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Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults
  1. Fresia Pareja1,
  2. Arnaud Da Cruz Paula1,
  3. Melissa P Murray1,
  4. Timothy Hoang1,
  5. Rodrigo Gularte-Mérida1,
  6. David Brown1,
  7. Edaise M da Silva1,
  8. Ana Paula Martins Sebastiao1,2,3,
  9. Dilip D Giri1,
  10. Britta Weigelt1,
  11. Jorge S Reis-Filho1,
  12. Edi Brogi1
  1. 1 Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA
  2. 2 Post-Graduate Program in Health Sciences, Pontifical Catholic University of Paraná, Curitiba, Brazil
  3. 3 Department of Medical Pathology, Federal University of Paraná, Curitiba, Brazil
  1. Correspondence to Dr Edi Brogi, Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA; brogie{at}mskcc.org

Abstract

Aims Most benign breast fibroepithelial lesions (FEL) in adults harbour recurrent somatic MED12 exon 2 mutations and rare TERT promoter hotspot mutations. We sought to determine the frequency of MED12 exon 2 and TERT promoter hotspot mutations in fibroadenomas (FA) and benign phyllodes tumours (BePT) in adolescents and young adults.

Methods DNA from 21 consecutive FAs and eight consecutive BePTs in adolescents and young adults was subjected to Sanger sequencing of the exon 2 of MED12 and the TERT promoter hotspot locus.

Results We identified MED12 exon 2 mutations in 62% and 88% of FAs and BePTs, respectively, and no TERT promoter hotspot mutations. The majority of the MED12 exon 2 mutations identified were in-frame deletions (60%).

Conclusions As in adults, benign FELs in juvenile patients harbour recurrent MED12 exon 2 mutations.

  • fibroadenoma
  • phyllodes tumour
  • sequencing
  • MED12
  • telomerase

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Footnotes

  • FP and ADCP are joint first authors.

  • Handling editor Runjan Chetty.

  • Contributors JSRF and EB conceived the study. MPM and EB provided tissue samples and clinical data. FP, MPM, DDG and EB performed the pathology review. Sample processing and Sanger sequencing were performed by FP, ADCP, TH and EMdS. Data acquisition, interpretation and analysis were performed by FP, ADCP, RGM, DB, EMdS, APMS and BW. The manuscript was initially drafted by FP, EB and JSRF, and all authors edited and approved the final draft of the manuscript.

  • Funding The research reported in this publication was funded in part by a Cancer Center Support Grant of the National Institutes of Health/National Cancer Institute (grant number P30CA008748).

  • Disclaimer The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

  • Competing interests JSRF reports personal/consultancy fees from VolitionRx, Page.AI and Goldman Sachs, Idengene, Grail and Ventana Medical Systems, outside the submitted work.

  • Provenance and peer review Not commissioned; internally peer reviewed.

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