SNFGE SNFGE
 
Thématique :
- Cancers autres
Originalité :
Très original
Solidité :
Très solide
Doit faire évoluer notre pratique :
Immédiatement
 
 
Nom du veilleur :
Professeur Thomas APARICIO
Coup de coeur :
 
 
Gut
  2017/03  
 
  2017 Mar;66(3):464-472.  
  doi: 10.1136/gutjnl-2015-309675.  
 
  Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.  
 
  Møller P, Seppälä T, Bernstein I, Holinski-Feder E, Sala P, Evans DG, Lindblom A, Macrae F, Blanco I, Sijmons R, Jeffries J, Vasen H, Burn J, Nakken S, Hovig E, Rødland EA, Tharmaratnam K, de Vos Tot Nederveen Cappel WH, Hill J, Wijnen J, Green K, Lalloo F, Sunde L, Mints M, Bertario L, Pineda M, Navarro M, Morak M, Renkonen-Sinisalo L, Frayling IM, Plazzer JP, Pylvanainen K, Sampson JR, Capella G, Mecklin JP, Möslein G; Mallorca Group (http://mallorca-group.eu).  
  https://www.ncbi.nlm.nih.gov/pubmed/26657901  
 
 

Abstract

OBJECTIVE:

Estimates of cancer risk and the effects of surveillance in Lynch syndrome have been subject to bias, partly through reliance on retrospective studies. We sought to establish more robust estimates in patients undergoing prospective cancer surveillance.

DESIGN:

We undertook a multicentre study of patients carrying Lynch syndrome-associated mutations affecting MLH1MSH2MSH6 or PMS2. Standardised information on surveillance, cancers and outcomes were collated in an Oracle relational database and analysed by age, sex and mutated gene.

RESULTS:

1942 mutation carriers without previous cancer had follow-up including colonoscopic surveillance for 13 782 observation years. 314 patients developed cancer, mostly colorectal (n=151), endometrial (n=72) and ovarian (n=19). Cancers were detected from 25 years onwards in MLH1 and MSH2 mutation carriers, and from about 40 years in MSH6 and PMS2 carriers. Among first cancer detected in each patient the colorectal cancer cumulative incidences at 70 years by gene were 46%, 35%, 20% and 10% for MLH1, MSH2, MSH6 and PMS2 mutation carriers, respectively. The equivalent cumulative incidences for endometrial cancer were 34%, 51%, 49% and 24%; and for ovarian cancer 11%, 15%, 0% and 0%. Ten-year crude survival was 87% after any cancer, 91% if the first cancer was colorectal, 98% if endometrial and 89% if ovarian.

CONCLUSIONS:

The four Lynch syndrome-associated genes had different penetrance and expression. Colorectal cancer occurred frequently despite colonoscopic surveillance but resulted in few deaths. Using our data, a website has been established at http://LScarisk.org enabling calculation of cumulative cancer risks as an aid to genetic counselling in Lynch syndrome.

 
Question posée
 
Quel est le risque de cancer en cas de syndrome de Lynch ?
 
Question posée
 
Variable en fonction du gène muté.
 
Commentaires

Il existait des données contradictoires concernant le risque de cancer en fonction du gène muté dans les syndromes de Lynch. Cette étude très robuste a permis d’établir un score évaluant le risque accessible par internet. 

 
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