Department of Hematology, Catholic Hematology Hospital and Leukemia Research Institute, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.
Eur J Haematol. 2023 Feb;110(2):137-148. doi: 10.1111/ejh.13883. Epub 2022 Oct 18.
Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is a recently identified high-risk subgroup of T-cell ALL in children. However, there have been conflicting reports and limited data have been reported in adult patients. We retrospectively analyzed the cytogenetic and molecular characteristics and long-term survival outcomes of adult patients with ETP-ALL versus non-ETP-ALL. We analyzed 58 patients (median age, 35 years [range, 18-76 years]) with newly diagnosed T-cell ALL who received a uniform remission induction and consolidation chemotherapy with suitable samples for genetic analyses. If a donor was available, all patients were recommended allogeneic hematopoietic cell transplantation (allo-HCT) for post-remission therapy. Out of 58 patients, 21 (36.2%) had ETP-ALL. Patients with ETP-ALL were older and had a higher proportion of complex karyotype than non-ETP-ALL. Additionally, more DNMT3A mutations were detected in ETP-ALL, whereas FBXW7 mutations and CDKN2A/CDKN2B deletions were found nearly exclusively in non-ETP-ALL. The overall complete remission (CR) rates were not different between ETP-ALL (95.2%) and non-ETP-ALL (81.1%) and subsequent allo-HCT proceeding rates in CR1 were 61.9% for ETP-ALL and 43.2% for non-ETP-ALL, respectively. The overall prognosis of patients with T-ALL was poor that estimated 5-year overall survival (OS) was 33.3% for ETP-ALL and 29.5% for non-ETP-ALL. In a subgroup analysis of patients treated with allo-HCT in CR1 (n = 29), 5-year OS was 53.8% for ETP-ALL and 55.4% for non-ETP-ALL. Our data showed molecular characteristics of ETP-ALL and non-ETP-ALL and revealed that intensive chemotherapy followed by allo-HCT for post-remission therapy can contribute to preserved survival outcome of adult patients with ETP-ALL.
早期 T 细胞前体细胞急性淋巴细胞白血病（ETP-ALL）是儿童 T 细胞 ALL 中最近确定的一种高风险亚组。然而，在成人患者中，已有相互矛盾的报道和有限的数据。我们回顾性分析了成人 ETP-ALL 与非 ETP-ALL 患者的细胞遗传学和分子特征以及长期生存结果。我们分析了 58 例（中位年龄 35 岁[范围 18-76 岁]）接受了统一缓解诱导和巩固化疗且有合适遗传分析样本的新诊断 T 细胞 ALL 患者。如果有供体，所有患者均建议进行异基因造血细胞移植（allo-HCT）作为缓解后治疗。在 58 例患者中，有 21 例（36.2%）患有 ETP-ALL。ETP-ALL 患者年龄较大，且复杂核型比例较高。此外，在 ETP-ALL 中检测到更多的 DNMT3A 突变，而 FBXW7 突变和 CDKN2A/CDKN2B 缺失几乎仅在非 ETP-ALL 中发现。ETP-ALL（95.2%）和非 ETP-ALL（81.1%）的总完全缓解（CR）率无差异，随后在 CR1 中进行 allo-HCT 的比例分别为 ETP-ALL 的 61.9%和非 ETP-ALL 的 43.2%。T-ALL 患者的总体预后较差，估计 ETP-ALL 的 5 年总生存率（OS）为 33.3%，非 ETP-ALL 为 29.5%。在 CR1 中接受 allo-HCT 治疗的患者亚组分析（n=29）中，ETP-ALL 的 5 年 OS 为 53.8%，非 ETP-ALL 为 55.4%。我们的数据显示了 ETP-ALL 和非 ETP-ALL 的分子特征，并表明缓解后强化化疗联合 allo-HCT 可有助于保留 ETP-ALL 成年患者的生存结果。
