Peutz-Jegher Syndrome in Gynecologic PathologyOzlen Saglam*
Assistant Professor, Department of Pathology, Yale University, USA
- *Corresponding Author:
- Ozlen Saglam
Department of Pathology
Yale University, USA
E-mail: [email protected]
Received Date: August 06, 2011; Accepted Date: October 12, 2011; Published Date: December 06, 2011
Citation: Saglam O (2011) Peutz-Jegher Syndrome in Gynecologic Pathology. J Clinic Experiment Pathol 1:e102. doi: 10.4172/2161-0681.1000e102
Copyright: © 2011 Saglam O. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by melanotic macules, intestinal polyps, and an increased cancer risk . There are diverse pathologic manifestations of the syndrome in females. These can present from early infancy to late adulthood either concomitantly or subsequently. There is no consensus or guidelines for cancer surveillance in PJS patients. There are occasions when the pathologistâ€™s awareness and interpretation of the microscopic findings can contribute to the overall clinical managements of these cases. PJS is caused by mutations in the serine/threonine kinase 11 gene (LKB1, STK11) in a majority of cases . Up to 25-30% of PJS patients carry a mutation in an unidentified gene that confers high susceptibility to cancer development. These patients probably have large rearrangements of LKB1, including deletions, duplications, and inversions of areas larger than an exon.