AJHE2502 - CME/CMLE - Immunophenotypic, genetic, and clinical characterization of adult T-cell leukemia/lymphoma: A single tertiary care center experience in the United States-AJHE2502

AJHE2502 - Educational Activity

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The article provides a comprehensive study on Adult T-cell leukemia/lymphoma (ATLL), a highly aggressive cancer linked to the human T-cell lymphotropic virus type 1 (HTLV-1). Most ATLL cases exhibit a distinct CD4/CD7–/CD25 immunophenotype, though some unusual phenotypes account for 17.6% of cases. The study involved 131 patients from a large tertiary center in the U.S., analyzing immunophenotypic, cytogenetic, and molecular features.<br /><br />Key findings include the loss of CD7 expression in all cases, with 82.4% showing the usual phenotype and a minority exhibiting variations such as CD4/CD8 or CD5–. Cytogenetic analysis revealed complex abnormalities like polysomy 3 and chromosome translocations. Frequent mutations involved TP53, TBL1XR1, EP300, and NOTCH1 genes, with TBL1XR1 mutations suggesting genetic instability.<br /><br />For diagnosis, flow cytometry and immunohistochemical studies were used, with CD4 positive, CD7 and CD8 negative being common. The study emphasizes distinguishing ATLL from similar diseases through unique clinical and genetic markers. Clinically, ATLL patients frequently present with simultaneous involvement of blood, lymph nodes, and organs, often with hypercalcemia, underscoring the need for HTLV-1 testing, especially in individuals from endemic regions like the Caribbean or West Africa.<br /><br />Despite aggressive treatment regimes including EPOCH chemotherapy and bone marrow transplant, prognosis remains poor, indicating a need for more effective therapies. Some patients are part of emerging CRISPR trials offering potential improvement. The study highlights the necessity of accurate diagnosis and the potential of genomic insights to aid in targeted therapies for ATLL.

Keywords

Adult T-cell leukemia/lymphoma

HTLV-1

immunophenotype

cytogenetic abnormalities

TP53 mutations

flow cytometry

CD4 positive

hypercalcemia

EPOCH chemotherapy

CRISPR trials