Kanagal-Shamanna Rashmi, Weinberg Olga K, Bueso-Ramos Carlos E
Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, United States.
Department of Hematopathology, The University of Texas Southwestern Medical Center, Dallas, TX, United States.
Am J Clin Pathol. 2025 Jul 11;164(1):76-84. doi: 10.1093/ajcp/aqaf035.
Recent molecular characterization of T‑lymphoblastic leukemia/lymphoma (T-ALL/LBL) has deepened our understanding of the pathogenesis and created a strong foundation for novel therapeutic strategies. Consequently, both the fifth edition of the World Health Organization and the International Consensus Classification systems for T-ALL/LBL have identified genomic subtypes, some as provisional entities. However, due to the challenges encountered in uncovering these alterations, molecular testing modalities and algorithms in clinical laboratory algorithms remain inconsistent or incomplete.
Cases from Session 8 of the 2023 Workshop of the Society for Hematopathology and the European Association for Haematopathology highlighted various T-ALL/LBL genetic subtypes and showcased phenotypic diversity even among individuals with identical genetic abnormalities.
The data underscored the presence of significant genetic heterogeneity in T-ALL/LBL, highlighting the diagnostic value of specific genomic features for accurate classification, differentiation between immature and mature T-lymphoid neoplasms, and detection of underlying germline predisposition disorders. Further, the range of available standard molecular testing methodologies, including ancillary immunohistochemical studies, was discussed.
A comprehensive standardized testing of genomic abnormalities will advance T-ALL/LBL characterization in future classification systems, as underscored by the cases submitted to Session 8 of SH2023. The genetic heterogeneity underscores the need for personalized therapies that target driver genomic abnormalities.
T淋巴细胞母细胞白血病/淋巴瘤（T-ALL/LBL）的最新分子特征加深了我们对其发病机制的理解，并为新的治疗策略奠定了坚实基础。因此，世界卫生组织第五版以及T-ALL/LBL的国际共识分类系统都确定了基因组亚型，其中一些为暂定实体。然而，由于在揭示这些改变时遇到挑战，临床实验室算法中的分子检测方法和算法仍然不一致或不完整。
血液病理学学会和欧洲血液病理学协会2023年研讨会第8场会议的病例突出了各种T-ALL/LBL基因亚型，甚至展示了具有相同基因异常的个体之间的表型多样性。
数据强调了T-ALL/LBL中存在显著的基因异质性，突出了特定基因组特征对于准确分类、区分未成熟和成熟T淋巴细胞肿瘤以及检测潜在种系易感性疾病的诊断价值。此外，还讨论了可用的标准分子检测方法范围，包括辅助免疫组织化学研究。
如提交给SH2023第8场会议的病例所强调的，对基因组异常进行全面标准化检测将推动未来分类系统中T-ALL/LBL的特征描述。基因异质性强调了针对驱动基因组异常的个性化治疗的必要性。
