Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospect
- PDF / 605,474 Bytes
- 5 Pages / 595.276 x 790.866 pts Page_size
- 68 Downloads / 187 Views
REVIEW
Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD) Toni T. Seppälä1,2 · Mev Dominguez‑Valentin3 · Julian R. Sampson4 · Pål Møller3 Received: 28 February 2020 / Accepted: 2 June 2020 © The Author(s) 2020
Abstract The Prospective Lynch Syndrome Database (PLSD) has been developed as an international, multicentre, prospective, observational study that aims to provide age and organ-specific cancer risks according to gene and gender, estimates of survival after cancer and information on the effects of interventions. Recent reports from PLSD provided improved estimates of cancer risks and survival and showed that different time intervals between surveillance colonoscopies did not affect the incidence, stage or prognosis of colorectal cancer. The PLSD reports suggest that current management guidelines for Lynch syndrome should be revised in light of the different gene and gender-specific cancer risks and the good prognosis for the most commonly associated cancers. In this review, we describe the discrepancies between the current management guidelines for Lynch Syndrome and the most recent prospective observational studies, indicating the areas of further research. Keywords Lynch syndrome · Hereditary non-polyposis colorectal cancer · Colorectal cancer · Colonoscopy · Surveillance · Prevention · Precision medicine · PLSD · Cancer incidence
Lack of big data in Lynch Syndrome: PLSD development Our understanding of cancer risks and the effects of surveillance in Lynch syndrome (LS) has been informed previously by retrospective studies and limited by the use of clinical criteria to select individuals for molecular testing (Amsterdam I or II criteria, Bethesda guidelines). In addition, the lack of validation in independent cohorts and inconsistent classification of genetic mismatch repair (MMR) variants have * Toni T. Seppälä [email protected]; [email protected] 1
Department of Surgery, Helsinki University Hospital, Helsinki, Finland
2
Department of Surgical Oncology, Johns Hopkins University, Baltimore, USA
3
Department of Tumor Biology, Institute of Cancer Research, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway
4
Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff, UK
mitigated against the calculation of accurate risks which are essential for planning appropriate approaches to the prevention or early diagnosis of cancers. Researchers from several collaborating European centres agreed to establish the Prospective Lynch Syndrome Database (PLSD) during a meeting in Palma, Mallorca on May 4th 2012. At the time the group was recognized as ‘The Mallorca Group’, but this has more recently expanded and formalized as the European Hereditary Tumour Group (EHTG); a charitable company registered in Scotland (number SC048407). The aim of PLSD is to provide age and organ-specific cancer risks according to gene and gen
Data Loading...
