Rivero Andrea, Mozas Pablo, Jiménez Laura, López-Guerra Mónica, Colomer Dolors, Bataller Alex, Correa Juan, Rivas-Delgado Alfredo, Bastidas Gabriela, Baumann Tycho, Martínez-Trillos Alejandra, Delgado Julio, Giné Eva, Campo Elías, López-Guillermo Armando, Villamor Neus, Magnano Laura, Matutes Estella
Department of Hematology, Hospital Clínic, 08036 Barcelona, Spain.
Hematopathology Unit, Department of Pathology, Hospital Clínic, 08036 Barcelona, Spain.
Cancers (Basel). 2021 Aug 2;13(15):3900. doi: 10.3390/cancers13153900.
T-cell large granular lymphocytic leukemia (T-LGLL) and chronic lymphoproliferative disorder of natural killer (NK) cells are two infrequent diseases characterized by clonal expansions of cytotoxic T lymphocytes and NK cells, respectively. Somatic mutations of are involved in the pathogenesis of these entities. We describe the clinicobiological features, mutational status of , treatment and outcome of 131 patients. Neutropenia was the most frequent finding at diagnosis, followed by anemia. Concurrent hematological disorders were diagnosed in 37% of patients and autoimmune conditions and solid tumors in 17% and 15%, respectively. All patients who needed treatment belonged to the CD8CD57 group. Remarkably, patients included in the CD4 group had a higher association with solid tumors ( = 0.037). mutations were found in 17% of patients, mainly Y640F and D661Y mutations. Patients carrying mutations more frequently presented with anemia, neutropenia, high LDH, high large granular lymphocyte counts and need for treatment ( = 0.0037). Methotrexate was the most frequently used agent (72% of cases). The overall response rate to all treatments was 50%. The 10-year overall survival of this series was 78%, with no differences according to the mutational status of . We compared the survival of these patients with the general Spanish population and no differences were found, confirming the indolent nature of these hematological malignancies. Our study further extends findings documented by others on the clinical behavior of the disease and the impact of , and for the first time analyzes survival compared to a matched general Spanish population.
T细胞大颗粒淋巴细胞白血病（T-LGLL）和自然杀伤（NK）细胞慢性淋巴细胞增殖性疾病是两种罕见疾病，分别以细胞毒性T淋巴细胞和NK细胞的克隆性扩增为特征。 的体细胞突变参与了这些疾病的发病机制。我们描述了131例患者的临床生物学特征、 的突变状态、治疗及预后。中性粒细胞减少是诊断时最常见的发现，其次是贫血。37%的患者同时诊断有血液系统疾病，17%和15%的患者分别有自身免疫性疾病和实体瘤。所有需要治疗的患者均属于CD8CD57组。值得注意的是，CD4组患者与实体瘤的关联性更高（ = 0.037）。17%的患者发现有 突变，主要是Y640F和D661Y突变。携带 突变的患者更常出现贫血、中性粒细胞减少、乳酸脱氢酶升高、大颗粒淋巴细胞计数升高及需要治疗（ = 0.0037）。甲氨蝶呤是最常用的药物（72%的病例）。所有治疗的总体缓解率为50%。该系列患者的10年总生存率为78%，根据 的突变状态无差异。我们将这些患者的生存率与西班牙普通人群进行比较，未发现差异，证实了这些血液系统恶性肿瘤的惰性本质。我们的研究进一步扩展了其他人记录的关于该疾病临床行为及 影响的发现，并且首次分析了与匹配的西班牙普通人群相比的生存率。
