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Familial Cancer

, 10:437

First Online: 30 July 2011DOI: 10.1007-s10689-011-9469-3

Cite this article as: Jansen, M., Langeveld, D., De Leng, W.W.J. et al. Familial Cancer 2011 10: 437. doi:10.1007-s10689-011-9469-3


Familial cancer syndromes present rare insights into malignant tumor development. The molecular background of polyp formation and the cancer prone state in Peutz-Jeghers syndrome remain enigmatic to this day. Previously, we proposed that Peutz-Jeghers polyps are not pre-malignant lesions, but an epiphenomenon to the malignant condition. However, Peutz-Jeghers polyp formation and the cancer-prone state must both be accounted for by the same molecular mechanism. Our contribution focuses on the histopathology of the characteristic Peutz-Jeghers polyp and recent research on stem cell dynamics and how these concepts relate to Peutz-Jeghers polyposis. We discuss a protracted clonal evolution scenario in Peutz-Jeghers syndrome due to a germline LKB1 mutation. Peutz-Jeghers polyp formation and malignant transformation are separately mediated through the same molecular mechanism played out on different timescales. Thus, a single mechanism accounts for the development of benign Peutz-Jeghers polyps and for malignant transformation in Peutz-Jeghers syndrome.

KeywordsLKB1 Peutz-Jeghers syndrome Hamartoma LGR5 Clonal evolution Polyp  Download fulltext PDF

Author: Marnix Jansen - Danielle Langeveld - Wendy W. J. De Leng - Anya N. A. Milne - Francis M. Giardiello - G. Johan A. Of


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