复发性遗传变化，而非克隆染色体改变 (NCCA) 包括单个或非复发性染色体异常。造血细胞中的 CCA 和 NCCA 已在没有血液系统恶性肿瘤的血细胞减少患者中进行了部分研究。方法 这项单中心回顾性研究包括 253 例在 2012 年至 2015 年间连续接受骨髓穿刺以确定血细胞减少原因的患者。排除血液系统恶性肿瘤患者。CCA被定义为在两个以上的细胞中检测到的染色体畸变，而NCCA被定义为在单个细胞中检测到的染色体畸变。结果患者的中位年龄为66岁。135 例无血液系统恶性肿瘤患者（中位年龄 64 岁；女性 69 例）；其中，27 名患者（中位年龄 69 岁；8 名女性）患有染色体异常。在 14 名患者中检测到 CCA；最常见的 CCA 是 8 名患者的 -Y，其次是 3 名患者的 inv.(9) 和 mar1+，inv。(12) 和 t (19;21) 各一名患者。在 13 名患者中检测到 NCCA；4 名患者中最常见的 NCCA 为 +Y，其次是 del (20), + 8, inv。(2)、- 8 和添加 (6) 各一名患者。此外，在三名患者中观察到非克隆易位异常，包括 t (9;14)、t (14;16) 和 t (13;21)。一名患者的单细胞核型复杂。其余 106 名核型正常的患者构成对照组（中位年龄，65 岁；范围，1-92 岁；56 名女性）。更远，