Clinicopathological differences between T-lymphoblastic leukemia/lymphoma, early T-precursor lymphoblastic leukemia/lymphoma, and mixed-phenotype acute leukemia with T lineage: An analysis of 41 adult cases

Hum Pathol. 2024 Aug:150:78-85. doi: 10.1016/j.humpath.2024.06.016. Epub 2024 Jun 28.

Abstract

The histopathological diagnosis of T-lymphoblastic leukemia/lymphoma, NOS (T-ALL), is based on morphology and positivity for CD3 and TdT. Early T-precursor lymphoblastic leukemia/lymphoma (ETP-ALL) and mixed-phenotype acute leukemia (MPAL), T/M, and/or B rarely occur and are usually diagnosed using flow cytometry. Using only formalin-fixed paraffin-embedded tissue raises the risk of misdiagnosis due to underestimation. Immunostaining markers for T cell (CD1a, CD4, CD5, CD8), B cell (CD19, CD10, CD22, CD79a), and stem/myeloid-related cell (CD33, CD34, CD117, MPO, lysozyme) diagnosed 25 T-ALL cases (61%), 7 MPAL (17%), 6 ETP-ALL (15%), and 3 near ETP-ALL (7%), with subsequent analysis of their clinicopathological characteristics. Patients with MPAL had significantly poorer 2-year progression-free survival (14.3% vs. 60.4%, P = 0.012) and 5-year overall survival (28.6% vs. 65.9%, P = 0.011) than did those with T-ALL, whereas ETP-ALL and near ETP-ALL did not. Of the seven patients with MPAL, three were classified as T/B, two as T/M, and two as T/M/B. Because most MPALs (6/7) share the ETP-ALL phenotype, immunohistochemistry for CD19 and MPO should be performed to avoid misdiagnosing MPAL as ETP-ALL. All three patients with TdT-negative MPAL died of the disease. Four patients with MPO-positive MPAL relapsed during the early phase (1-9 months). Five patients received the ALL regimen, but two patients received acute myeloid leukemia and lymphoma regimens, respectively. In this study, MPAL exhibited a poorer prognosis compared to T-ALL, unlike ETP-ALL. Thus, immunohistochemical classification with multiple antibody panels is useful for accurate diagnosis and treatment.

Keywords: Early T-precursor lymphoblastic leukemia/lymphoma; Immunohistochemistry; Mixed-phenotype acute leukemia; Prognosis; T-lymphoblastic leukemia/lymphoma.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biomarkers, Tumor* / analysis
  • Cell Lineage
  • Diagnosis, Differential
  • Female
  • Humans
  • Immunohistochemistry
  • Immunophenotyping
  • Leukemia, Biphenotypic, Acute / diagnosis
  • Leukemia, Biphenotypic, Acute / pathology
  • Male
  • Middle Aged
  • Phenotype
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma* / diagnosis
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma* / immunology
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma* / mortality
  • Precursor T-Cell Lymphoblastic Leukemia-Lymphoma* / pathology
  • Progression-Free Survival
  • Young Adult

Substances

  • Biomarkers, Tumor