Cargando…

Exceptional Response to Pembrolizumab in a Mismatch Repair-Deficient Aggressive Prostate Cancer with Somatic EPCAM, MSH2, and MSH6 Co-Deletion: A Case Report

Mismatch repair-deficient (dMMR) prostate cancer (PCa) is a rare (1–5%) but highly actionable molecular subgroup of PCa, vulnerable to immune checkpoint inhibitors. Our case of sporadic dMMR PCa due to large monoallelic co-deletion of EPCAM, MSH2, and MSH6 features a clinically aggressive disease pr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hoch, Dennis, Rabaglio, Manuela, Grob, Tobias, von Gunten, Michael, Beyer, Jörg, Akhoundova, Dilara
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	S. Karger AG 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10622161/ https://www.ncbi.nlm.nih.gov/pubmed/37928863 http://dx.doi.org/10.1159/000534177

Ejemplares similares

Cytoplasmic MSH2 Related to Genomic Deletions in the MSH2/EPCAM Genes in Colorectal Cancer Patients With Suspected Lynch Syndrome
por: Dong, Lin, et al.
Publicado: (2021)

Complete Loss of EPCAM Immunoexpression Identifies EPCAM Deletion Carriers in MSH2-Negative Colorectal Neoplasia
por: Cuatrecasas, Míriam, et al.
Publicado: (2020)

Prerecognition Diffusion Mechanism of Human DNA Mismatch Repair Proteins along DNA: Msh2-Msh3 versus Msh2-Msh6
por: Pal, Arumay, et al.
Publicado: (2020)

Somatic Hypermutation in Muts Homologue (Msh)3-, Msh6-, and Msh3/Msh6-Deficient Mice Reveals a Role for the Msh2–Msh6 Heterodimer in Modulating the Base Substitution Pattern
por: Wiesendanger, Margrit, et al.
Publicado: (2000)

Mismatch Recognition by Saccharomyces cerevisiae Msh2-Msh6: Role of Structure and Dynamics
por: Li, Yan, et al.
Publicado: (2019)

Cadmium inhibits mismatch repair by blocking the ATPase activity of the MSH2–MSH6 complex
por: Banerjee, Sreeparna, et al.
Publicado: (2005)

Cadmium inhibits mismatch repair by blocking the ATPase activity of the MSH2–MSH6 complex
por: Banerjee, Sreeparna, et al.
Publicado: (2005)

Mlh1 interacts with both Msh2 and Msh6 for recruitment during mismatch repair
por: DuPrie, Matthew L., et al.
Publicado: (2022)

Lynch Syndrome-Associated Endometrial Cancer With Combined EPCAM-MSH2 Deletion: A Case Report
por: Huang, Rong, et al.
Publicado: (2022)

A Role for Msh6 But Not Msh3 in Somatic Hypermutation and Class Switch Recombination
por: Martomo, Stella A., et al.
Publicado: (2004)

Immunohistochemical Loss of the DNA Mismatch Repair Proteins MSH2 and MSH6 in Malignant Fibrous Histiocytomas
por: Ericson, Kajsa, et al.
Publicado: (2004)

Characterization and comparative sequence analysis of the DNA mismatch repair MSH2 and MSH7 genes from tomato
por: Tam, Sheh May, et al.
Publicado: (2009)

The properties of Msh2–Msh6 ATP binding mutants suggest a signal amplification mechanism in DNA mismatch repair
por: Graham, William J., et al.
Publicado: (2018)

An Evaluation of the Immunohistochemical Expression of Mismatch Repair Proteins (MSH2, MSH6, MLH1, and PMS2) in Prostate Adenocarcinoma
por: Javeed, Saira, et al.
Publicado: (2022)

Somatic deletions of genes regulating MSH2 protein stability cause DNA mismatch repair deficiency and drug resistance in human leukemia cells
por: Diouf, Barthelemy, et al.
Publicado: (2011)

