Familial Cancer

, Volume 13, Issue 3, pp 459–467 | Cite as

Mosaic partial deletion of the PTEN gene in a patient with Cowden syndrome

  • Erin E. Salo-Mullen
  • Jinru Shia
  • Isaac Brownell
  • Peter Allen
  • Monica Girotra
  • Mark E. Robson
  • Kenneth Offit
  • Jose G. Guillem
  • Arnold J. Markowitz
  • Zsofia K. StadlerEmail author
Original Article


Cowden syndrome is an autosomal dominant condition caused by pathogenic mutations in the phosphatase and tensin homolog (PTEN) gene. Only a small proportion of identified pathogenic mutations have been reported to be large deletions and rearrangements. We report on a female patient with a previous history of breast ductal carcinoma in situ who presented to our institution for management of gastrointestinal hamartomatous polyposis. Although several neoplastic predisposition syndromes were considered, genetic evaluation determined that the patient met clinical diagnostic criteria for Cowden syndrome. Array-based comparative genomic hybridization was performed and revealed a mosaic partial deletion of the PTEN gene. Follow-up clinical history including bilateral thyroid nodules, dermatological findings, and a new primary “triple-negative” adenocarcinoma of the contralateral breast are discussed. We highlight the need for recognition and awareness of mosaicism as it may provide an explanation for variable phenotypic presentations and may alter the genetic counseling risk assessment of affected individuals and family members.


Breast cancer Cowden syndrome Hamartomatous polyposis Mosaicism PTEN gene 



The authors would like to acknowledge the Niehaus, Weissenbach, Southworth fund of the Robert and Kate Niehaus Clinical Cancer Genetics Initiative at MSKCC; the Sabin Family Research fund, the Tavel-Reznik Colorectal Cancer Research fund, and The Romeo Milio Lynch Syndrome Foundation. Z.K.S. is a Damon Runyon Cancer Research Foundation Clinical Investigator Award recipient.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  • Erin E. Salo-Mullen
    • 1
  • Jinru Shia
    • 2
  • Isaac Brownell
    • 1
  • Peter Allen
    • 3
  • Monica Girotra
    • 1
  • Mark E. Robson
    • 1
  • Kenneth Offit
    • 1
  • Jose G. Guillem
    • 3
  • Arnold J. Markowitz
    • 1
  • Zsofia K. Stadler
    • 1
    Email author
  1. 1.Department of MedicineMemorial Sloan-Kettering Cancer CenterNew YorkUSA
  2. 2.Department of PathologyMemorial Sloan-Kettering Cancer CenterNew YorkUSA
  3. 3.Department of SurgeryMemorial Sloan-Kettering Cancer CenterNew YorkUSA

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