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Diagnostics
Volume 15
Issue 23
10.3390/diagnostics15233042
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Case Report

High-Risk Node-Positive Hormone Receptor-Positive/HER2-Low Breast Cancer Relapse on Adjuvant Abemaciclib Treatment with ER Loss at Metastatic Recurrence: A Case Report and Literature Review

by
Maria Vita Sanò
1,*,
Lorenza Marino
1,
Maria Puleo
1,2,
Sarah Pafumi
1,
Stefano Marletta
1,
Giuseppina Rosaria Rita Ricciardi
3 and
Carlo Carnaghi
1
1
Department of Medical Oncology, Humanitas Istituto Clinico Catanese, 95045 Catania, Italy
2
Department of Molecular Medicine, Sapienza University of Rome, 00185 Rome, Italy
3
Department of Onco-Haematology, Papardo Hospital, 98100 Messina, Italy
*
Author to whom correspondence should be addressed.
Diagnostics 2025, 15(23), 3042; https://doi.org/10.3390/diagnostics15233042 (registering DOI)
Submission received: 30 September 2025 / Revised: 9 November 2025 / Accepted: 26 November 2025 / Published: 28 November 2025
(This article belongs to the Special Issue Challenges in Monitoring and Diagnosis in Medical Sciences)
Review Reports Versions Notes

Abstract

Background and Clinical Significance: Up to 30% of patients with HR+/HER2-early breast cancer (eBC) may experience distant recurrence, and patients with high-risk clinical features have a higher likelihood of recurrence. For these patients, the addition of a CDK4/6 inhibitor to standard adjuvant endocrine therapy (ET) has demonstrated a significant reduction in the risk of invasive and distant recurrence. Despite that, a small subset of patients still experience distant relapse. To date, the characteristics of patients who relapse on adjuvant CDK 4/6i are not well defined. Case Presentation: Here we report the case of a patient with early-stage HR+/HER2− breast cancer at high risk of recurrence, who experienced distant metastatic relapse during adjuvant therapy with abemaciclib plus ET, with a shift in the tumor subtype to triple-negative. Genomic alterations associated with ET and cyclin-dependent kinase 4 and 6 inhibitor resistance were analyzed with next-generation sequencing (NGS) carried out at recurrence. Results showed P53 and PI3KCA pathway alterations, but no ESR1 mutation or RB1 mutations. The duration was 12 months for adjuvant abemaciclib, and the first-line metastatic treatment lasted less than 3 months. Conversely, T-DXd administered due to the presence of HER2-low showed excellent effectiveness. Conclusions: The management of breast cancer relapse occurring during adjuvant therapy with CDK4/6 inhibitors is challenging. Performing a re-biopsy is crucial due to the possible loss of estrogen receptors, which would require a change in therapeutic strategy no longer based on endocrine therapy. In cases that remain luminal, knowledge of the mutational profile may help to offer patients novel targeted treatments.
Keywords: metastatic breast cancer; adjuvant CDK4/6 inhibitors; estrogenic receptor loss; PI3KCA mutation; breast cancer relapse; triple-negative conversion; trastuzumab-deruxtecan; Her2low; ADC; case report metastatic breast cancer; adjuvant CDK4/6 inhibitors; estrogenic receptor loss; PI3KCA mutation; breast cancer relapse; triple-negative conversion; trastuzumab-deruxtecan; Her2low; ADC; case report

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MDPI and ACS Style

Sanò, M.V.; Marino, L.; Puleo, M.; Pafumi, S.; Marletta, S.; Ricciardi, G.R.R.; Carnaghi, C. High-Risk Node-Positive Hormone Receptor-Positive/HER2-Low Breast Cancer Relapse on Adjuvant Abemaciclib Treatment with ER Loss at Metastatic Recurrence: A Case Report and Literature Review. Diagnostics 2025, 15, 3042. https://doi.org/10.3390/diagnostics15233042

AMA Style

Sanò MV, Marino L, Puleo M, Pafumi S, Marletta S, Ricciardi GRR, Carnaghi C. High-Risk Node-Positive Hormone Receptor-Positive/HER2-Low Breast Cancer Relapse on Adjuvant Abemaciclib Treatment with ER Loss at Metastatic Recurrence: A Case Report and Literature Review. Diagnostics. 2025; 15(23):3042. https://doi.org/10.3390/diagnostics15233042

Chicago/Turabian Style

Sanò, Maria Vita, Lorenza Marino, Maria Puleo, Sarah Pafumi, Stefano Marletta, Giuseppina Rosaria Rita Ricciardi, and Carlo Carnaghi. 2025. "High-Risk Node-Positive Hormone Receptor-Positive/HER2-Low Breast Cancer Relapse on Adjuvant Abemaciclib Treatment with ER Loss at Metastatic Recurrence: A Case Report and Literature Review" Diagnostics 15, no. 23: 3042. https://doi.org/10.3390/diagnostics15233042

APA Style

Sanò, M. V., Marino, L., Puleo, M., Pafumi, S., Marletta, S., Ricciardi, G. R. R., & Carnaghi, C. (2025). High-Risk Node-Positive Hormone Receptor-Positive/HER2-Low Breast Cancer Relapse on Adjuvant Abemaciclib Treatment with ER Loss at Metastatic Recurrence: A Case Report and Literature Review. Diagnostics, 15(23), 3042. https://doi.org/10.3390/diagnostics15233042

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