Bohn Jan-Paul, Salcher Stefan, Pircher Andreas, Untergasser Gerold, Wolf Dominik
Department of Internal Medicine V, Hematology and Oncology, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Experimental Oncogenomic Group, Tyrolean Cancer Research Institute, 6020 Innsbruck, Austria.
Int J Mol Sci. 2021 Jul 21;22(15):7780. doi: 10.3390/ijms22157780.
Classic hairy cell leukemia (HCL) is a rare mature B-cell malignancy associated with pancytopenia and infectious complications due to progressive infiltration of the bone marrow and spleen. Despite tremendous therapeutic advances achieved with the implementation of purine analogues such as cladribine into clinical practice, the culprit biologic alterations driving this fascinating hematologic disease have long stayed concealed. Nearly 10 years ago, BRAF V600E was finally identified as a key activating mutation detectable in almost all HCL patients and throughout the entire course of the disease. However, additional oncogenic biologic features seem mandatory to enable HCL transformation, an open issue still under active investigation. This review summarizes the current understanding of key pathogenic mechanisms implicated in HCL and discusses major hurdles to overcome in the context of other BRAF-mutated malignancies.
经典型毛细胞白血病(HCL)是一种罕见的成熟B细胞恶性肿瘤,由于骨髓和脾脏的渐进性浸润,会导致全血细胞减少和感染性并发症。尽管将嘌呤类似物如克拉屈滨应用于临床实践取得了巨大的治疗进展,但驱动这种引人入胜的血液疾病的关键生物学改变长期以来一直未被发现。近10年前,BRAF V600E最终被确定为几乎所有HCL患者在疾病全过程中均可检测到的关键激活突变。然而,似乎还需要其他致癌生物学特征才能促使HCL发生转化,这仍是一个仍在积极研究中的悬而未决的问题。本综述总结了目前对HCL相关关键致病机制的理解,并讨论了在其他BRAF突变恶性肿瘤背景下需要克服的主要障碍。