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- Title
Immunophenotypic but Not Genetic Changes Reclassify the Majority of Relapsed/Refractory Pediatric Cases of Early T-Cell Precursor Acute Lymphoblastic Leukemia.
- Authors
Demina, Irina; Dagestani, Aya; Borkovskaia, Aleksandra; Semchenkova, Alexandra; Soldatkina, Olga; Kashpor, Svetlana; Olshanskaya, Yulia; Roumiantseva, Julia; Karachunskiy, Alexander; Novichkova, Galina; Maschan, Michael; Zerkalenkova, Elena; Popov, Alexander
- Abstract
Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) develops from very early cells with the potential for both T-cell and myeloid differentiation. The ambiguous nature of leukemic blasts in ETP-ALL may lead to immunophenotypic alterations at relapse. Here, we address immunophenotypic alterations and related classification issues, as well as genetic features of relapsed pediatric ETP-ALL. Between 2017 and 2022, 7518 patients were diagnosed with acute leukemia (AL). In addition to conventional immunophenotyping, karyotyping, and FISH studies, we performed next-generation sequencing of the T-cell receptor clonal repertoire and reverse transcription PCR and RNA sequencing for patients with ETP-ALL at both initial diagnosis and relapse. Among a total of 534 patients diagnosed with T-cell ALL (7.1%), 60 had ETP-ALL (11.2%). Ten patients with ETP-ALL experienced relapse or progression on therapy (16.7%), with a median time to event of 5 months (ranging from two weeks to 5 years). Most relapses were classified as AL of ambiguous lineage (n = 5) and acute myeloid leukemia (AML) (n = 4). Major genetic markers of leukemic cells remained unchanged at relapse. Of the patients with relapse, four had polyclonal leukemic populations and a relapse with AML or bilineal mixed-phenotype AL (MPAL). Three patients had clonal TRD rearrangements and relapse with AML, undifferentiated AL, or retention of the ETP-ALL phenotype. ETP-ALL relapse requires careful clinical and laboratory diagnosis. Treatment decisions should rely mainly on initial examination data, taking into account both immunophenotypic and molecular/genetic characteristics.
- Subjects
LYMPHOBLASTIC leukemia; ACUTE leukemia; ACUTE myeloid leukemia; T cell receptors; T cells; NUCLEOTIDE sequencing; RNA sequencing
- Publication
International Journal of Molecular Sciences, 2024, Vol 25, Issue 11, p5610
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms25115610