Owojuyigbe Temilola O, Durosinmi Muheez A, Bolarinwa Ramoni A A, Salawu Lateef, Akinola Norah O, Ademosun Abdulwaheed A, Bosede Oluwayomi T
Department of Haematology and Blood Transfusion, Obafemi Awolowo University Teaching Hospitals Complex (OAUTHC), Ile-Ife, Nigeria.
Indian J Hematol Blood Transfus. 2020 Oct;36(4):646-651. doi: 10.1007/s12288-020-01264-1. Epub 2020 Feb 25.
The distribution of transcript variants e13a2 ("b2a2") and e14a2 ("b3a2") in Nigerians with chronic myeloid leukemia (CML) had not been previously studied. In addition, there is paucity of data on the impact of transcript variants on clinical presentation and survival in CML patients in Nigeria. The transcript variants were analyzed in 230 Imatinib-treated CML patients at diagnosis. Patients with incomplete data (n = 28), e19a2 (n = 3) and e1a2 (n = 1) were excluded from analysis of transcript variant on disease presentation and survival leaving only 198. The frequencies of transcript variants were 30 (13.0%), 114 (49.6%), 82 (35.7%), three (1.3%) and one (0.4%) for e13a2, e14a2, co-expression of e13a2/e14a2, e19a2 and e1a2, respectively. A significantly higher platelet count was found in patients with e13a2 variant (531.1 ± 563.4 × 10/L) than in those expressing e14a2 (488.2 ± 560.3 × 10/L) or e13a2/e14a2 (320.7 ± 215.8 × 10/L); = 0.03. No significant differences were found between the variants with regards to gender, age, phase of disease at diagnosis, total white blood cell count, neutrophil percentage, hematocrit, splenomegaly or hepatomegaly. Overall survival was higher but not statistically significant ( = 0.4) in patients with e14a2 variant (134 months) than in e13a2 (119 months) and co-expression of e13a2/e14a2 (115 months). Nigerian CML patients have the highest incidence of co-expression of e13a2 and e14a2. Distinct disease characteristics which contrast with findings from the Western countries were also identified in Nigerians which may be due to genetic factors.
慢性髓性白血病（CML）患者中转录变体e13a2（“b2a2”）和e14a2（“b3a2”）在尼日利亚人中的分布此前尚未得到研究。此外，关于转录变体对尼日利亚CML患者临床表现和生存影响的数据也很匮乏。对230例接受伊马替尼治疗的CML患者在诊断时的转录变体进行了分析。数据不完整的患者（n = 28）、e19a2患者（n = 3）和e1a2患者（n = 1）被排除在疾病表现和生存的转录变体分析之外，仅留下198例。e13a2、e14a2、e13a2/e14a2共表达、e19a2和e1a2的转录变体频率分别为30（13.0%）、114（49.6%）、82（35.7%）、3（1.3%）和1（0.4%）。发现e13a2变体患者的血小板计数（531.1±563.4×10/L）显著高于表达e14a2的患者（488.2±560.3×10/L）或e13a2/e14a2的患者（320.7±215.8×10/L）；P = 0.03。在性别、年龄、诊断时疾病分期、总白细胞计数、中性粒细胞百分比、血细胞比容、脾肿大或肝肿大方面，各变体之间未发现显著差异。e14a2变体患者的总生存期（134个月）高于e13a2患者（119个月）和e13a2/e14a2共表达患者（115个月），但差异无统计学意义（P = 0.4）。尼日利亚CML患者中e13a2和e14a2共表达的发生率最高。在尼日利亚人中还发现了与西方国家研究结果不同的独特疾病特征，这可能是由于遗传因素所致。
