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    GENE:

    PMS2 (PMS1 protein homolog 2)

    i
    Other names: PMS2, PMS1 Homolog 2, Mismatch Repair System Component, PMS1 Homolog 2, Mismatch Repair Protein, Mismatch Repair Endonuclease PMS2, DNA Mismatch Repair Protein PMS2, PMS1 Protein Homolog 2, PMSL2, PMS2 Postmeiotic Segregation Increased 2, Postmeiotic Segregation Increased 2 Nirs Variant 6, PMS2 Postmeiotic Segregation Increased 2, HNPCC4, PMS2CL, MLH4
    4d
    Challenges in Diagnosing Isolated Rib Metastasis From Low-Grade Endometrial Carcinoma: Utility of USG-FNAC and Molecular Characterisation. (PubMed, Cytopathology)
    This case demonstrates the diagnostic value of USG-FNAC as a reliable and safe method for confirming metastasis in anatomically challenging locations. Additionally, it emphasises the importance of incorporating molecular profiling and recognising histological features such as squamous differentiation and MELF patterns as markers of aggressive behaviour in a subset of low-to-intermediate grade EC.
    Journal • IO biomarker
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    MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR • TP53 wild-type
    6d
    Recurrent Distant Metastatic Endometrial Cancer Treated with Immunotherapy with Pembrolizumab: A Case Report and Literature Review. (PubMed, Diagnostics (Basel))
    Genetic testing confirmed sensitivity to dostarlimab-gxly and pembrolizumab, leading to the initiation of pembrolizumab (200 mg Q3W) and lenvatinib (20 mg QD) in June 2024 after spine surgery. We present a 57-year-old female patient initially diagnosed with FIGO Stage 2 EC, who subsequently developed distant metastases and was restaged as FIGO Stage 4B recurrent disease. The management of this patient illustrates the multimodal treatment approach and the critical role of molecular subtyping in guiding immunotherapeutic strategies for recurrent advanced EC.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    PMS2 (PMS1 protein homolog 2)
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    Keytruda (pembrolizumab) • Lenvima (lenvatinib) • Jemperli (dostarlimab-gxly)
    6d
    Clinicopathologic Study of 39 Mismatch Repair-deficient Sarcomas Demonstrates Recurrent Histologic Patterns and Supports Universal Screening of Pleomorphic Rhabdomyosarcoma, Uterine Leiomyosarcoma, and Undifferentiated and Unclassified Sarcomas. (PubMed, Am J Surg Pathol)
    Histologic subtyping of unclassified sarcomas predicted prognosis and therapeutic response. We propose universal MMR IHC screening of (1) PRMS, (2) uterine LMS, (3) unclassified/UPS, and (4) any sarcoma in a patient with a personal or family history of Lynch syndrome.
    Journal • Mismatch repair • MSi-H Biomarker • IO biomarker • dMMR
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR
    6d
    KRAS/NRAS/BRAF Mutations and Mismatch Repair Deficiency in Patients with Early-Onset Colorectal Cancer: A Clinicopathological Analysis. (PubMed, Int J Surg Pathol)
    KRAS mutations were more frequent in dMMR tumors than in MMR-proficient tumors (63.8% vs 40.8%).ConclusionGenetic mutations in the RAS/RAF pathway and dMMR status are associated with distinct clinicopathological features in patients with early-onset CRC. dMMR is a potentially favorable prognostic marker.
    Journal • Mismatch repair
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    BRAF V600E • KRAS mutation • MSI-H/dMMR • BRAF mutation • NRAS mutation • BRAF V600 • KIT mutation • RAS mutation
    7d
    Pancreatic Neuroendocrine Tumor in Lynch Syndrome: Expanding the Tumor Spectrum of Mismatch Repair Deficiency. (PubMed, Cureus)
    The patient was treated with capecitabine and temozolomide (CAPTEM) chemotherapy, pembrolizumab, long-acting repeatable octreotide (octreotide LAR), and diazoxide for hypoglycemia management. This case highlights the expanding phenotypic spectrum of Lynch syndrome and suggests that P-NETs may represent a rare but clinically significant manifestation. Early recognition of this association supports comprehensive genetic testing, enables the use of precision immunotherapy, and underscores the need for expanded surveillance strategies in patients with atypical tumor profiles.
