成人 T 细胞白血病/淋巴瘤 (ATLL) 是一种由人类 T 细胞嗜淋巴细胞病毒 1 型 (HTLV-1) 引起的侵袭性成熟 T 细胞肿瘤。最常见的免疫表型是 CD4 /CD7-/CD25 ，但也可能出现不寻常的免疫表型并可能导致误诊。大型三级研究机构对 131 例 ATLL 患者的免疫表型、细胞遗传学、分子特征、临床表现、治疗和预后进行了回顾性研究。美国医疗中心所有病例均显示CD7表达缺失。虽然 82.4% 的病例表现出 CD4，但 17.6% 的病例表现出不寻常的表型，包括 CD4 /CD8 (6.9%)、CD4-/CD8- (2.3%)、CD5- (3.1%)、CD2- 和 CD3-。最常见的细胞遗传学异常包括多体性 3 (34.6%)、易位 1 (23.1%) 以及 11 号染色体 (30.8%) 和 14 号染色体 (26.9%) 上发现的异常。新一代测序研究发现的常见基因突变为TP53（16.7%）、TBL1XR1（16.7%）、EP300（14.3%）和NOTCH1（14.3%）。 TBL1XR1 突变与遗传不稳定性有关。这两组的临床表现之间没有显着差异。成人T细胞白血病/淋巴瘤表现出多种免疫表型、细胞遗传学和分子特征。来自流行地区的患者同时累及血液、淋巴结和其他器官，并伴有高钙血症，因此需要进行 HTLV-1 检测，以避免对这种令人沮丧的疾病诊断不足，这种疾病可能需要积极化疗，然后进行骨髓移植。© 作者（ s) 2024 年。由牛津大学出版社代表美国临床病理学会出版。版权所有。如需商业重复使用，请联系 reprints@oup.com 获取转载和转载的翻译权。所有其他权限都可以通过我们网站文章页面上的权限链接通过我们的 RightsLink 服务获得 - 如需了解更多信息，请联系journals.permissions@oup.com。

Adult T-cell leukemia/lymphoma (ATLL) is an aggressive mature T-cell neoplasm caused by human T-cell lymphotropic virus type 1 (HTLV-1). Its most common immunophenotype is CD4+/CD7-/CD25+, although unusual immunophenotypes can occur and may lead to misdiagnosis.The immunophenotypes, cytogenetics, molecular features, clinical presentations, treatment, and prognosis of 131 patients with ATLL were retrospectively studied in a large tertiary medical center in the United States.All cases showed loss of CD7 expression. While 82.4% of cases demonstrated CD4+, 17.6% exhibited unusual phenotypes, including CD4+/CD8+ (6.9%), CD4-/CD8- (2.3%), CD5- (3.1%), CD2-, and CD3-. The most common cytogenetics abnormalities included polysomy 3 (34.6%), translocation 1 (23.1%), and abnormalities found on chromosome 11 (30.8%) and chromosome 14 (26.9%). The common gene mutations identified by the next-generation sequencing study were TP53 (16.7%), TBL1XR1 (16.7%), EP300 (14.3%), and NOTCH1 (14.3%). TBL1XR1 mutation is associated with genetic instabilities. There was no significant difference between the clinical presentations of these 2 groups.Adult T-cell leukemia/lymphoma exhibits versatile immunophenotypic, cytogenetic, and molecular features. Simultaneous involvement of blood, lymph nodes, and other organs, along with hypercalcemia in a patient from an endemic area, necessitates HTLV-1 testing to avoid underdiagnosis of this dismal disease that might need aggressive chemotherapy followed by bone marrow transplant.© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site—for further information please contact journals.permissions@oup.com.