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- Title
Metastatic Breast Cancer With ESR1 Mutation: Clinical Management Considerations From the Molecular and Precision Medicine (MAP) Tumor Board at Massachusetts General Hospital.
- Authors
Bardia, Aditya; Iafrate, John A.; Sundaresan, Tilak; Younger, Jerry; Nardi, Valentina
- Abstract
The last decade in oncology has witnessed impressive response rates with targeted therapies, largely because of collaborative efforts at understanding tumor biology and careful patient selection based on molecular fingerprinting of the tumor. Consequently, there has been a push toward routine molecular genotyping of tumors, and large precision medicine-based clinical trials have been launched to match therapy to the molecular alteration seen in a tumor. However, selecting the "right drug" for an individual patient in clinic is a complex decision-making process, including analytical interpretation of the report, consideration of the importance of the molecular alteration in driving growth of the tumor, tumor heterogeneity, the availability of a matched targeted therapy, efficacy and toxicity considerations of the targeted therapy (compared with standard therapy), and reimbursement issues. In this article, we review the key considerations involved in clinical decision making while reviewing a molecular genotyping report. We present the case of a 67-year-old postmenopausal female with metastatic estrogen receptor-positive (ER1) breast cancer, whose tumor progressed on multiple endocrine therapies. Molecular genotyping of the metastatic lesion revealed the presence of an ESR1 mutation (encoding p.Tyr537Asn), which was absent in the primary tumor. The same ESR1 mutation was also detected in circulating tumor DNA (ctDNA) extracted from her blood. The general approach for interpretation of genotyping results, the clinical significance of the specific mutation in the particular cancer, potential strategies to target the pathway, and implications for clinical practice are reviewed in this article.
- Subjects
MASSACHUSETTS; BREAST tumor diagnosis; BIOPSY; BREAST tumors; CELL receptors; DNA; GENES; METASTASIS; MOLECULAR diagnosis; GENETIC mutation; POLYMERASE chain reaction; PUBLIC hospitals; TUMOR markers; DECISION making in clinical medicine; POSTMENOPAUSE; DISEASE progression; SEQUENCE analysis; GENOTYPES; DIAGNOSIS; GENETICS
- Publication
Oncologist, 2016, Vol 21, Issue 9, p1035
- ISSN
1083-7159
- Publication type
Article
- DOI
10.1634/theoncologist.2016-0240