小儿急性髓系白血病FLT3突变胚中杯状细胞核的临床和实验室结果:1例报告

Kimberly Fe Joibi, Salfarina Ibrahim, Nor Fadhilah Shafii, S. M. Jusoh, R. Mustaffa, M. F. Johan, W. Abdullah
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引用次数: 0

摘要

在生物学上,急性髓性白血病(AML)是高度异质性的。据报道,急性髓系白血病伴杯状胚形态变异在危险群体分层和治疗意义中具有重要作用。在儿童年龄组,这种形态及其临床意义很少被讨论。虽然世界卫生组织(WHO)的《造血和淋巴组织肿瘤分类》中没有说明这种形态变异,但它与其他特征相关,导致预后不良。本研究报告了一名10岁女孩被诊断患有AML,并伴有这种形态变异。她的实验室特征是白细胞增多,高d -二聚体,杯状细胞的细胞形态和少数模拟急性早幼粒细胞白血病(APML)的双叶特征。进一步的调查显示,临床和实验室特征与之前在成人中报道的相似,包括fms样酪氨酸激酶3 (FLT3)突变的不良标记物的存在。她接受了化疗,随后骨髓检查显示骨髓缓解。不幸的是,几个月后,她死于败血症和骨髓衰竭的疾病并发症。血液形态学家可能会考虑这种独特的形态识别,并将其与其他发现联系起来,包括分子测试,以进行适当的临床评估。细胞特征和血液学结果可以预测这类AML的临床行为并指导患者的治疗。这种形态变异起着重要的作用,特别是在世界上某些地区无法进行分子检测或在提交时结果尚未确定时。
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Clinical and Laboratory Findings of Cup-Like Nuclei in Blasts with FLT3 Mutation in Pediatric Acute Myeloid Leukemia: A Case Report
Biologically, Acute myeloid leukemia (AML) is highly heterogenous. AML with cup-like blast morphology variant has been reported to have important role in risk group stratification and treatment implications. In pediatric age group, this morphology and its clinical implication is rarely discussed. Although this morphology variant is not stated in World Health Organization (WHO) classification of Tumours of Haematopoietic and Lymphoid Tissues, it is associated with poor outcome from the association with other features. A 10- year old girl diagnosed to have AML with this morphology variant is reported in this study. Her laboratory features were hyperleucocytosis, high D-dimer, and blasts morphology of cup-like cells and few mimic the bilobed features of acute promyelocytic leukemia (APML). Further investigation showed clinical and laboratory features similar to what had been reported before in adults, including the presence of adverse marker of Fms-like tyrosine kinase 3 (FLT3) mutation. She was treated with chemotherapy, following which the bone marrow examination documented marrow in remission. Unfortunately, she succumbed to the disease complication from sepsis and marrow failure after few months of diagnosis. Haemato-morphologists might consider this unique morphological recognition and correlate it with other findings, including molecular testing for proper clinical evaluation. The blast feature and haematological findings could predict the clinical behaviour of this type of AML and guide the patient management. This morphological variant serves an important role especially if molecular testing is not available in some parts of the world or at the time of presentation when the result is still pending.
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CiteScore
0.80
自引率
33.30%
发文量
33
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