Noorafrooz Mohammadamin, Ghods Sanaz, Gale Robert Peter, Noorafrooz Ramin
Vali-E-Asr Reproductive Health Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Vali-E-Asr Reproductive Health Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
Clin Lymphoma Myeloma Leuk. 2025 Apr;25(4):249-253. doi: 10.1016/j.clml.2024.11.007. Epub 2024 Dec 5.
:ABL1-negative myelo-proliferative neoplasms (MPNs) are characterized by mutations in JAK2, CALR, or MPL. Usually these mutations are co-exclusive of each other and of BCR::ABL1. We reviewed clonal interactions in 177 subjects with mutations in JAK2, CALR, or MPL and BCR::ABL1 including JAK2/BCR::ABL1 (N = 142), CALR/BCR::ABL1 (N = 31), MPL/BCR::ABL1 (N = 3). Co-mutations can arise in the same clone or in different sub-clones. In this review we used clonality data, mutation sequencing and therapy response evaluation to address this question. We found that in subjects with JAK2/BCR::ABL1 co-mutations there is a complex, branched clonal evolution. In contrast, in subjects with CALR/BCR::ABL1, co-mutations are in different sub-clones. There are too few data in subjects with MPL/BCR::ABL1 to critically analyze. However, indirect methods for assessing clonality limit our conclusions. Understanding clonal architecture of MPNs with co-mutations is needed to understand the underlying biology and give appropriate therapy.
:ABL1 阴性骨髓增殖性肿瘤（MPNs）的特征是 JAK2、CALR 或 MPL 发生突变。通常这些突变相互之间以及与 BCR::ABL1 相互排斥。我们回顾了 177 例 JAK2、CALR 或 MPL 以及 BCR::ABL1 发生突变的患者的克隆相互作用，包括 JAK2/BCR::ABL1（N = 142）、CALR/BCR::ABL1（N = 31）、MPL/BCR::ABL1（N = 3）。共突变可出现在同一克隆或不同亚克隆中。在本综述中，我们使用克隆性数据、突变测序和治疗反应评估来解决这个问题。我们发现，在 JAK2/BCR::ABL1 共突变的患者中存在复杂的分支克隆进化。相比之下，在 CALR/BCR::ABL1 共突变的患者中，共突变存在于不同亚克隆中。MPL/BCR::ABL1 共突变患者的数据太少，无法进行严格分析。然而，评估克隆性的间接方法限制了我们的结论。需要了解具有共突变的 MPNs 的克隆结构，以理解其潜在生物学特性并提供适当的治疗。
