Lynch Syndrome (LS) prevalence in underrepresented minorities are lacking. The objective of this study was to assess the prevalence of LS in a minority patient population. Secondary objectives included identifying factors associated with successful LS screening and to characterize clinicopathologic features. Women with endometrial cancer treated within a university system from 2014 and 2016 were included. Immunohistochemistry (IHC) results of MLH1, PMS2, MSH2 and MSH6 were obtained from medical records and clinicopathologic factors abstracted. Patients not previously screened for LS were screened. 276 patients were evaluable. More minority women were screened as part of their routine cancer care (p = 0.005). Additionally, women 50 years or younger were more likely to be screened for LS compared to women older than 51(p = 0.009) and uninsured or reliant on Medicaid patients (p = 0.011) were more likely to be screened during routine care. Six patients received confirmatory germline testing for LS (4.3%), and another 8 patients had a staining pattern suggestive of LS. In an underrepresented population, the rate of LS in endometrial cancer is similar to previous reports. LS may be under diagnosed and opportunities missed when universal screening is not applied in minority women.
Background: Platinum-based chemotherapies such as cisplatin and carboplatin alone or in combination with other agents are the most effective pharmacological treatment for high-grade serous ovarian cancer. Nucleotide excision repair (NER) is the biological process that recognizes DNA that has been damaged by platinum therapies and triggers apoptosis via XPC and downstream ERCC1. The presence of tumor-infiltrating lymphoctyes (TILs) have been associated with longer survival and high genomewide mutation load in other cancer types. Aims: To determine if a combination of ERCC1, XPC and TILs would be strong biomarkers of platinum response in HGSOC tissue collected after neoadjuvant platinum chemotherapy. Methods: A total of 115 high-grade serous ovarian cancer Formalin Fixed Paraffin Embedded (FFPE) tissue samples were sequentially collected from 2000 to 2015 from Pathology NORTH, NSW Australia. Twenty-three received neoadjuvant chemotherapy and the remaining 92 received adjuvant chemotherapy. Full face sections of FFPE tissue blocks were used for immunohistochemistry analysis of ERCC1 and XPC. Staining intensity from 0 to 3, percentage of cells stained and localization of staining was assessed by an independent pathologist or researcher for ERCC1 and XPC. TILs were scored from 0 to 3 ranging from absent to marked and diffuse. Kaplan-Meier survival curves were produced and stratified by primary treatment (chemotherapy/surgery) with pointwise 95% confidence intervals. P-values from the log-rank and Wilcoxon tests were calculated along with number of subjects at risk. Results:The effect on overall survival observed for ERCC1 staining score in the neoadjuvant chemotherapy group was significant:Editorial material and organization c Analysis of XPC staining score found no significant difference in chemotherapy versus surgery as primary treatment groups. There was a trend toward cytoplasmic localization of XPC in HGSOC with absent or low ERCC1, indicating that incorrect localization of XPC may contribute to low ERCC1. TILs scores alone were not predictive of overall survival; however, the association of TILs and ERCC1 expression was not able to be determined.Conclusions: ERCC1 was identified as a biomarker of platinum response in neoadjuvant HGSOC. There is potential that localization of XPC and presence of TILs will further add accuracy to assess this biomarker combination in future studies.Translational Aspect: This is a T1 study that will translate straight into T2 with the completion of a larger cohort.Background: Acute myeloid leukaemia (AML) has a poor prognosis, with a 5-year survival 23.6%. Current therapies are effective at inducing remission; however, two-thirds of patients relapse, highlighting the need to improve treatment. Activity of the protein phosphatase tumorsuppressor, PP2A, is reduced in 78% of AMLs leading to unregulated growth and survival. PP2A reactivating drugs have been developed (FTY720 and AAL(S)); however, their mechanisms of action remain poorly understood. We have identified a novel protein tar...
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