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Risk Reduction and Screening for Women’s Cancers
Published in James M. Rippe, Lifestyle Medicine, 2019
Ama McKinney, Jo Marie Tran Janco
The Amsterdam criteria are as follows:At least three relatives with Lynch/HNPCC-associated cancer. colon, endometrium, small bowel, renal pelvis, or ureter Of note, not included in this list is stomach, ovary, bladder, brain, or skin.One affected person is a first-degree relative of the other two.At least two successive generations are involved.One person was diagnosed below the age of 55.Familial adenomatous polyposis has been excluded.Tumors have been verified by a pathologist.
Hereditary Colorectal Cancer
Published in Peter Sagar, Andrew G. Hill, Charles H. Knowles, Stefan Post, Willem A. Bemelman, Patricia L. Roberts, Susan Galandiuk, John R.T. Monson, Michael R.B. Keighley, Norman S. Williams, Keighley & Williams’ Surgery of the Anus, Rectum and Colon, 2019
Table 42.10 shows the three main diagnostic techniques available to diagnose LS. A family history compliant with Amsterdam Criteria has a sensitivity of about 50%, but if tumour testing confirms dMMR, then the sensitivity rises significantly. Detection of a deleterious germline mutation in a MMR gene is the ultimate way of making a diagnosis.
Colon, rectum and anus
Published in Michael Gaunt, Tjun Tang, Stewart Walsh, General Surgery Outpatient Decisions, 2018
HNPCC is responsible for 2% of colorectal cancer. It is characterised by early diagnosis of colorectal cancer (approximate age 45, compared with 65 for the general population). HNPCC is diagnosed according to the Amsterdam Criteria II, as follows. At least three relatives should have an HNPCC-associated cancer (colorectal, endometrial, small bowel, ureter, renal pelvis), of whom one should be a first-degree relative of the other two.At least two successive generations should be affected.At least one colorectal cancer should be diagnosed before the age of 50.FAP should be excluded.Tumours should be verified pathologically.
Challenges in diagnosis of polycystic ovary syndrome in adolescence
Published in Gynecological Endocrinology, 2021
Elene Asanidze, Jenaro Kristesashvili, Nino Parunashvili, Natalia Karelishvili, Nana Etsadashvili
Currently, for the diagnosis of PCOS the criteria adopted by the Rotterdam Consensus in 2003 are also used in adolescents [6]. However these criteria do not take into account the peculiarities of adolescent physiology. Different diagnostic criteria for adolescents have been proposed by some authors, but there is still no complete consensus [7,8]. Amsterdam criteria suggests that all three elements of the Rotterdam criteria should be present in adolescents for diagnosis of PCOS [9]. By ESHRE guideline 2018, in adolescents with irregular menstrual cycles and hyperandrogenism, an ovarian ultrasound is not necessary for PCOS diagnosis, because data in young women with age of <8 years after menarche is inadequate, that peak ovarian maturity has not yet been reached and that defining polycystic ovary morphology at this life stage is not currently possible [10]. There was recognition of the risk of overdiagnosis in adolescents if ultrasound criteria were included in this age group, which can also influence an adolescents’ quality of life [11]. ESHRE proposed that for adolescents who have features of PCOS but do not meet diagnostic criteria, an ‘increased risk’ could be considered and reassessment advised at or before full reproductive maturity, 8 years post menarche [10]. This was a strong consensus recommendation and not an evidence-based recommendation, because reliable data regarding longitudinal ovarian morphology was limited.
Testing strategies to reduce morbidity and mortality from Lynch syndrome
Published in Scandinavian Journal of Gastroenterology, 2018
Anne Keränen, Sam Ghazi, Joseph Carlson, Nikos Papadogiannakis, Kristina Lagerstedt-Robinson, Annika Lindblom
Only a fraction of LS colorectal cancer is identified, and many protocols have been designed to predict LS in patients and healthy individuals [4]. The original Amsterdam criteria as well as the Bethesda guidelines predicting LS based on family history, age of onset and tumor morphology were revised to better predict LS [5,6]. Many studies have focused on different models to preselect colorectal cancer (CRC) patients for mutation testing of the LS genes and all work well in predicting mutation carriers [4]. Most Swedish protocols use family history and age of onset for referral of patients for genetic counseling. Thus, the first selection of patients for mutation screening is made by the referring doctors, often surgeons, and therefore only based on age of onset, or family history of cancer.
Therapeutic strategies for upper tract urothelial carcinoma
Published in Expert Review of Anticancer Therapy, 2018
Yuval Freifeld, Laura-Maria Krabbe, Timothy N. Clinton, Solomon L. Woldu, Vitaly Margulis
Initial screening and consideration for further diagnostic tests should be done based on the Bathesda [100] or Amsterdam [101] criteria for HNPCC; however, these criteria offer relatively low sensitivity [102], and may prove to be cumbersome to the urologist. The EAU guidelines suggests that H-UTUC should be suspected in patients fulfilling one of the conditions described in Table 3, those patients should further undergo genetic testing aimed at MSH2, MSH6, or MLH1 mutations to establish the final diagnosis [1]. Another suggested option is sending specimens of all newly diagnosed UTUC patients for MSI testing by polymerase chain reaction (PCR) or immunohistochemistry (IHC) evaluation of MMR proteins [102]. Metcalfe et al. compared different screening options including the Amsterdam criteria, IHC, and MSI PCR, recognizing 13.9% of patients as at risk and eventually 5.2% with confirmed Lynch syndrome, all of which were recognized by a combination of Amsterdam criteria and IHC [103].