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

Autor:	Edema U; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Liu J; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Ma MY; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Krishnamurthy K; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Choudhuri J; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Li X; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Marhatta A; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Qi X; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Ma IR; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Wang Q; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Shastri A; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Goldfinger M; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Gritsman K; Department of Oncology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Sica RA; Department of Oncology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Mantzaris I; Department of Oncology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Kornblum N; Department of Oncology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Konopleva M; Department of Oncology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Wang Y; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US., Shi Y; Department of Pathology, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY, US.
Jazyk:	angličtina
Zdroj:	American journal of clinical pathology [Am J Clin Pathol] 2024 Aug 30. Date of Electronic Publication: 2024 Aug 30.
DOI:	10.1093/ajcp/aqae111
Abstrakt:	Objectives: 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. Methods: 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. Results: 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. Conclusions: 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.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu