HER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndrome Journal Article
| Authors: | Bottosso, M.; Sandoval, R. L.; Verret, B.; Polidorio, N.; Caron, O.; Gennari, A.; Bychkovsky, B. L.; Cahill, S. H.; Achatz, M. I.; Guarneri, V.; André, F.; Garber, J. E. |
| Article Title: | HER2 status and response to neoadjuvant anti-HER2 treatment among patients with breast cancer and Li-Fraumeni syndrome |
| Abstract: | Background: Breast cancer (BC) is the most common cancer among females with Li-Fraumeni syndrome (LFS), but available data on LFS-related BC characteristics are derived from small retrospective cohorts. Prior work has demonstrated a high proportion of HER2-positive BCs, but our understanding of how HER2-positive LFS BCs respond to anti-HER2 treatments is limited. Methods: BCs diagnosed in patients with germline TP53 variants between 2002–2022 were assembled from three institutions. Hormone receptor (HR) and HER2 expression were retrieved from pathology records. Pathologic complete response (pCR) was defined as ypT0/is ypN0. Results: A total of 264 BCs were identified among 232 patients with LFS: 211 (79.9 %) were invasive carcinomas, of which 106 were HER2-positive. Among HER2-positive BCs, most tumors co-expressed HRs (72.6 %) and were more frequent among those diagnosed at younger age (p < 0.001). Mastectomy was the preferred surgical approach among women with nonmetastatic cancers (77.8 %) and most received anti-HER2 targeted therapy (74.7 %). Among 38 patients receiving neoadjuvant therapy with available post-treatment pathology reports, 27 (71.1 %) achieved pCR: 18/26 (69.2 %) among HR-positive and 7/10 (70.0 %) HR-negative. The rate of pCR was 84.6 % among patients treated with an anthracycline-free regimen (all received trastuzumab). Among classifiable HER2-negative BCs (n = 77), 31 (40.3 %) were HER2-low and 46 (59.7 %) HER2-zero. Conclusions: Among females with LFS and BC, HER2-positive subtype was associated with younger age at diagnosis and a predominant HR-positivity. Favorable pCR rates were observed among those receiving neoadjuvant HER2-directed therapies, for both HR-positive and negative tumors. These data may inform the counseling and care of patients with LFS. © 2024 |
| Keywords: | adult; controlled study; human tissue; protein expression; major clinical study; clinical feature; systemic therapy; cancer patient; breast cancer; mastectomy; epidermal growth factor receptor 2; cohort analysis; surgical approach; protein p53; li-fraumeni syndrome; age distribution; neoadjuvant chemotherapy; trastuzumab; hormone receptor; her2; pertuzumab; pathological response; pathological complete response; neoadjuvant treatment; human epidermal growth factor receptor 2 positive breast cancer; invasive breast cancer; human; female; article; her2-low |
| Journal Title: | European Journal of Cancer |
| Volume: | 211 |
| ISSN: | 0959-8049 |
| Publisher: | Elsevier Inc. |
| Date Published: | 2024-11-01 |
| Start Page: | 114307 |
| Language: | English |
| DOI: | 10.1016/j.ejca.2024.114307 |
| PROVIDER: | scopus |
| PUBMED: | 39260016 |
| DOI/URL: | |
| Notes: | Erratum published at DOI: 10.1016/j.ejca.2025.115370 -- Source: Scopus |
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