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Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.

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Rosenberger, LH; Thomas, SM; Nimbkar, SN; Hieken, TJ; Ludwig, KK; Jacobs, LK; Miller, ME; Gallagher, KK; Wong, J; Neuman, HB; Tseng, J ...
Published in: Ann Surg Oncol
October 2020

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. RESULTS: Of 550 PT patients, 59.8% (n = 329) had a close family history of cancer, and 34.0% (n = 112) had ≥ 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 criteria but had no genetic testing. CONCLUSIONS: Very few women with PT undergo germline testing; however, in those selected for testing, a deleterious mutation was identified in ~ 10%. Multigene testing of a PT cohort would present an opportunity to discover the true incidence of germline mutations in PT patients.

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Published In

Ann Surg Oncol

DOI

EISSN

1534-4681

Publication Date

October 2020

Volume

27

Issue

10

Start / End Page

3633 / 3640

Location

United States

Related Subject Headings

  • Phyllodes Tumor
  • Oncology & Carcinogenesis
  • Humans
  • Germ-Line Mutation
  • Genetic Testing
  • Genetic Predisposition to Disease
  • Female
  • Cohort Studies
  • Breast Neoplasms
  • 3211 Oncology and carcinogenesis
 

Citation

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Rosenberger, L. H., Thomas, S. M., Nimbkar, S. N., Hieken, T. J., Ludwig, K. K., Jacobs, L. K., … Jakub, J. W. (2020). Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing. In Ann Surg Oncol (Vol. 27, pp. 3633–3640). United States. https://doi.org/10.1245/s10434-020-08480-z
Rosenberger, Laura H., Samantha M. Thomas, Suniti N. Nimbkar, Tina J. Hieken, Kandice K. Ludwig, Lisa K. Jacobs, Megan E. Miller, et al. “Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.” In Ann Surg Oncol, 27:3633–40, 2020. https://doi.org/10.1245/s10434-020-08480-z.
Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, et al. Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing. In: Ann Surg Oncol. 2020. p. 3633–40.
Rosenberger, Laura H., et al. “Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing.Ann Surg Oncol, vol. 27, no. 10, 2020, pp. 3633–40. Pubmed, doi:10.1245/s10434-020-08480-z.
Rosenberger LH, Thomas SM, Nimbkar SN, Hieken TJ, Ludwig KK, Jacobs LK, Miller ME, Gallagher KK, Wong J, Neuman HB, Tseng J, Hassinger TE, Jakub JW. Germline Genetic Mutations in a Multi-center Contemporary Cohort of 550 Phyllodes Tumors: An Opportunity for Expanded Multi-gene Panel Testing. Ann Surg Oncol. 2020. p. 3633–3640.
Journal cover image

Published In

Ann Surg Oncol

DOI

EISSN

1534-4681

Publication Date

October 2020

Volume

27

Issue

10

Start / End Page

3633 / 3640

Location

United States

Related Subject Headings

  • Phyllodes Tumor
  • Oncology & Carcinogenesis
  • Humans
  • Germ-Line Mutation
  • Genetic Testing
  • Genetic Predisposition to Disease
  • Female
  • Cohort Studies
  • Breast Neoplasms
  • 3211 Oncology and carcinogenesis