Peutz-Jeghers syndrome – the clinical genetic perspective

Dr. Anja Wagner and dr. Esther Korpershoek are working at the department of Clinical Genetics of the Erasmus MC Cancer Institute, University Medical Center Rotterdam, in the Netherlands. Anja is an oncogeneticist with a clinical and scientific focus on hereditary gastrointestinal tumors. Esther has a background in molecular pathology, but currently works in the diagnostic DNA laboratory of the Clinical Genetics department bridging molecular tumor and germline diagnostics.

Due to the rarity and the variety of health risks in PJS close multidisciplinary collaboration is needed to provide the necessary care for PJS patients. Anja was the chair of the PJS working group from the European Hereditary Tumour Group (EHTG), that revised the EHTG guideline on PJS in 2021. She was also involved in the European Society of Gastrointestinal Endoscopy (ESGE) guideline 2019 for among others PJS surveillance. The genetic and pathology diagnostic laboratories of our center have decades of experience in diagnosing PJS molecularly, including the detection of large deletions and mosaicism.

In this webinar, Anja and Esther will present the current guidelines on Peutz-Jeghers syndrome and will illustrate challenges in the diagnosis of this rare syndrome.