NPM-ALK mediates phosphorylation of MSH2 at tyrosine 238, creating a functional deficiency in MSH2 and the loss of mismatch repair
por: Bone, K M, et al.
Publicado: (2015)

The mismatch-repair proteins MSH2 and MSH6 interact with the imprinting control regions through the ZFP57-KAP1 complex
por: Acurzio, Basilia, et al.
Publicado: (2022)

Loss or Somatic Mutations of hMSH2 Occur in Hereditary Nonpolyposis Colorectal Cancers with hMSH2 Germline Mutations
por: Lu, Shi‐Long, et al.
Publicado: (1996)

Screening of the DNA mismatch repair genes MLH1, MSH2 and MSH6 in a Greek cohort of Lynch syndrome suspected families
por: Thodi, Georgia, et al.
Publicado: (2010)

Mismatch Repair Proteins and Microsatellite Instability in Colorectal Carcinoma (MLH1, MSH2, MSH6 and PMS2): Histopathological and Immunohistochemical Study
por: Ismael, Nour El Hoda S., et al.
Publicado: (2017)

MSH6 syndrome
por: Suchy, Janina, et al.
Publicado: (2008)

OTUB1 stabilizes mismatch repair protein MSH2 by blocking ubiquitination
por: Wu, Qiong, et al.
Publicado: (2021)

The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers
por: Lawes, D A, et al.
Publicado: (2005)

Parameters of Reserpine Analogs That Induce MSH2/MSH6-Dependent Cytotoxic Response
por: Vasilyeva, Aksana, et al.
Publicado: (2010)

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause
por: Perry, John R.B., et al.
Publicado: (2014)

The Aspergillus fumigatus Mismatch Repair MSH2 Homolog Is Important for Virulence and Azole Resistance
por: dos Reis, Thaila Fernanda, et al.
Publicado: (2019)

Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer
por: Pritchard, Colin C., et al.
Publicado: (2014)

Structural Insights into Saccharomyces cerevisiae Msh4–Msh5 Complex Function Using Homology Modeling
por: Rakshambikai, Ramaswamy, et al.
Publicado: (2013)

Msh4 and Msh5 Function in SC-Independent Chiasma Formation During the Streamlined Meiosis of Tetrahymena
por: Shodhan, Anura, et al.
Publicado: (2014)

Mismatch Repair Protein Msh2 Is Necessary for Macronuclear Stability and Micronuclear Division in Tetrahymena thermophila
por: Wang, Lin, et al.
Publicado: (2023)

MSH2 and MLH1 testing
por: Kurzawski, Grzegorz, et al.
Publicado: (2008)

MutS Homologues hMSH4 and hMSH5: Genetic Variations, Functions, and Implications in Human Diseases
por: Clark, Nicole, et al.
Publicado: (2013)

The Tendency of Having MSH2 and MSH6 Microsatellite Instability among Clinicopathological Features in Patients with Colorectal Cancer
por: Arshita, Neni, et al.
Publicado: (2018)

Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review
por: Xie, Tong, et al.
Publicado: (2021)

Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome
por: Schneider, Nayê Balzan, et al.
Publicado: (2018)

The DNA mismatch repair gene hMSH2 is a potent coactivator of oestrogen receptor α
por: Wada-Hiraike, O, et al.
Publicado: (2005)

Expression of hMSH2 protein of the human DNA mismatch repair system in oral lichen planus
por: Pimenta, Flávio Juliano Garcia Santos, et al.
Publicado: (2004)

Expression of human DNA mismatch-repair protein, hMSH2, in patients with oral lichen planus
por: LI, HAO-BO, et al.
Publicado: (2015)

Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
por: Ling, Chao, et al.
Publicado: (2018)

MSH2–MSH6 stimulates DNA polymerase η, suggesting a role for A:T mutations in antibody genes
por: Wilson, Teresa M., et al.
Publicado: (2005)

Cannot write session to /tmp/vufind_sessions/sess_vttaonphi4rkakmgom8lspucmv