Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome.

PURPOSE: Universal screening for Lynch syndrome (LS) on resected colorectal carcinomas (CRCs) and endometrial carcinomas (ECs) was implemented in Iceland in 2017 using immunohistochemistry (IHC) for mismatch repair (MMR) proteins. We examined the efficacy of the universal screening algorithm to detect LS and the diagnostic accuracy of MMR IHC by comparing results with a population-based genotype database. METHODS: All patients diagnosed with CRC or EC per the Icelandic Cancer Registry from 2017 to 2019 who had tumor MMR IHC performed were included. Pathology reports and patient charts were reviewed. MMR IHC stains were crossmatched with genotyping results obtained from the deCODE database. RESULTS: IHC staining was done on 404 patients with CRC and 74 patients with EC. A total of 61 (15.1%) patients with CRC and 15 (20.3%) patients with EC were MMR-deficient. MMR IHC had 88.9% sensitivity in identifying patients with LS and a positive predictive value of 10.7%. Only 50% of individuals were appropriately referred for genetic testing, leading to underdiagnosis of LS. CONCLUSION: Universal screening for LS using MMR protein IHC in CRC and EC accurately identified patients appropriate for genetic testing in a population with MSH6 and PMS2 LS predominance. Because of lack of referral to genetic counseling, only 50% of patients with LS were identified through the screening algorithm.

Prevalence of heart failure in the elderly and future projections: the AGES-Reykjavík study.

OBJECTIVES: To assess the prevalence of heart failure (HF) in a randomly selected study population of elderly individuals representing the general population of Iceland. Furthermore, to project the number of individuals likely to have HF in the future. DESIGN: Baseline characteristics and clinical data from 5706 individuals who participated in the population based AGES-Reykjavik Study and gave their informed consent were used. Their age range was 66-98 years (mean age 77.0 ± 5.9 years), 57.6% were females. HF-diagnoses were established by review of hospital records and adjudicated according to prespecified criteria. Data from the 'Statistics Iceland' institution on the current size, age and sex distribution of the population and its prediction into the sixth decade were also used. RESULTS: The prevalence of HF was 3.6% in the sexes combined, but higher in men (5.1%) than women (2.7%) (p < .001). The prevalence of HF per age groups ≤69, 70-74, 75-79, 80-84 and ≥85 years was 1.7%, 1.5%, 3.7%, 5.2% and 7.2%, respectively. The number of individuals ≥70 years with HF will increase considerably in the future. Thus, a calculation based on the projected age distribution and increase in the number of elderly ≥70 years in the coming decades, demonstrated that the number of patients with HF will have increased 2.3-fold by the year 2040 and tripled by the year 2060. CONCLUSIONS: This study, in a cohort of elderly participants representative of the general population in a Nordic country, predicts that HF will be a major and increasing health problem in the coming decades.

[Heart failure among elderly Icelanders: Incidence, prevalence, underlying diseases and long-term survival].

INTRODUCTION: Heart failure (HF) is a common and a serious condition that predominantly affects elderly people. On the basis of the left ventricular ejection fraction (EF) it can be divided into HF with reduced or preserved ejection fraction (HFrEF and HFpEF, respectively). The goal of this study was to investigate the prevalence and incidence of HF among elderly Icelanders, explore underlying diseases and estimate the effect of HF on overall survival. MATERIAL AND METHODS: Included were 5706 participants of the AGES study. The hospital records of those diagnosed with HF before entry into AGES were used to calculate prevalence and the records of those diagnosed from entry into AGES until 28.2.2010 were used to calculate incidence. All cases of HF were verified according to predetermined criteria for diagnosis. Information on underlying diseases and EF of HF patients were obtained from hospital records. Survival was estimated using Kaplan-Meier survival curves. RESULTS: Lifetime prevalence of HF was 3.6% as of 2004, higher among men than women (p<0,001). The incidence was 16.2 cases per 1000 person-years, higher among men than among women (p<0,001). The incidence of HFrEF was 6.1 per 1000 person-years also higher among men than women (p<0,001). The incidence of HFpEF was 6.8 per 1000 person-years and there was no statistical difference between the sexes (p=0.62). The age adjusted 5-year survival rate of HF-patients was 32.5%, there was no statistical difference in relative survival between men and women (p=0.46). There was no statistical difference between the survival of patients with HFrEF and those with HFpEF (p=0.52). CONCLUSION: Both prevalence and incidence of HF are high among elderly Icelanders, increasing sharply with age and 5-year survival rate is only around 30%. While men are more likely to develop HF, especially HFrEF, women are more likely to be diagnosed with HFpEF.