Deciphering clinical significance of BCL11A isoforms and protein expression roles in triple-negative breast cancer subtype

J Cancer Res Clin Oncol. 2023 Jul;149(7):3951-3963. doi: 10.1007/s00432-022-04301-w. Epub 2022 Aug 28.

Abstract

Purpose: Triple negative breast cancer (TNBC) is an aggressive clinical tumor, accounting for about 25% of breast cancer (BC) related deaths. Chemotherapy is the only therapeutic option to treat TNBC, hence a detailed understanding of the biology and its categorization is required. To investigate the clinical relevance of BCL11A in TNBC subtype, we focused on gene and protein expression and its mutational status in a large cohort of this molecular subtype.

Methods: Gene expression profiling of BCL11A and its isoforms (BCL11A-XL, BCL11A-L and BCL11A-S) has been determined in Luminal A, Luminal B, HER2-enriched and TNBC subtypes. BCL11A protein expression has been analyzed by immunohistochemistry (IHC) and its mutational status by Sanger sequencing.

Results: In our study, BCL11A was significantly overexpressed in TNBC both at transcriptional and translational levels compared to other BC molecular subtypes. A total of 404 TNBCs were selected and examined showing a high prevalence of BCL11A-XL (37.3%) and BCL11A-L (31.4%) isoform expression in TNBC, associated with a 26% of BCL11A protein expression levels. BCL11A protein expression predicts scarce LIV (HR = 0.52; 95% CI, 0.29-0.92, P = 0.03) and AR downregulation (HR = 0.37; 95% CI, 0.16-0.88; P = 0.02), as well as a higher proliferative index in TNBC cells. BCL11A-L expression is associated with more aggressive TNBC histological types, such as medullary and metaplastic carcinoma.

Conclusion: Our finding showed that BCL11A protein expression acts as an unfavorable prognostic factor in TNBC patients, especially in non luminal TNBCs subgroups. These results may yield a better treatment strategy by providing a new parameter for TNBC classification.

Keywords: BCL11A expression; BCL11A isoforms; BCL11A mutations; Survival analysis; Triple negative breast cancer.

MeSH terms

  • Breast / pathology
  • Breast Neoplasms* / pathology
  • Clinical Relevance
  • Female
  • Humans
  • Immunohistochemistry
  • Prognosis
  • Repressor Proteins / genetics
  • Transcription Factors
  • Triple Negative Breast Neoplasms* / pathology

Substances

  • Transcription Factors
  • BCL11A protein, human
  • Repressor Proteins