https://orcid.org/0000-0002-7946-2843
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Ukuemi Edema, John Liu, Maxwell Y Ma, Kritika Krishnamurthy, Jui Choudhuri, Xing Li, Adwait Marhatta, Xiaohua Qi, Iris R Ma, Qing Wang, Aditi Shastri, Mendel Goldfinger, Kira Gritsman, R Alejandro Sica, Ioannis Mantzaris, Noah Kornblum, Marina Konopleva, Yanhua Wang, Yang Shi, Immunophenotypic, genetic, and clinical characterization of adult T-cell leukemia/lymphoma: A single tertiary care center experience in the United States, American Journal of Clinical Pathology, Volume 163, Issue 2, February 2025, Pages 205–214, https://doi.org/10.1093/ajcp/aqae111
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Abstract
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.
