scholarly journals Amsterdam Criteria

2020 ◽  
Author(s):  
Keyword(s):  
Amsterdam Criteria

scholarly journals Cumulative risks of colorectal cancer in Han Chinese patients with Lynch syndrome in Taiwan

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Abram Bunya Kamiza ◽  
Wen-Chang Wang ◽  
Jeng-Fu You ◽  
Reiping Tang ◽  
Huei-Tzu Chien ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Cumulative Risk ◽  
Germline Mutations ◽  
Han Chinese ◽  
Chinese Patients ◽  
Mutation Carriers ◽  
Amsterdam Criteria ◽  
Cumulative Risks ◽  
Age And Sex

AbstractPatients with Lynch syndrome have a high risk of colorectal cancer (CRC). In this study, we estimated the age- and sex-specific cumulative risks of CRC in Han Chinese patients with Lynch syndrome caused by the pathogenic germline mutations in MLH1 or MSH2 in Taiwan. Based on 321 mutation carriers and 419 non-mutation carriers from 75 pedigrees collected in an Amsterdam criteria family registry in Taiwan, the age- and sex-specific cumulative risks of CRC in male carriers of mutation in MLH1 and MSH2 at the age of 70 years were 60.3% (95% confidence interval (CI) = 31.1%–89.9%) and 76.7% (95% CI = 37.2%–99.0%), respectively. For females, the cumulative risks of CRC at the age of 70 were estimated to be 30.6% (95% CI = 14.3%–57.7%) and 49.3% (95% CI = 21.9%–84.5%) in the carriers of MLH1 and MSH2 germline mutations, respectively. In conclusion, the cumulative risks of CRC at the age of 70 in the Han Chinese patients is higher in mutation carriers than non-mutation carriers and male mutation carriers have a higher cumulative risk of developing CRC than the female mutation carriers.

scholarly journals Placental Complement Activation in Fetal and Neonatal Alloimmune Thrombocytopenia: An Observational Study

2021 ◽  
Vol 22 (13) ◽  
pp. 6763
Author(s):  
Thijs W. de Vos ◽  
Dian Winkelhorst ◽  
Hans J. Baelde ◽  
Kyra L. Dijkstra ◽  
Rianne D. M. van Bergen ◽  
...  
Keyword(s):  
Complement Activation ◽  
Histopathological Examination ◽  
Hla Class I ◽  
Unknown Etiology ◽  
Low Grade ◽  
Classical Pathway ◽  
Newly Diagnosed ◽  
Activation Markers ◽  
Amsterdam Criteria ◽  
Alloimmune Thrombocytopenia

Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a disease that causes thrombocytopenia and a risk of bleeding in the (unborn) child that result from maternal alloantibodies directed against fetal, paternally inherited, human platelet antigens (HPA). It is hypothesized that these alloantibodies can also bind to the placenta, causing placental damage. This study aims to explore signs of antibody-mediated placental damage in FNAIT. We performed a retrospective study that included pregnant women, their newborns, and placentas. It comprised 23 FNAIT cases, of which nine were newly diagnosed (14 samples) and 14 were antenatally treated with intravenous immune globulins (IVIg) (21 samples), and 20 controls, of which 10 had anti-HLA-class I antibodies. Clinical information was collected from medical records. Placental samples were stained for complement activation markers (C1q, C4d, SC5b-9, and mannose-binding lectin) using immunohistochemistry. Histopathology was examined according to the Amsterdam criteria. A higher degree of C4d deposition was present in the newly diagnosed FNAIT cases (10/14 samples), as compared to the IVIg-treated FNAIT cases (2/21 samples, p = 0.002) and anti-HLA-negative controls (3/20 samples, p = 0.006). A histopathological examination showed delayed maturation in four (44%) placentas in the newly diagnosed FNAIT cases, five (36%) in the IVIg-treated FNAIT cases, and one in the controls (NS). C4d deposition at the syncytiotrophoblast was present in combination with low-grade villitis of unknown etiology in three newly diagnosed FNAIT cases that were born SGA. We conclude that a higher degree of classical pathway-induced complement activation is present in placentas from pregnancies with untreated FNAIT. This may affect placental function and fetal growth.

