دورية أكاديمية

Outcomes of 10 years of PSA screening for prostate cancer in Norwegian men with Lynch syndrome.

التفاصيل البيبلوغرافية
العنوان: Outcomes of 10 years of PSA screening for prostate cancer in Norwegian men with Lynch syndrome.
المؤلفون: Grindedal EM; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Zucknick M; Department of Biostatistics, Oslo Centre for Biostatistics and Epidemiology, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway., Stormorken A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Rønne E; Department of Pathology, St. Olav's Hospital, Trondheim University Hospital, Trondheim, Norway., Tandstad NM; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Isaacs WB; Brady Urological Institute, Johns Hopkins Medicine, Baltimore, Maryland, USA., Axcrona K; Department of Urology, Akershus University Hospital, Lørenskog, Norway.; Department of Molecular Oncology, Institute of Cancer Research, Oslo University Hospital-Radiumhospitalet, Oslo, Norway., Mæhle L; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.
المصدر: The Prostate [Prostate] 2024 Jul; Vol. 84 (10), pp. 945-953. Date of Electronic Publication: 2024 Apr 17.
نوع المنشور: Journal Article; Observational Study
اللغة: English
بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8101368 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0045 (Electronic) Linking ISSN: 02704137 NLM ISO Abbreviation: Prostate Subsets: MEDLINE
أسماء مطبوعة: Publication: <2005-> : Hoboken, NJ : Wiley-Liss
Original Publication: New York : Alan R. Liss, c1980-
مواضيع طبية MeSH: Prostatic Neoplasms*/genetics , Prostatic Neoplasms*/diagnosis , Prostatic Neoplasms*/epidemiology , Prostatic Neoplasms*/pathology , Prostatic Neoplasms*/blood , Prostate-Specific Antigen*/blood , Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis*/diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis*/epidemiology , Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology , Early Detection of Cancer*/methods, Humans ; Male ; Norway/epidemiology ; Middle Aged ; Prospective Studies ; Aged ; Adult ; MutS Homolog 2 Protein/genetics ; Incidence ; DNA Mismatch Repair/genetics ; Neoplasm Grading ; DNA-Binding Proteins/genetics
مستخلص: Background: Pathogenic germline variants in the mismatch repair (MMR) genes are associated with an increased risk of prostate cancer (PCa). Since 2010 we have recommended MMR carriers annual PSA testing from the age of 40. Prospective studies of the outcome of long-term PSA screening are lacking. This study aimed to investigate the incidence and characteristics of PCa in Norwegian MMR carriers attending annual PSA screening (PSA threshold >3.0 ng/mL) to evaluate whether our recommendations should be continued.
Methods: This is a prospective observational study of 225 male MMR carriers who were recommended annual PSA screening by the Section of Inherited Cancer, Oslo University Hospital from 2010 and onwards. Incidence and tumor characteristics (age, PSA at diagnosis, Gleason score, TNM score) were described. IHC and MSI-analyses were done on available tumors. Standardized incidence ratio (SIR) was calculated based on data from the Cancer Registry of Norway.
Results: Twenty-two of 225 (9.8%) had been diagnosed with PCa, including 10/69 (14.5%) MSH2 carriers and 8/61 (13.1%) MSH6 carriers. Ten of 20 (50%) tumors had Gleason score ≥4 + 3 on biopsy and 6/11 (54.5%) had a pathological T3a/b stage. Eight of 17 (47.1%) tumors showed abnormal staining on IHC and 3/13 (23.1%) were MSI-high. SIR was 9.54 (95% CI 5.98-14.45) for all MMR genes, 13.0 (95% CI 6.23-23.9) for MSH2 and 13.74 for MSH6 (95% CI 5.93-27.08).
Conclusions: Our results indicate that the MMR genes, and especially MSH2 and MSH6, are associated with a significant risk of PCa, and a high number of tumors show aggressive characteristics. While the impact of screening on patient outcomes remains to be more firmly established, the high SIR values we observe provide support for continued PSA screening of MSH2 and MSH6 carriers. Studies are needed to provide optimal recommendations for PSA-threshold and to evaluate whether MLH1 and PMS2 carriers should not be recommended screening.
(© 2024 The Authors. The Prostate published by Wiley Periodicals LLC.)
References: Grindedal EM, Møller P, Eeles R, et al. Germ‐line mutations in mismatch repair genes associated with prostate cancer. Cancer Epidemiol Biomarkers Prev. 2009;18:2460‐2467.
Rosty C, Walsh MD, Lindor NM, et al. High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. Fam Cancer. 2014;13:573‐582.
Møller P, Seppälä TT, Bernstein I, et al. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the prospective Lynch syndrome database. Gut. 2018;67:1306‐1316.
Raymond VM, Mukherjee B, Wang F, et al. Elevated risk of prostate cancer among men with Lynch syndrome. J Clin Oncol. 2013;31:1713‐1718.
Win AK, Lindor NM, Young JP, et al. Risks of primary extracolonic cancers following colorectal cancer in Lynch syndrome. J Natl Cancer Inst. 2012;104:1363‐1372.
