Familial Cancer

, Volume 18, Issue 1, pp 109–112 | Cite as

Low-level parental mosaicism in an apparent de novo case of Peutz–Jeghers syndrome

  • G. I. Butel-SimoesEmail author
  • A. D. Spigelman
  • R. J. Scott
  • R. E. Vilain
Original Article


We report the case of a female found to have mosaicism for mutation in the STK11 gene, with the mutant allele expressed in her gametes, evident by her affected offspring, and in her gastrointestinal tract demonstrated on an excised polyp analysed for diagnosis. Mosaicism for Peutz–Jeghers syndrome (PJS) has been reported in a small number of cases previously but a clinical presentation such as this has not previously been described. This finding of mosaicism was several years after initial investigations failed to identify the same STK11 mutation in this woman whose son was diagnosed with PJS at a young age. This case highlights the importance of considering mosaicism as an explanation for apparent de novo cases of PJS syndrome. It also has implications for genetic counselling, predictive testing and cancer screening.


Peutz–Jeghers syndrome (PJS) STK11 Mosaic Gonadal Somatic De novo 


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Copyright information

© Springer Nature B.V. 2018

Authors and Affiliations

  • G. I. Butel-Simoes
    • 1
    Email author
  • A. D. Spigelman
    • 2
    • 3
  • R. J. Scott
    • 4
  • R. E. Vilain
    • 5
  1. 1.Monash HealthMonash Medical CentreClaytonAustralia
  2. 2.Hunter Family Cancer ServiceNewcastleAustralia
  3. 3.St Vincent’s Hospital Clinical SchoolUNSWSydneyAustralia
  4. 4.Discipline of Medical GeneticsThe University of NewcastleNewcastleAustralia
  5. 5.Division of Anatomical Pathology, NSW Health Pathology (North)John Hunter HospitalNew LambtonAustralia

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