Greenfield Graeme, McMullan Ross, Robson Nuala, McGimpsey Julie, Catherwood Mark, McMullin Mary Frances
1Centre for Cancer Research and Cell Biology, Queen's University Belfast, 97 Lisburn Rd, Belfast, BT9 7NN UK.
2Department of Haematology, Belfast City Hospital, Belfast, UK.
BMC Hematol. 2019 May 2;19:7. doi: 10.1186/s12878-019-0139-2. eCollection 2019.
The fusion gene underlying the pathogenesis of CML can arise from a variety of breakpoints. The e13a2 and e14a2 transcripts formed by breakpoints occurring around exon 13 and exon 14 of the gene respectively are the most common.
We undertook a retrospective audit using local laboratory database and electronic patient care records of 69 CML patients with an e13a2 or e14a2 transcript type identified in our regional population.
The e13a2 group was on average significantly younger (45.0 years v 54.5 years), had a higher average white cell count (189.8 × 10/l v 92.40 × 10/l) and lower platelet count (308 × 10/l v 644 × 10/l) in comparison to the e14a2 group suggesting that these are distinct biological entities. Over an average follow-up of 33.8 months and 27.2 months for the e13a2 and e14a2 groups we observed an inferior molecular response to imatinib in the e13a2 group. A significantly lower number of patients in the e13a2 arm met European Leukemia Net criteria for optimal response at 12 months therapy (17.64% v 50.0%) and were slower to obtain deep molecular responses MR or MR.
Patients with an e13a2 transcript demonstrate an inferior molecular response to imatinib in our regional population.
慢性粒细胞白血病（CML）发病机制中的融合基因可源自多种断点。分别由该基因外显子13和外显子14周围发生的断点形成的e13a2和e14a2转录本最为常见。
我们利用本地实验室数据库和电子患者护理记录，对在我们地区人群中识别出的69例具有e13a2或e14a2转录本类型的CML患者进行了回顾性审计。
与e14a2组相比，e13a2组平均年龄显著更小（45.0岁对54.5岁），平均白细胞计数更高（189.8×10⁹/L对92.40×10⁹/L），血小板计数更低（308×10⁹/L对644×10⁹/L），这表明它们是不同的生物学实体。在e13a2组和e14a2组分别平均随访33.8个月和27.2个月期间，我们观察到e13a2组对伊马替尼的分子反应较差。在e13a2组中，达到欧洲白血病网12个月治疗最佳反应标准的患者数量显著更少（17.64%对50.0%），且获得深度分子反应（MR³或MR⁴）的速度较慢。
在我们的地区人群中，具有e13a2转录本的患者对伊马替尼的分子反应较差。
