Clinicopathologic and molecular characterization of low-grade, early-stage, and HER2-positive invasive breast carcinoma

Am J Clin Pathol. 2025 Jun 3;163(6):854-865. doi: 10.1093/ajcp/aqaf010.

Abstract

Objectives: Breast carcinomas overexpressing human epidermal growth factor receptor 2 (HER2) are typically associated with higher tumor grade and faster progression. HER2 positivity is rare in low-grade breast carcinomas with unclear biological implications. We aimed to characterize their clinicopathologic and molecular profiles in this study.

Methods: There were 2 cohorts of Nottingham grade 1, HER2-positive invasive breast carcinomas examined: (1) an institutional series (n = 14) and (2) tumors from patients (n = 59) enrolled in the FLEX multicenter clinical registry with MammaPrint and BluePrint profiling.

Results: Most (79%) in the case series were both estrogen receptor (ER) and progesterone receptor (PR)-positive. Over half were pathologic or clinical T1N0 tumors. In the 9 cases with adequate material for next-generation sequencing, the majority (66%) demonstrated ERBB2 copy number variations. Most (66%) received HER2-targeted therapy. No recurrences were observed, with a median follow-up time of 43 months. In the FLEX cohort, most tumors were ER-positive (86%) and PR-positive (68%), and over half were clinical T1. Most (70%) were of the luminal phenotype, and over half (54%) were low-risk on MammaPrint.

Conclusions: Low-grade HER2-positive breast carcinomas constitute mostly low-stage, luminal-type, and apparently low-risk tumors, warranting investigation into whether therapy de-escalation could achieve favorable outcomes with less toxicity in this population.

Keywords: HER2-directed therapy; HER2-positive; invasive breast carcinoma; low-grade and early-stage breast carcinoma.

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Biomarkers, Tumor / genetics
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / metabolism
  • Breast Neoplasms* / pathology
  • Female
  • Humans
  • Middle Aged
  • Neoplasm Grading
  • Neoplasm Staging
  • Receptor, ErbB-2* / genetics
  • Receptor, ErbB-2* / metabolism
  • Receptors, Estrogen / metabolism
  • Receptors, Progesterone / metabolism

Substances

  • Receptor, ErbB-2
  • ERBB2 protein, human
  • Receptors, Estrogen
  • Biomarkers, Tumor
  • Receptors, Progesterone