scholarly journals 658 An Audit of Frequency of Cancer Genetics Referral in Patients with a Family History of Colorectal Cancer

2021 ◽  
Vol 108 (Supplement_2) ◽  
Author(s):  
M Abbakar ◽  
T James ◽  
P Boxall ◽  
M Lim
Keyword(s):  
Family History ◽  
High Risk ◽  
Hereditary Cancer ◽  
Risk Category ◽  
Average Risk ◽  
Insufficient Data ◽  
High Risk Patients ◽  
Amsterdam Criteria ◽  
Family History Questionnaire ◽  
Risk Patients

Abstract Introduction Guidelines on the management of hereditary colorectal cancers were updated in 2019. In this study, data from patients within the colonoscopy surveillance programme for hereditary cancer at York Teaching Hospitals Trust were analysed to assess category of risk and appropriateness of referrals to regional geneticists. Method After examination of electronic records and clinical notes, patients were assigned a risk category of average, moderate or high according to the Amsterdam criteria and latest BSG/ACPGBI/UKCGG guidelines. Patients were then assessed to see if a concurrent referral had been made to the regional cancer genetic services. Results There were 228 patients. 72(31.6%) patients were in the average, 81(35.5%) in the moderate and 41(18%) were in the high-risk category. 34 (14.9%) patients with insufficient data and/or assessments were in the indeterminate category. 18 of 72 (25%) patients with average risk were unnecessarily referred to the regional genetics team, while 5/41(12%) of high-risk patients were not. A large proportion of patients with insufficient data (19/34, 55.8%) were rightly or wrongly, referred to the regional genetics team. Conclusions Assessment of hereditary cancer risk is difficult in the absence of good quality information. Risk assessment may be improved with use of a dedicated family history questionnaire/template - this facilitates identification of high-risk patients that benefit most from referral to geneticists.

Genetic testing is important in families with a history suggestive of hereditary non-polyposis colorectal cancer even if the Amsterdam criteria are not fulfilled

1997 ◽  
Vol 84 (2) ◽  
pp. 233-237 ◽  
Author(s):  
N. E. Beck ◽  
I. P. M. Tomlinson ◽  
T. Homfray ◽  
S. V. Hodgson ◽  
C. J. Harocopos ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Amsterdam Criteria

PHENOTYPIC CHARACTERISTICS OF HEREDITARY NON-POLYPOSIS COLORECTAL CANCER BY THE AMSTERDAM CRITERIA: AN ASIAN PERSPECTIVE

2008 ◽  
Vol 78 (7) ◽  
pp. 556-560 ◽  
Author(s):  
Min-Hoe Chew ◽  
Poh-Koon Koh ◽  
Kheng-Hong Ng ◽  
Jit-Fong Lim ◽  
Kok-Sun Ho ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Phenotypic Characteristics ◽  
Amsterdam Criteria

scholarly journals Performance of tumor testing for Lynch syndrome identification in patients with colorectal cancer: A retrospective single-center study

2018 ◽  
Vol 105 (1) ◽  
pp. 76-83 ◽  
Author(s):  
Stefano Signoroni ◽  
Maria Grazia Tibiletti ◽  
Maria Teresa Ricci ◽  
Massimo Milione ◽  
Federica Perrone ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Lynch Syndrome ◽  
Characteristic Curve ◽  
Age At Onset ◽  
Area Under The Curve ◽  
Single Center ◽  
Germline Variants ◽  
Amsterdam Criteria ◽  
Clinicopathologic Parameters ◽  
Msi Analysis