Therkildsen C, Ladelund S, Smith‐Hansen L, Lindberg LJ, Nilbert M. Towards gene‐ and gender‐based risk estimates in Lynch syndrome; age‐specific incidences for 13 extra‐colorectal cancer types. Br J Cancer. 2017;117:1702‐1710.
Haraldsdottir S, Hampel H, Wei L, et al. Prostate cancer incidence in males with Lynch syndrome. Genet Med. 2014;16:553‐557.
Engel C, Loeffler M, Steinke V, et al. Risks of less common cancers in proven mutation carriers with Lynch syndrome. J Clin Oncol. 2012;30:4409‐4415.
Goecke T, Schulmann K, Engel C, et al. Genotype‐phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC consortium. J Clin Oncol. 2006;24:4285‐4292.
Dominguez‐Valentin M, Joost P, Therkildsen C, Jonsson M, Rambech E, Nilbert M. Frequent mismatch‐repair defects link prostate cancer to Lynch syndrome. BMC Urol. 2016;16:15.
Bancroft EK, Page EC, Brook MN, et al. A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study. Lancet Oncol. 2021;22(11):1618‐1631.
Loeb S, Bjurlin MA, Nicholson J, et al. Overdiagnosis and overtreatment of prostate cancer. Eur Urol. 2014;65:1046‐1055.
Aus G, Bergdahl S, Lodding P, Lilja H, Hugosson J. Prostate cancer screening decreases the absolute risk of being diagnosed with advanced prostate cancer–results from a prospective, population‐based randomized controlled trial. Eur Urol. 2007;51:659‐664.
Page EC, Bancroft EK, Brook MN, et al. Interim results from the IMPACT study: evidence for prostate‐specific antigen screening in BRCA2 mutation carriers. Eur Urol. 2019;76:831‐842.
Grindedal EM, Aarset H, Bjørnevoll I, et al. The Norwegian PMS2 founder mutation c.989‐1G > T shows high penetrance of microsatellite instable cancers with normal immunohistochemistry. Hereditary Cancer Clin Pract. 2014;12(1):12.
Boumehdi AL, Cherbal F, Khider F, et al. Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: the first nationwide study. Ann Hum Genet. 2022;86(6):328‐352.
Stormorken AT. The inframe MSH2 codon 596 deletion is linked with HNPCC and associated with lack of MSH2 protein in tumours. Fam Cancer. 2003;2(1):9‐13.
Mangold E, Pagenstecher C, Friedl W, et al. Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. Int J Cancer. 2005;116(5):692‐702.
Win AK, Dowty JG, Reece JC, et al. International Mismatch Repair Consortium. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. Lancet Oncol. 2021;22(7):1014‐1022.
https://ec.europa.eu/commission/presscorner/detail/en/ip&#95;22&#95;7548.
Latham A, Srinivasan P, Kemel Y, et al. Microsatellite instability is associated with the presence of Lynch syndrome pan‐cancer. J Clin Oncol. 2019;37:286‐295.
Cortes‐Ciriano I, Lee S, Park WY, Kim TM, Park PJ. A molecular portrait of microsatellite instability across multiple cancers. Nat Commun. 2017;8:15180.
Hause RJ, Pritchard CC, Shendure J, Salipante SJ. Classification and characterization of microsatellite instability across 18 cancer types. Nature Med. 2016;22(11):1342‐1350.
Shia J. The diversity of tumours with microsatellite instability: molecular mechanisms and impact upon microsatellite instability testing and mismatch repair protein immunohistochemistry. Histopathology. 2021;78(4):485‐497.
Nourmohammadi Abadchi S, Sena LA, Antonarakis ES, et al. MLH1 loss in primary prostate cancer. JCO Precis Oncol. 2023;7:e2200611.
Abida W, Cheng ML, Armenia J, et al. Analysis of the prevalence of microsatellite instability in prostate cancer and response to immune checkpoint blockade. JAMA Oncology. 2019;5(4):471‐478.
Wang C, Zhang L, Vakiani E, Shia J. Detecting mismatch repair deficiency in solid neoplasms: immunohistochemistry, microsatellite instability, or both? Mod Pathol. 2022;35(11):1515‐1528.
فهرسة مساهمة: Keywords: Lynch syndrome; MMR; PSA; early detection; prospective; prostate cancer
المشرفين على المادة: EC 3.4.21.77 (Prostate-Specific Antigen)
EC 3.6.1.3 (MutS Homolog 2 Protein)
EC 3.6.1.3 (MSH2 protein, human)
0 (G-T mismatch-binding protein)
0 (DNA-Binding Proteins)
تواريخ الأحداث: Date Created: 20240417 Date Completed: 20240603 Latest Revision: 20240717
رمز التحديث: 20240717
DOI: 10.1002/pros.24711
PMID: 38629217
قاعدة البيانات: MEDLINE
الوصف
تدمد:1097-0045
DOI:10.1002/pros.24711