Hodkinson Katherine E, Bouwer Nikki, Vaughan Jenifer
Department of Molecular Medicine and Haematology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Institution of National Health Laboratory Service, Johannesburg, South Africa.
Afr J Lab Med. 2022 May 31;11(1):1578. doi: 10.4102/ajlm.v11i1.1578. eCollection 2022.
Chronic myeloid leukaemia (CML) is a haematological malignancy characterised by the translocation t(9;22)(q34;q11.2), resulting in a constitutively active tyrosine kinase. Globally, overall survival of blast crisis phase (BC) CML is one year. Newer tyrosine kinase inhibitors and allogeneic stem cell transplantation offer remission; however, refractory and relapsed disease remain the biggest challenges.
In South Africa, literature is lacking on BC-CML. This study aimed to determine the disease characteristics and overall survival in South Africa.
This retrospective, laboratory-based study reviewed all new BC-CML diagnoses via flow cytometry at Charlotte Maxeke Johannesburg Academic Hospital in Johannesburg, South Africa, between April 2016 and October 2019. BC-CML was defined as the presence of > 20% blasts with a CML history or the fusion gene (p210/p190) in the appropriate clinical or pathological context. Survival outcomes were inferred from clinical and laboratory data.
Twenty-two new cases of BC-CML were diagnosed (median age: 34 years). There were 20 (91%) cases with the fusion transcripts p210 and two (9%) cases with p190 For blast lineage, 14 cases were myeloid (63.6%), six were lymphoid (27.3%), and two were ambiguous (9.1%). There was a 72.7% mortality (16 cases); sepsis, refractory and relapsed disease were the major causes. Patients who achieved remission had lower blast percentages, simple karyotypes, and a trend towards higher white cell and platelet counts at presentation.
Optimised management of early-stage CML, prevention and aggressive management of sepsis, with advocation for newer therapies are needed to improve the overall survival of BC-CML in South Africa.
慢性髓性白血病（CML）是一种血液系统恶性肿瘤，其特征为t(9;22)(q34;q11.2)易位，导致组成型活性酪氨酸激酶产生。在全球范围内，急变期（BC）CML的总生存期为一年。新型酪氨酸激酶抑制剂和异基因干细胞移植可实现缓解；然而，难治性和复发性疾病仍然是最大的挑战。
在南非，关于BC-CML的文献匮乏。本研究旨在确定南非BC-CML的疾病特征和总生存期。
这项基于实验室的回顾性研究，对2016年4月至2019年10月期间在南非约翰内斯堡夏洛特·马克西克约翰内斯堡学术医院通过流式细胞术诊断的所有新的BC-CML病例进行了回顾。BC-CML的定义为：在有CML病史的情况下，原始细胞>20%，或在适当的临床或病理背景下存在融合基因（p210/p190）。生存结果由临床和实验室数据推断得出。
共诊断出22例新的BC-CML病例（中位年龄：34岁）。其中20例（91%）为p210融合转录本，2例（9%）为p190。对于原始细胞谱系，14例为髓系（63.6%），6例为淋系（27.3%），2例不明确（9.1%）。死亡率为72.7%（16例）；败血症、难治性和复发性疾病是主要原因。达到缓解的患者原始细胞百分比更低，核型简单，就诊时白细胞和血小板计数有升高趋势。
需要对早期CML进行优化管理，预防和积极治疗败血症，并提倡采用更新的疗法，以提高南非BC-CML的总生存期。