    Journal • Mismatch repair • PD(L)-1 Biomarker • IO biomarker
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    MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2)
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    Keytruda (pembrolizumab) • temozolomide • capecitabine • octreotide acetate
    11d
    Microsatellite status and minimal microsatellite shift in atypical endometrial hyperplasia and endometrial cancer: an analysis of 848 cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
    Minimal microsatellite shift is commonly detected in MSI-H cases, and some cases are difficult to interpret due to their classification within the equivocal range. Increasing the number of microsatellite loci, combined with visualization graph comparison and integration of mismatch repair protein immunophenotype and histological features, can effectively improve the accuracy of MSI-H interpretation.
    Journal • MSi-H Biomarker
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    MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR • POLE mutation
    13d
    Management of locally advanced lynch syndrome rectal cancer during pregnancy with neoadjuvant immunochemotherapy: a case report. (PubMed, Front Oncol)
    The patient subsequently underwent neoadjuvant chemoradiotherapy (50.4 Gy in 28 fractions) combined with two cycles of capecitabine plus oxaliplatin (CapeOx) and tislelizumab, achieving significant tumor regression (yT2N0M0). LS-associated rectal cancer during pregnancy requires individualized, multidisciplinary management. Medical termination followed by neoadjuvant immunochemoradiotherapy can optimize maternal outcomes while minimizing fetal and genetic risks.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    Tevimbra (tislelizumab-jsgr) • capecitabine • oxaliplatin
    14d
    Integrated tumor and germline profiling of lynch syndrome in a North Indian cohort. (PubMed, Front Oncol)
    Germline testing helps identify probands and FDRs who are healthy mutation carriers. Risk-reduction strategies for them can help reduce the risk of CRC in the Indian population.
    Journal
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    15d
    Associations between molecular classification and response to intra-uterine levonorgestrel device therapy in patients with medically managed endometrial cancer and endometrial intra-epithelial neoplasia: a multi-center Endometrial Cancer Molecularly Targeted Therapy (ECMT2) Consortium study. (PubMed, Int J Gynecol Cancer)
    The complete response to levonorgestrel intra-uterine device therapy was lower than expected for endometrial intra-epithelial neoplasia. Response rates varied by molecular classification, with worse outcomes observed in deficient mismatch repair and p53 abnormal sub-types. Although limited by sample size, these findings suggest that levonorgestrel intra-uterine device therapy may not be sufficient for all molecular sub-groups.
    Journal
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    TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR • TP53 wild-type • POLE mutation
    15d
    Case Report: gastric signet-ring-cell adenocarcinoma in a young adult with tracheoesophageal fistula/esophageal atresia and complex gastrointestinal history. (PubMed, Front Oncol)
    This case highlights the interplay of congenital foregut anomalies, chronic inflammation, and SRC development, and underscores the critical importance of meticulous biopsy handling and personalized endoscopic care. Tailored surveillance may be appropriate in select early-stage SRC cases where localization is uncertain and imaging is negative.
    Journal
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    TP53 (Tumor protein P53) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CTNNA1 (Catenin Alpha 1)
    15d
    Germline Predisposition in Pediatric Central Nervous System Tumors: Insights from a Multigene Panel Study. (PubMed, Oncol Res)
    Germline P/LP mutations were identified in 15.7% of Korean children and AYAs with CNS tumors, most commonly in gliomas and other CNS tumors. Our findings highlight the molecular heterogeneity of germline predisposition in CNS tumors and emphasize the importance of germline testing for risk assessment and surveillance.
    Journal
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    TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • MUTYH (MutY homolog) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M)
    15d
    Communication With Clinicians and Relatives About Cascade Genetic Testing in Cancer Patients With Germline Pathogenic Variants. (PubMed, JCO Precis Oncol)
    Patients with cancer are motivated to communicate PV results to relatives. However, few clinicians are involved and relatives' testing remains low. Novel care delivery models are needed to advance cascade testing and precision risk reduction.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)