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Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature

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Abstract

Peutz–Jeghers syndrome is an uncommon genetic defect in the signal pathways of growth. The incidence has most recently been estimated to be in the range of 1 per 120,000 live births [1]. It is characterized by hamartomas throughout the gastrointestinal tract, mucocutaneous melanotic spots and increased predisposition to malignancy. The infrequent presentation of this syndrome in most practice combined with some less well-known diagnostic features may contribute to a misdiagnosis. Further, understanding of the genetic defect leading to the phenotypic syndrome and the future implications of this defect continue to evolve. Therefore we present a review in the setting of a case of misdiagnosed Peutz–Jeghers syndrome to portray illuminating features of the syndrome and review the literature.

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Authors and Affiliations

  1. Department of General Surgery, Mayo Clinic Arizona, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA

    Jason D. Fraser, Steven E. Briggs, Shawn D. St. Peter & Jacques Heppell

  2. Department of Pathology, 5777 E Mayo Blvd, Phoenix, AZ, 85054, USA

    Giovanni De Petris

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  1. Jason D. Fraser
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Correspondence to Jason D. Fraser.

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Fraser, J.D., Briggs, S.E., St. Peter, S.D. et al. Intussusception in the adult: an unsuspected case of Peutz–Jeghers syndrome with review of the literature. Familial Cancer 8, 95–101 (2009). https://doi.org/10.1007/s10689-008-9212-x

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