Zhang Wenzhi, Dun Jianxin, Li Hui, Liu Jingzhen, Chen Hongbo, Yu Hui, Xu Jiawei, Zhou Fen, Qiu Yining, Hao Jinjin, Hu Qun, Wu Xiaoyan
Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.
Hematology. 2023 Dec;28(1):2231731. doi: 10.1080/16078454.2023.2231731. Epub 2023 Jul 31.
Acute megakaryoblastic leukemia (AMKL) without Down syndrome (non-DS-AMKL) usually a worse outcome than DS-AMKL. Acquired trisomy 21(+21) was one of the most common cytogenetic abnormalities in non-DS-AMKL. Knowledge of the difference in the clinical characteristics and prognosis between non-DS-AMKL with +21 and those without +21 is limited.
Verify the clinical characteristics and prognosis of non-DS-AMKL with +21.
We retrospectively analyzed 33 non-DS-AMKL pediatric patients and 118 other types of AML, along with their clinical manifestations, laboratory data, and treatment response.
Compared with AMKL without +21, AMKL with +21 has a lower platelet count (44.04 ± 5.01G/L) at onset (> 0.05). Differences in remission rates between AMKL and other types of AML were not significant. Acquired trisomy 8 in AMKL was negatively correlated with the long-term OS rate (< 0.05), while +21 may not be an impact factor. Compared with the other types of AML, AMKL has a younger onset age (< 0.05), with a mean of 22.27 months. Anemia, hemorrhage, lymph node enlargement, lower white blood cell, and complex karyotype were more common in AMKL (< 0.05). AMKL has a longer time interval between onset to diagnosis (53.61 ± 71.15 days) (< 0.05), and patients with a diagnosis delay ≥3 months always presented as thrombocytopenia or pancytopenia initially.
Due to high heterogeneity, high misdiagnosis rate, and myelofibrosis, parts of AMKL may take a long time to be diagnosed, requiring repeated bone marrow punctures. Complex karyotype was common in AMKL. +21 may not be a promising indicator of a poor prognosis.
非唐氏综合征急性巨核细胞白血病（non-DS-AMKL）的预后通常比唐氏综合征急性巨核细胞白血病（DS-AMKL）更差。获得性21三体（+21）是non-DS-AMKL最常见的细胞遗传学异常之一。关于伴有+21的non-DS-AMKL与不伴有+21的non-DS-AMKL在临床特征和预后方面差异的了解有限。
验证伴有+21的non-DS-AMKL的临床特征和预后。
我们回顾性分析了33例非DS-AMKL儿科患者和118例其他类型的急性髓系白血病（AML）患者，以及他们的临床表现、实验室数据和治疗反应。
与不伴有+21的AMKL相比，伴有+21的AMKL发病时血小板计数较低（44.04±5.01G/L）（>0.05）。AMKL与其他类型AML的缓解率差异不显著。AMKL中获得性8三体与长期总生存率呈负相关（<0.05），而+21可能不是影响因素。与其他类型AML相比，AMKL发病年龄更小（<0.05），平均为22.27个月。贫血、出血、淋巴结肿大、白细胞降低和复杂核型在AMKL中更常见（<0.05）。AMKL从发病到诊断的时间间隔更长（53.61±71.15天）（<0.05），诊断延迟≥3个月的患者最初常表现为血小板减少或全血细胞减少。
由于高度异质性、高误诊率和骨髓纤维化，部分AMKL可能需要很长时间才能确诊，需要反复进行骨髓穿刺。复杂核型在AMKL中很常见。+21可能不是预后不良的有力指标。
