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Diagnostic Challenges of Early T-cell Precursor Acute Lymphoblastic Leukemia: A Case Report and Literature Review

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Journal Cureus
Date 2024 Nov 18
PMID 39553118
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Abstract

Early T-cell precursor acute lymphoblastic leukemia (ETP-ALL) is an uncommon subtype of T-cell acute lymphoblastic leukemia (T-ALL), constituting approximately 10-13% of T-ALL cases in childhood and 5-10% in adults. A 55-year-old female patient presented with no significant medical history and was hospitalized in the internal medicine department due to anemia and deterioration of her overall health. The clinical examination did not reveal any tumor syndrome. A complete blood count was performed showing normocytic normochromic anemia with leukocytosis. The myelogram revealed bone marrow invasion by blasts of 80%. Immunophenotyping revealed the presence of a blast population of T lymphoid nature estimated at 74% of the marrow elements with a particular immunophenotype. Thus, the diagnosis of ETP-ALL was retained. A karyotype was carried out showing the presence of a hypotetraploid clone with clonal anomalies in number and structure. The patient was put on hyper-CVAD protocol (cyclophosphamide, doxorubicine, vincristine, dexamethasone). A myelogram at the end of induction revealed the presence of 45% blasts. The categorization of ETP-ALL as a distinct entity in the WHO classification arises from its distinguishable phenotypic and genetic characteristics. However, the diagnosis and management of ETP-ALL always constitutes a challenge for the biologist and clinician. Therefore, it is essential to conduct more extensive studies for a better comprehension of the clinical and biological features of ETP-ALL, specifically focusing on its genetic nuances.

References
1.
Dworzak M, Buldini B, Gaipa G, Ratei R, Hrusak O, Luria D . AIEOP-BFM consensus guidelines 2016 for flow cytometric immunophenotyping of Pediatric acute lymphoblastic leukemia. Cytometry B Clin Cytom. 2017; 94(1):82-93. DOI: 10.1002/cyto.b.21518. View

2.
Sin C, Man P . Early T-Cell Precursor Acute Lymphoblastic Leukemia: Diagnosis, Updates in Molecular Pathogenesis, Management, and Novel Therapies. Front Oncol. 2021; 11:750789. PMC: 8666570. DOI: 10.3389/fonc.2021.750789. View

3.
Khurana S, Melody M, Ketterling R, Peterson J, Luoma I, Vazmatzis G . Molecular and phenotypic characterization of an early T-cell precursor acute lymphoblastic lymphoma harboring PICALM-MLLT10 fusion with aberrant expression of B-cell antigens. Cancer Genet. 2019; 240:40-44. DOI: 10.1016/j.cancergen.2019.11.002. View

4.
Tarantini F, Cumbo C, Anelli L, Zagaria A, Specchia G, Musto P . Inside the biology of early T-cell precursor acute lymphoblastic leukemia: the perfect trick. Biomark Res. 2021; 9(1):89. PMC: 8686563. DOI: 10.1186/s40364-021-00347-z. View

5.
Porwit A, Bene M . Multiparameter flow cytometry applications in the diagnosis of mixed phenotype acute leukemia. Cytometry B Clin Cytom. 2019; 96(3):183-194. DOI: 10.1002/cyto.b.21783. View