scholarly journals Results of a selective screening approach for Lynch Syndrome: Need for standardization?

2014 ◽  
Vol 12 (11) ◽  
pp. 1242
Author(s):  
Vanessa W. Hui ◽  
Rachel A. Levy ◽  
José G. Guillem
2021 ◽  
Vol 17 ◽  
Author(s):  
Jessica E. Parker ◽  
Caitlin Mauer ◽  
Wenxin Zheng ◽  
David S. Miller ◽  
Jayanthi S. Lea

Background: There is an increased proportion of non-endometrioid histologies in Lynch syndrome-associated compared to sporadic endometrial cancer, however screening recommendations do not differ between type I and type II cancers. Objective: Our objective was to examine the frequency of Lynch syndrome identified in type I and type II endometrial cancers and their associated characteristics. Methods: We reviewed patients with type I and type II endometrial cancer who were screened for Lynch Syndrome or referred for genetic testing according to an age and family-history based screening protocol. All patients were seen and treated at large academic institution affiliated with a county safety-net hospital. Clinical, pathologic, immunohistochemistry, and germline genetic testing results were obtained as well as choice of genetic screening approach, personal and family history, and compliance with testing. Results: 234 women with type I and 29 patients with type II endometrial cancer were identified. Lynch syndrome was diagnosed in a total of eight (3.4%) type I endometrial cancer patients, all identified after age-based tumor screening. In the type II endometrial cancer group, three (10.3%) patients had Lynch syndrome. One was referred for testing after abnormal immunohistochemistry screening under age 60. The other two were >60 years old and identified after abnormal immunohistochemistry screening performed by physician request. Conclusion: Age based screening may not diagnose Lynch Syndrome in women with type II endometrial cancers. Our findings underscore the need for a universal screening approach in patients with type II endometrial cancers, even in a low resource population.


2014 ◽  
Vol 170 (1) ◽  
pp. 87-93 ◽  
Author(s):  
Basilio Pintaudi ◽  
Giacoma Di Vieste ◽  
Francesco Corrado ◽  
Giuseppe Lucisano ◽  
Fabio Pellegrini ◽  
...  

ObjectiveThis study aimed to assess the predictive value of risk factors (RFs) for gestational diabetes mellitus (GDM) established by selective screening (SS) and to identify subgroups of women at a higher risk of developing GDM.DesignA retrospective, single-center study design was employed.MethodsData of 1015 women screened for GDM at 24–28 weeks of gestation and diagnosed according to the International Association of Diabetes and Pregnancy Study Groups criteria were evaluated. Information on RFs established by SS was also collected and their association with GDM was determined. To identify distinct and homogeneous subgroups of patients at a higher risk, the RECursive Partitioning and AMalgamation (RECPAM) method was used.ResultsOverall, 113 (11.1%) women were diagnosed as having GDM. The application of the SS criteria would result in the execution of an oral glucose tolerance test (OGTT) in 58.3% of women and 26 (23.0%) cases of GDM would not be detected due to the absence of any RF. The RECPAM analysis identified high-risk subgroups characterized by fasting plasma glucose values >5.1 mmol/l (odds ratio (OR)=26.5; 95% CI 14.3–49.0) and pre-pregnancy BMI (OR=7.0; 95% CI 3.9–12.8 for overweight women). In a final logistic model including RECPAM classes, previous macrosomia (OR=3.6; 95% CI 1.1–11.6), and family history of diabetes (OR=1.8; 95% CI 1.1–2.8), but not maternal age, were also found to be associated with an increased risk of developing GDM. A screening approach based on the RECPAM model would reduce by over 50% (23.0 vs 10.6%) the number of undiagnosed GDM cases when compared with the current SS approach, at the expense of 50 additional OGTTs required.ConclusionsA screening approach based on our RECPAM model results in a significant reduction in the number of undetected GDM cases compared with the current SS procedure.


2010 ◽  
Vol 9 ◽  
pp. S82
Author(s):  
J.C. Burgess ◽  
J. Hooper ◽  
M.E. Hodson ◽  
N.J. Simmonds

2006 ◽  
Vol 39 (21) ◽  
pp. 52
Author(s):  
MARY ANN MOON
Keyword(s):  

2019 ◽  
Author(s):  
A Gavrić ◽  
L Rivero Sanchez ◽  
C Arnau ◽  
J Herrero ◽  
D Remedios ◽  
...  
Keyword(s):  

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