Objective: To investigate the performance of tumor testing approaches in the identification of Lynch syndrome (LS) in a single-center cohort of people with colorectal cancer (CRC). Methods: A retrospective analysis of data stored in a dedicated database was carried out to identify patients with CRC suspected for LS who were referred to Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy, between 1999 and 2014. The sensitivity and specificity of immunohistochemistry (IHC) for mismatch repair (MMR) proteins and microsatellite instability (MSI) analysis (alone or combined) were calculated with respect to the presence of causative MMR germline variants. Results: A total of 683 patients with CRC suspected for LS were identified. IHC results of MMR protein analysis and MSI were assessed in 593 and 525 CRCs, respectively, while germline analysis was performed in 418 patients based on the IHC or MSI test result and/or clinical features. Univariate and multivariate analysis revealed a significant correlation of pathogenic MMR germline variants with all clinicopathologic features including Amsterdam criteria, presence of endometrial cancer, CRC site, age at onset, stage, and grade. The highest odds ratio values were observed for IHC and MSI (17.1 and 8.8, respectively). The receiver operating characteristic curve and area under the curve values demonstrated that IHC alone or combined with other clinicopathologic parameters was an excellent test for LS identification. Conclusions: This study confirms the effectiveness of tumor testing to identify LS among patients with CRC. Although IHC and MSI analysis were similarly effective, IHC could be a better strategy for LS identification as it is less expensive and more feasible.

P–406 Placental histopathology is different in specific subsets of ICSI singleton pregnancies with programmed cycles : a prospective study

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
M Varma ◽  
S Singh ◽  
R Tangri ◽  
H Tuli ◽  
R Kumar ◽  
...  
Keyword(s):  
Birth Weight ◽  
Embryo Transfer ◽  
Placental Weight ◽  
Inflammatory Lesions ◽  
Amsterdam Criteria ◽  
Number Of Patients ◽  
Increased Risk ◽  
Tertiary Center ◽  
P 16 ◽  
Singleton Pregnancies

Abstract Study question Does embryo vitrification or donor oocytes (DO) alter the histopathology of the placenta in ICSI singleton pregnancies with similar endometrial preparation? Summary answer Placentas from programmed cycles had significantly more immune/idiopathic-inflammation with vitrified-thawed embryos versus fresh transfer and significantly more maternal vascular-malperfusion(MVM) in DO versus autologous oocyte(AO) pregnancies. What is known already DO pregnancies and frozen embryo transfer(FET) pregnancies with programmed cycles are associated with hypertensive complications. As these complications are linked with abnormal placentation, comparing the placental histopathology in these pregnancies may point to a causative association. Studies of placental histopathology in DO in comparison to AO pregnancies show a dysregulated immune process and vasculopathy. The hormonal milieu during implantation remains an important confounder. Placental histopathology in fresh/ frozen cycles has recently shown variable results. To isolate the effect of embryo vitrification on placental histopathology, the donor oocyte model can provide valuable data, which till now is scarcely available. Study design, size, duration A prospective cohort study conducted in a tertiary center from 2018–2020. Placental histopathology, pregnancy-outcomes were studied in 116 ICSI singleton pregnancies≥28 weeks. Group1-Pregnancies with DO, by FET(n = 32) and freshET(n = 34) were compared to study the effect of embryo-vitrification. Group2-Pregnancies by DO FET(n = 32) were compared to AO FET(n = 50) to study the effect of DO. All patients had ICSI, cleavage embryo-transfer, programmed cycles and delivered at the same institute. The placentas were examined by pathologists (blinded to the ET type). Participants/materials, setting, methods 116 singleton pregnancies were followed for hypertensive disorders of pregnancy (HDP), preterm delivery(PTD<37weeks) and low birth-weight (LBW<2.5kg). Placentas were examined for cord mal-insertions Placental histopathology lesions were classified into 4 groups according to ‘Amsterdam criteria’ infectious-inflammatory, immune/ idiopathic-inflammatory, MVM, fetal vascular malperfusion (FVM). Chi-square and t-tests were used to compare outcomes across groups. Adjusted odds ratio were calculated using logistic regression. Statistical significance set at P <.05, two-tailed. Main results and the role of chance No patient had a history of chronic hypertension/smoking. Group 1 Patients conceived by DO, with FET and freshET were comparable with regards to age (34.1 vs 36.4years, P=.07),BMI(26.7 vs 27.1 kg/m2,P=.6),nulliparity(81%vs82%,P=.9) HDP(25%vs29.4%,P=0.69),birth-weight(2.48 vs 2.47kg,P=.93) LBW(31.3%vs41.2%,P=.41)respectively PTD was significantly less in donor FET versus donor freshET (6.3%vs47.1%P=.0002) Placental weight and cord mal-insertions were comparable for FET vs freshET (466 vs 486gms P=.03 12.5%vs23.5% P=.25)respectively. Amongst the placental histopathology lesions, immune/ idiopathic-inflammatory lesions were significantly more in the FET vs freshET group (37.5% vs 11.8%,P=.02)The other lesions were comparable infectious-inflammatory(6.3%vs17.6%,P=.16), MVM(75%vs58.8%, P=.16),FVM(18.8%vs17.6%,P=.9) Group 2 Patients conceived by DO compared to AO by FET were significantly older and had a higher BMI (34.1vs31.7years,P=.02 ,26.7vs25.5 kg/m2,P=.002) respectively. Nulliparity was comparable(81%vs92%,P=.15) Birth weight was significantly less in DO vs AO(2.4vs2.7kg,P=.02) HDP and LBW were significantly more in DO vs AO(25%vs8% ,P=.03, 31.3%vs 8%,P=.007),respectively. PTD was comparable(6.3%vs8.0%,P=.77). Placental weight was significantly less in DO vs AO (466 vs 513gms,P=.03) cord mal-insertions were comparable(12.5% vs 24%,P=.2) The MVM lesions were significantly more in the DO group compared to AO(75% vs 40%,P=.002) The difference remained after adjusting for age/BMI/HDP (AOR 4.31;95% CI 1.24–14.8;P=.02). The rest of placental lesions were comparable in DO vs AO, infectious-inflammatory lesions(6.3%vs16%,P=.19) immune/idiopathic-inflammatory lesions(37.5%vs28%,P=.37) FVM(18.8% vs 12%,P=.4)respectively. Limitations, reasons for caution These findings are based on a small number of patients. The results observed need to be confirmed using a larger study sample. Wider implications of the findings: Placentas in pregnancies by embryo-vitrification, in a DO-model, had significantly more immune/idiopathic-inflammation, the cause/significance of this needs to be explored. Placentas in DO-pregnancies had significantly more MVM-lesions and increased risk of HDP, emphasizing the clinical/histopathological link of DO with HDP and the need for counselling/preventive strategies for HDP in DO-pregnancie. Trial registration number Not applicable

