Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Mu
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ORIGINAL ARTICLE – BREAST ONCOLOGY
Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing Laura H. Rosenberger, MD1,2, Samantha M. Thomas, MS2,3, Suniti N. Nimbkar, MD4, Tina J. Hieken, MD5, Kandice K. Ludwig, MD6, Lisa K. Jacobs, MD7, Megan E. Miller, MD8, Kristalyn K. Gallagher, DO9, Jasmine Wong, MD10, Heather B. Neuman, MD11, Jennifer Tseng, MD12, Taryn E. Hassinger, MD13, and James W. Jakub, MD5 Department of Surgery, Duke University Medical Center, Durham, NC; 2Duke Cancer Institute, Duke University, Durham, NC; 3Biostatistics and Bioinformatics, Duke University, Durham, NC; 4Brigham and Women’s Hospital, DanaFarber Cancer Institute, Boston, MA; 5Department of Surgery, Mayo Clinic, Rochester, MN; 6Department of Surgery, Indiana University School of Medicine, Indianapolis, IN; 7Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD; 8Department of Surgery, University Hospitals, Case Western Reserve University School of Medicine, Cleveland, OH; 9Department of Surgery, University of North Carolina, Chapel Hill, NC; 10Department of Surgery, University of California, San Francisco, San Francisco, CA; 11Department of Surgery, University of Wisconsin, Madison, WI; 12Department of Surgery, University of Chicago Medicine, Chicago, IL; 13Department of Surgery, University of Virginia Health System, Charlottesville, VA
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ABSTRACT Background. A paucity of data exists regarding inherited mutations associated with phyllodes tumors (PT); however, some are reported (TP53, BRCA1, and RB1). A PT diagnosis does not meet NCCN criteria for testing, including within Li-Fraumeni Syndrome (TP53). We sought to determine the prevalence of mutations associated with PT. Methods. We performed an 11-institution review of contemporary (2007–2017) PT practice. We recorded multigenerational family history and personal history of genetic testing. We identified patients meeting NCCN criteria for genetic evaluation. Logistic regression estimated the association of select covariates with likelihood of undergoing genetic testing.
Presentation: Poster presentation, SSO 73rd Annual Cancer Symposium 2020. Boston, MA. Ó Society of Surgical Oncology 2020 First Received: 21 February 2020 L. H. Rosenberger, MD e-mail: [email protected]
Results. Of 550 PT patients, 59.8% (n = 329) had a close family history of cancer, and 34.0% (n = 112) had C 3 family members affected. Only 6.2% (n = 34) underwent genetic testing, 38.2% (n = 13) of whom had only BRCA1/ BRCA2 tested. Of 34 patients tested, 8.8% had a deleterious mutation (1 BRCA1, 2 TP53), and 5.9% had a BRCA2 VUS. Of women who had TP53 testing (N = 21), 9.5% had a mutation. Selection for testing was not associated with age (odds ratio [OR] 1.01, p = 0.55) or PT size (p = 0.12) but was associated with grade (malignant vs. benign: OR 9.17, 95% CI 3.97–21.18) and meeting NCCN criteria (OR 3.43, 95% confidence interval 1.70–6.94). Notably, an additional 86 (15.6%) patients met NCCN
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