Cancer incidence and survival in Lynch syndrome patients.....

open access: Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

 Significance of this study

What is already known on this subject?

• Inherited colorectal cancer may be caused by mismatch repair gene mutations and is then commonly referred to as Lynch syndrome.
• Lynch syndrome is under-recognised and results in about 0.1% of the population having a significantly increased risk of early onset colorectal, endometrial and ovarian cancer.
• Endoscopic surveillance with removal of precursor adenomas is recommended to prevent colorectal cancer.

What are the new findings?

• This is the first comprehensive prospective study to provide empirically observed data on colorectal cancer incidence and survival in Lynch syndrome.
• Colorectal cancer occurred despite colonoscopic surveillance with removal of adenomas.
• Colonoscopic surveillance with early detection and treatment of invasive colorectal cancer was associated with excellent survival. Survival after first endometrial or ovarian cancer was also excellent.
• Revised estimates of the different penetrance and expression patterns in carriers of MLH1, MSH2, MSH6 and PMS2 mutations. 
  
  
   Survival
  Overall 5-year and 10-year survival were excellent, reflecting survival for the most frequent cancers, CRC and endometrial cancer (table 7). Ovarian cancer survival also appeared to be excellent in LS patients, although the small number of cases adds uncertainty to the observation. A majority of patients also achieved 10-year survival of upper GI and urinary tract cancers, although survival rates were not as good as for the other cancers. 
  
  
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  Table 7
  5-year and 10-year crude survival after first cancer diagnosed by cancer type in Lynch syndrome (LS) patients without prior or prevalent cancer at first colonoscopy 
  
  
  
  
  Table 7

  5-year and 10-year crude survival after first cancer diagnosed by cancer type in Lynch syndrome (LS) patients without prior or prevalent cancer at first colonoscopy

  Group	Number cases	5-year survival (95% CI)	10-year survival (95% CI)
  Any cancer	301	90% (86 to 93)	87% (83 to 91)
  Colorectal cancer	140	94% (90 to 98)	91% (84 to 95)
  Endometrial cancer	71	98% (88 to 99.8)	98% (88 to 99.8)
  Ovarian cancer	19	88% (60 to 97)	89% (60 to 97)
  Upper GI cancer	24	58% (36 to 75)	53% (31 to 71)
  Urinary tract cancer	17	82% (51 to 93)	73% (42 to 89)