Hematology Departments of ICO-Hospital Germans Trias i Pujol, Josep Carreras Research Institute, Universitat Autònoma de Barcelona, Badalona, Spain.
ICO-Hospital Universitari Doctor Josep Trueta, Girona, Spain.
Eur J Haematol. 2020 Aug;105(2):138-147. doi: 10.1111/ejh.13417. Epub 2020 Jun 16.
Inv(3)(q21.3q26.2)/t(3;3)(q21.3;q26.2) is a rare poor prognosis cytogenetic abnormality present in acute myeloid leukemia (AML) and other myeloid neoplasms.
The aim of this study was to evaluate the outcome of a cohort of 61 patients with newly diagnosed AML with inv(3)/t(3;3) treated with homogeneous intensive chemotherapy protocols conducted by the Spanish PETHEMA and CETLAM cooperative groups between 1999 and 2017.
In this retrospective study the main clinical and biologic parameters were collected. The complete response (CR) rate, the cumulative incidence of relapse (CIR) and the overall survival (OS) were calculated. An analysis of prognostic factors for survival was performed.
Sixty-one patients received induction and only 18 (29%) achieved CR (median age, 46 years). Allogeneic hematopoietic stem cell transplantation (alloHSCT) was performed in 36 patients (59%), 15 with active disease. One- and 4-year CIR were 52% and 56%. One- and 4-year OS probabilities were 41% and 13%. By multivariate analysis monosomal karyotype (MK) was associated with poorer OS (HR 2.0, P = .017).
Inv(3)/t(3;3) AML is a poor prognosis entity with low response to standard chemotherapy and to alloHSCT because of frequent and early relapse. MK was associated with a poorer prognosis. Improved therapeutic strategies are clearly needed.
inv(3)(q21.3q26.2)/t(3;3)(q21.3;q26.2) 是一种罕见的预后不良的细胞遗传学异常，存在于急性髓系白血病（AML）和其他髓系肿瘤中。
本研究旨在评估西班牙 PETHEMA 和 CETLAM 合作组在 1999 年至 2017 年间进行的 61 例新诊断为 AML 并伴有 inv(3)/t(3;3)的患者采用同质强化化疗方案的治疗结果。
在这项回顾性研究中，收集了主要的临床和生物学参数。计算完全缓解（CR）率、累积复发率（CIR）和总生存率（OS）。对生存的预后因素进行了分析。
61 例患者接受了诱导治疗，只有 18 例（29%）达到了 CR（中位年龄为 46 岁）。36 例（59%）患者接受了异基因造血干细胞移植（alloHSCT），其中 15 例处于活动期。1 年和 4 年 CIR 分别为 52%和 56%。1 年和 4 年 OS 概率分别为 41%和 13%。多变量分析显示，单体核型（MK）与较差的 OS 相关（HR 2.0，P=0.017）。
inv(3)/t(3;3) AML 是一种预后不良的实体，对标准化疗和 alloHSCT 的反应率低，因为频繁且早期复发。MK 与较差的预后相关。显然需要改进治疗策略。
