Shah Nishi, Suchanek Melissa, Thakkar Astha, Patel Riya Jayesh, Rahman Shafia, Acuna-Villaorduna Ana, Shah Urvi, Adrianzen Herrera Diego, Slasky Shira, Gritsman Kira, Goldfinger Mendel, Shastri Aditi, Mantzaris Ioannis, Kornblum Noah, Bachier-Rodriguez Lizamarie, Feldman Eric, Cooper Dennis, McNeill Katharine Anne, Wang Yanhua, Shi Yang, Verma Amit, Ye B Hilda, Janakiram Murali, Sica R Alejandro
Department of Oncology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY.
Winship Cancer Institute of Emory University, Atlanta, GA.
JCO Precis Oncol. 2025 Jul;9:e2300526. doi: 10.1200/PO.23.00526. Epub 2025 Jul 25.
CNS involvement in North American adult T-cell leukemia/lymphoma (NA-ATLL) remains poorly understood. This study examined the CNS involvement in patients with ATLL treated at a tertiary hospital in New York City.
CNS involvement was defined by positive cerebrospinal fluid (CSF) cytology, flow cytometry, positive CNS imaging, or neurological examination findings.
Among 94 patients with NA-ATLL, 21 (22.3%) had CNS involvement. CSF was involved in 13 patients at diagnosis and five at relapse. Magnetic resonance imaging detected brain and spinal involvement in 24% and 14% of the patients, respectively. Results of neurological examinations were abnormal in 33% and 14% of the patients at diagnosis and relapse, respectively. The mutation was found in two patients with extensive, treatment-refractory CNS disease, with a median overall survival (OS) of 2 months. Other mutations, including and , were noted in two patients. The median OS was 8.5 months, and the median relapse-free survival (RFS) was 6.5 months in our series. In most cases (5/21), the lymphomatous phenotype appeared to have a direct mass-like extension, whereas in patients with predominant blood involvement tended to spread to the CSF by traversing the blood-brain barrier.
In this report, we describe the patterns of CNS involvement in ATLL and their association with mutations. We also describe two rapidly fatal cases with the mutation, which may represent a novel therapeutic target for T-cell lymphomas.
中枢神经系统（CNS）受累在北美成人T细胞白血病/淋巴瘤（NA-ATLL）中的情况仍知之甚少。本研究调查了在纽约市一家三级医院接受治疗的ATLL患者的CNS受累情况。
CNS受累通过脑脊液（CSF）细胞学检查、流式细胞术、CNS影像学检查阳性或神经系统检查结果来定义。
在94例NA-ATLL患者中，21例（22.3%）出现CNS受累。诊断时13例患者的CSF受累，复发时5例受累。磁共振成像分别在24%和14%的患者中检测到脑部和脊髓受累。神经系统检查结果在诊断时和复发时分别有33%和14%的患者异常。在两名患有广泛的、治疗难治性CNS疾病的患者中发现了 突变，其总生存期（OS）中位数为2个月。在两名患者中发现了其他突变，包括 和 。在我们的系列研究中，OS中位数为8.5个月，无复发生存期（RFS）中位数为6.5个月。在大多数病例（5/21）中，淋巴瘤表型似乎有直接的肿块样扩展，而主要血液受累的患者倾向于通过血脑屏障扩散到CSF。
在本报告中，我们描述了ATLL中CNS受累的模式及其与突变的关联。我们还描述了两例具有 突变的快速致命病例，这可能代表了T细胞淋巴瘤的一个新的治疗靶点。
