PLoS ONE (Jan 2019)

Mutation and immune profiling of metaplastic breast cancer: Correlation with survival.

  • Michelle Afkhami,
  • Daniel Schmolze,
  • Susan E Yost,
  • Paul H Frankel,
  • Andrew Dagis,
  • Idoroenyi U Amanam,
  • Milhan Telatar,
  • Kim Nguyen,
  • Kim Wai Yu,
  • Thehang Luu,
  • Raju Pillai,
  • Patricia A Aoun,
  • Joanne Mortimer,
  • Yuan Yuan

DOI
https://doi.org/10.1371/journal.pone.0224726
Journal volume & issue
Vol. 14, no. 11
p. e0224726

Abstract

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The goal of this study is to characterize the genomic and immune profiles of metaplastic breast cancer (MpBC) and identify the association with survival through an analysis of archived tumor tissue. A next-generation sequencing-based mutational assay (Onco-48) was performed for 21 MpBC patients. Clinicopathologic characteristics were captured, including relapse free survival (RFS) and overall survival (OS). Immunohistochemistry (IHC) for CD3, CD4, CD8, and programmed death-ligand 1 (PD-L1) was also performed. Recurrence free survival (RFS) at 5 years was 57% (95% CI 0.34-0.75) and overall survival (OS) at 5 years was 66% (95% CI 0.41-0.82). The most commonly altered genes were TP53 (68.4%, 13/19), PIK3CA (42.1%, 8/19), and PTEN (15.8%, 3/19. For patients with PIK3CA mutations, RFS and OS were significantly worse than for those without (HR 5.6, 95% CI 1.33-23.1 and HR 8.0, 95% CI 1.53-41.7, respectively). Cox regression estimated that PD-L1 expression was associated with worse RFS and OS (HR 1.08, 95% CI 1.01-1.16 and HR 1.05, 95% CI 1.00-1.11, respectively, for an absolute increase in PD-L1 expression of 1%). In conclusion, PIK3CA mutation and PD-L1 expression confer poor prognosis in this cohort of patients with MpBC.