Clinicopathological characteristics, molecular landscape, and biomarker landscape for predicting the efficacy of PD-1/PD-L1 inhibitors in Chinese population with mismatch repair deficient urothelial carcinoma: a real-world study
Urothelial carcinoma (UC) with deficient mismatch repair (dMMR) is a specific subtype of UC characterized by the loss of mismatch repair (MMR) proteins and its association with Lynch syndrome (LS). However, comprehensive real-world data on the incidence, clinicopathological characteristics, molecular landscape, and biomarker landscape for predicting the efficacy of PD-1/PD-L1 inhibitors in the Chinese patients with dMMR UC remains unknown. We analyzed 374 patients with bladder urothelial carcinoma (BUC) and 232 patients with upper tract urothelial carcinoma (UTUC) using tissue microarrays, immunohistochemistry, and targete...
Source: Frontiers in Immunology - November 6, 2023 Category: Allergy & Immunology Source Type: research
Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma
In this study, we present the case of a young patient diagnosed with upper urinary tract urothelial carcinoma, notable for a familial history of diverse malignancies. By employing genetic analysis, we verified the presence of Lynch syndrome within the family and detected novel variants, MSH2 p.A604D and TSC2 p.C738Y, utilizing NGS technology. Subsequently, we conducted validation experiments to assess the pathogenicity of the MSH2 and TSC2 variants. We illustrated that the MSH2 variant can result in diminished MSH2 expression, compromised mismatch repair function, and induce resistance to cisplatin in urothelial carcinoma....
Source: Translational Research : the journal of laboratory and clinical medicine - November 1, 2023 Category: Laboratory Medicine Authors: Mingyang Li Xingjian Yan He Liu Wenhao Miao Wenbo Wu Yuyang Zhao Chungang Wang Haitao Liu Source Type: research
Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma
In this study, we present the case of a young patient diagnosed with upper urinary tract urothelial carcinoma, notable for a familial history of diverse malignancies. By employing genetic analysis, we verified the presence of Lynch syndrome within the family and detected novel variants, MSH2 p.A604D and TSC2 p.C738Y, utilizing NGS technology. Subsequently, we conducted validation experiments to assess the pathogenicity of the MSH2 and TSC2 variants. We illustrated that the MSH2 variant can result in diminished MSH2 expression, compromised mismatch repair function, and induce resistance to cisplatin in urothelial carcinoma....
Source: Translational Research : the journal of laboratory and clinical medicine - November 1, 2023 Category: Laboratory Medicine Authors: Mingyang Li Xingjian Yan He Liu Wenhao Miao Wenbo Wu Yuyang Zhao Chungang Wang Haitao Liu Source Type: research
Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma
In this study, we present the case of a young patient diagnosed with upper urinary tract urothelial carcinoma, notable for a familial history of diverse malignancies. By employing genetic analysis, we verified the presence of Lynch syndrome within the family and detected novel variants, MSH2 p.A604D and TSC2 p.C738Y, utilizing NGS technology. Subsequently, we conducted validation experiments to assess the pathogenicity of the MSH2 and TSC2 variants. We illustrated that the MSH2 variant can result in diminished MSH2 expression, compromised mismatch repair function, and induce resistance to cisplatin in urothelial carcinoma....
Source: Translational Research : the journal of laboratory and clinical medicine - November 1, 2023 Category: Laboratory Medicine Authors: Mingyang Li Xingjian Yan He Liu Wenhao Miao Wenbo Wu Yuyang Zhao Chungang Wang Haitao Liu Source Type: research
Novel MSH2 and TSC2 variants in a Chinese family with Lynch syndrome and their synergistic impact in urothelial carcinoma
In this study, we present the case of a young patient diagnosed with upper urinary tract urothelial carcinoma, notable for a familial history of diverse malignancies. By employing genetic analysis, we verified the presence of Lynch syndrome within the family and detected novel variants, MSH2 p.A604D and TSC2 p.C738Y, utilizing NGS technology. Subsequently, we conducted validation experiments to assess the pathogenicity of the MSH2 and TSC2 variants. We illustrated that the MSH2 variant can result in diminished MSH2 expression, compromised mismatch repair function, and induce resistance to cisplatin in urothelial carcinoma....
Source: Translational Research : the journal of laboratory and clinical medicine - November 1, 2023 Category: Laboratory Medicine Authors: Mingyang Li Xingjian Yan He Liu Wenhao Miao Wenbo Wu Yuyang Zhao Chungang Wang Haitao Liu Source Type: research
104. A hematologic case with germline deletion of PMS2 and increased risk of HNPCC studied by optical genome mapping and NGS
A 23-month-old male with known T-ALL had G-banding finding of monosomy 7 in 13 (59%) of the 22 metaphases analyzed from the bone marrow (BM). This, together with pathologic findings, confirmed the diagnosis of Juvenile myelomonocytic leukemia (infantile monosomy 7 syndrome).BM studies of microsatellites statues and tumor mutational burden showed no findings of therapy or clinical trial options. BM NGS identified gene alterations, including 1) ASXL1-G646fs*12 (NM_015338; 1934_1935insG), with uncertain significance in treatment; and 2) NOTCH1-Q2459fs*18(NM_017617; 73775delC); mutation of the gene commonly seen in T-ALL with ...
Source: Cancer Genetics and Cytogenetics - November 1, 2023 Category: Genetics & Stem Cells Authors: Jie Xu, Melissa Stalling, Mark Steele, Daniel Pettee, Catherine Brownstein, Sarah Ossler, Carrie Costin Source Type: research
Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.ABSTRACTBACKGROUND: Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.METHODS: All patients diagnosed with endometrial cancer in Nova Scotia between ...
Source: cmaj - October 31, 2023 Category: General Medicine Authors: Marianne Levesque Richard Wood Michael D Carter Jo-Ann Brock Katharina Kieser Source Type: research
Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.ABSTRACTBACKGROUND: Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.METHODS: All patients diagnosed with endometrial cancer in Nova Scotia between ...
Source: cmaj - October 31, 2023 Category: General Medicine Authors: Marianne Levesque Richard Wood Michael D Carter Jo-Ann Brock Katharina Kieser Source Type: research
Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.ABSTRACTBACKGROUND: Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.METHODS: All patients diagnosed with endometrial cancer in Nova Scotia between ...
Source: cmaj - October 31, 2023 Category: General Medicine Authors: Marianne Levesque Richard Wood Michael D Carter Jo-Ann Brock Katharina Kieser Source Type: research
Screening and testing practices for Lynch syndrome in Nova Scotians with endometrial cancer: a descriptive study
CMAJ Open. 2023 Oct 31;11(5):E1012-E1019. doi: 10.9778/cmajo.20220136. Print 2023 Sep-Oct.ABSTRACTBACKGROUND: Identifying people with Lynch syndrome, a genetic condition predisposing those affected to colorectal, endometrial and other cancers, allows for implementation of risk-reducing strategies for patients and their families. The goal of this study was to describe screening and testing practices for this condition among people with endometrial cancer in Nova Scotia, Canada, and to determine the prevalence of Lynch syndrome in this population.METHODS: All patients diagnosed with endometrial cancer in Nova Scotia between ...
Source: cmaj - October 31, 2023 Category: General Medicine Authors: Marianne Levesque Richard Wood Michael D Carter Jo-Ann Brock Katharina Kieser Source Type: research