Immunohistochemistry Identifies Carriers of Mismatch Repair Gene Defects Causing Hereditary Nonpolyposis Colorectal Cancer

2005 ◽  
Vol 23 (21) ◽  
pp. 4705-4712 ◽  
Author(s):  
Astrid T. Stormorken ◽  
Inger Marie Bowitz-Lothe ◽  
Tove Norèn ◽  
Elin Kure ◽  
Steinar Aase ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Mismatch Repair ◽  
Hereditary Nonpolyposis Colorectal Cancer ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Predictive Values ◽  
Blood Samples ◽  
Bethesda Criteria ◽  
Amsterdam Criteria ◽  
Hereditary Nonpolyposis

Purpose Hereditary nonpolyposis colorectal cancer (HNPCC) may be caused by mutations in mismatch repair (MMR) genes. The aim of this study was to validate immunohistochemistry and family history as prescreening tools to predict germline mutations in MLH1, MSH2, and MSH6. Patients and Methods Pedigrees from 250 families were extended, cancer diagnoses were verified, and families were classified according to the Amsterdam and the Bethesda criteria. Tumor specimens were examined with immunohistochemistry for the presence of MLH1, MSH2, and MSH6 proteins. Mutation analyses were performed in blood samples from the same patients. Results Blood samples from affected index persons in 181 families and tumor specimens from 127 of the affected index persons were obtained. Thirty tumors lacked one or more gene products. Sensitivity of immunohistochemistry to detect mutation carriers was 100%, specificity was 82%, and positive predictive value was 85%. Sensitivities, specificities, and positive predictive values for the Amsterdam criteria were 82%, 8%, and 45%, respectively, and for the Bethesda criteria were 100%, 0%, and 48%, respectively. Distribution of mutations was MLH1 = 4, MSH2 = 11, and MSH6 = 4. Conclusion Wide clinical criteria to select HNPCC kindreds, followed by immunohistochemistry of tumor material from one affected person in each family, had high sensitivity and specificity to predict MMR mutations.

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