Prolonged response to trastuzumab in a patient with HER2-nonamplified breast cancer with elevated HER2 dimerization harboring an ERBB2 S310F mutation

Saranya Chumsri, Jodi Weidler, Siraj Ali, Sohail Balasubramanian, Gerald Wallweber, Lisa De Fazio-Eli, Ahmed Chenna, Weidong Huang, Angela De Ridder, Lindsay Goicocheal, Edith A. Perez

Research output: Contribution to journalArticle

19 Scopus citations

Abstract

In the current genomic era, increasing evidence demonstrates that approximately 2% of HER2-negative breast cancers, by current standard testings, harbor activating mutations of ERBB2. However, whether patients with HER2-negative breast cancer with activating mutations of ERBB2 also experience response to anti-HER2 therapies remains unclear. This case report describes a patient with HER2-nonamplified heavily pretreated breast cancer who experienced prolonged response to trastuzumab in combination with pertuzumab and fulvestrant. Further molecular analysis demonstrated that her tumors had an elevated HER2 dimerization that corresponded to ERBB2 S310F mutation. Located in the extracellular domain of the HER2 protein, this mutation was reported to promote noncovalent dimerization that results in the activation of the downstream signaling pathways. This case highlights the fact that HER2-targeted therapy may be valuable in patients harboring an ERBB2 S310F mutation.

Original languageEnglish (US)
Pages (from-to)1066-1070
Number of pages5
JournalJNCCN Journal of the National Comprehensive Cancer Network
Volume13
Issue number9
StatePublished - Sep 1 2015

ASJC Scopus subject areas

  • Oncology

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    Chumsri, S., Weidler, J., Ali, S., Balasubramanian, S., Wallweber, G., De Fazio-Eli, L., Chenna, A., Huang, W., De Ridder, A., Goicocheal, L., & Perez, E. A. (2015). Prolonged response to trastuzumab in a patient with HER2-nonamplified breast cancer with elevated HER2 dimerization harboring an ERBB2 S310F mutation. JNCCN Journal of the National Comprehensive Cancer Network, 13(9), 1066-1070.