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JOURNAL ARTICLE
Eli Marie Grindedal, Manuela Zucknick, Astrid Stormorken, Elin Rønne, Nora M Tandstad, William B Isaacs, Karol Axcrona, Lovise Mæhle
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...
April 17, 2024: Prostate
#2
REVIEW
Andrea Strakova-Peterikova, Maryna Slisarenko, Josef Skopal, Kristyna Pivovarcikova, Tomas Pitra, Mihaela Farcas, Michael Michal, Michal Michal, Kvetoslava Michalova
A syndromic association between a subset of testicular/paratesticular neoplasms is well established. Such examples include Carney complex and large cell calcifying Sertoli cell tumor, Peutz-Jeghers syndrome and intratubular large cell hyalinizing Sertoli cell neoplasia, and VHL syndrome and clear cell papillary cystadenoma of the epididymis.However, recent studies proposed potential novel links between some testicular and paratesticular neoplasms with certain tumor syndromes. While more studies are still needed to solidify these associations, recent research suggests that a subset of Leydig cell tumors may arise in patients with hereditary leiomyomatosis and renal cell carcinoma syndrome or that some seminomas may occur in Lynch syndrome patients...
April 15, 2024: Virchows Archiv: An International Journal of Pathology
#3
REVIEW
Dina Ioffe, Michelle McSweeny, Michael J Hall
The recognized importance of microsatellite instability (MSI) in cancer has evolved considerably in the past 30 years. From its beginnings as a molecular predictor for Lynch syndrome, MSI first transitioned to a universal screening test in all colorectal and endometrial cancers, substantially increasing the identification of patients with Lynch syndrome among cancer patients. More recently, MSI has been shown to be a powerful biomarker of response to immune checkpoint blockade therapy across a diversity of tumor types, and in 2017 was granted Food and Drug Administration approval as the first tumor histology-agnostic biomarker for a cancer therapy...
May 2024: Clinics in Colon and Rectal Surgery
#4
JOURNAL ARTICLE
Tetsuya Ito, Tatsuro Yamaguchi, Kensuke Kumamoto, Okihide Suzuki, Noriyasu Chika, Satoru Kawakami, Tomonori Nagai, Tsukasa Igawa, Kenji Fujiyoshi, Yoshito Akagi, Tomio Arai, Kiwamu Akagi, Hidetaka Eguchi, Yasushi Okazaki, Hideyuki Ishida
BACKGROUND: Based on molecular characteristics, deficient DNA mismatch repair (dMMR) solid tumors are largely divided into three categories: somatically MLH1-hypermethylated tumors, Lynch syndrome (LS)-associated tumors, and Lynch-like syndrome (LLS)-associated tumors. The incidence of each of these conditions and the corresponding pathogenic genes related to LLS remain elusive. METHODS: We identified dMMR tumors in 3609 tumors from 9 different solid organs, including colorectal cancer, gastric cancer, small-bowel cancer, endometrial cancer, ovarian cancer, upper urinary tract cancer, urinary bladder cancer, prostate cancer, and sebaceous tumor, and comprehensively summarized the characterization of dMMR tumors...
April 14, 2024: International Journal of Clinical Oncology
#5
JOURNAL ARTICLE
M Á Corral de la Calle, J Encinas de la Iglesia, G C Fernández Pérez, A Fraino, M Repollés Cobaleda
80% of renal carcinomas (RC) are diagnosed incidentally by imaging. 2-4% of "sporadic" multifocality and 5-8% of hereditary syndromes are accepted, probably with underestimation. Multifocality, young age, familiar history, syndromic data, and certain histologies lead to suspicion of hereditary syndrome. Each tumor must be studied individually, with a multidisciplinary evaluation of the patient. Nephron-sparing therapeutic strategies and a radioprotective diagnostic approach are recommended. Relevant data for the radiologist in major RC hereditary syndromes are presented: von-Hippel-Lindau, Chromosome-3 translocation, BRCA-associated protein-1 mutation, RC associated with succinate dehydrogenase deficiency, PTEN, hereditary papillary RC, Papillary thyroid cancer- Papillary RC, Hereditary leiomyomatosis and RC, Birt-Hogg-Dubé, Tuberous sclerosis complex, Lynch, Xp11...
2024: Radiología
#6
JOURNAL ARTICLE
Priyanka Kanth, Mark W Hazel, John C Schell, Jared Rutter, Ruoxin Yao, Alyssa P Mills, Don A Delker
Serrated polyposis syndrome (SPS) presents with multiple sessile serrated lesions (SSL) in the large intestine and confers increased colorectal cancer (CRC) risk. However, the etiology of SPS is not known. SSL-derived organoids have not been previously studied but may help provide insights into SPS pathogenesis and identify novel biomarkers and chemopreventive strategies. This study examined effects of EGFR and COX pathway inhibition in organoid cultures derived from uninvolved colon and polyps of SPS patients...
April 12, 2024: Familial Cancer
#7
JOURNAL ARTICLE
Sarkhell Radha, Jonathan Hutt, Ajay Lall, Benjamin Domb, T Sean Lynch, Damian Griffin, Richard E Field, Josip Chuck-Cakic
In 2018, the International Society for Hip Preservation Surgery (ISHA) initiated a series of Delphi consensus studies to identify the global hip preservation community's current opinion on best practices for different facets of hip preservation surgery. Arthroscopic procedures to treat hip pathologies, such as femoroacetabular impingement syndrome (FAIS) are now established in mainstream orthopaedic practice. This study establishes recommendations for the investigation of patients with suspected FAIS. The investigation has focused on the three phases of the diagnostic process-patient history, physical examination and special investigations...
January 2024: Journal of Hip Preservation Surgery
#8
REVIEW
Bradley A Krasnick, Matthew F Kalady
Patients with Lynch syndrome are predisposed to developing colorectal cancer and a variety of extracolonic malignancies, at a young age. The management of rectal cancer in the setting of Lynch syndrome is a complex clinical scenario that requires the expertise of a multidisciplinary management team. In this review, we delve into the approach for rectal cancer in these patients, and specifically focus on several key aspects of treatment. Some unique aspects of rectal cancer in Lynch syndrome include the decision between proctectomy alone versus total proctocolectomy with or without an ileal pouch, the utility of chemotherapy and immunotherapy, nonoperative rectal cancer management, and the management of rectal polyps...
May 2024: Clinics in Colon and Rectal Surgery
#9
REVIEW
Lauren Gima, Ilana Solomon, Heather Hampel
The field of cancer genetics has evolved significantly over the past 30 years. Genetic testing has become less expensive and more comprehensive which has changed practice patterns. It is no longer necessary to restrict testing to those with the highest likelihood of testing positive. In addition, we have learned that the criteria developed to determine who has the highest likelihood of testing positive are neither sensitive nor specific. As a result, the field is moving from testing only the highest risk patients identified based on testing criteria to testing all cancer patients...
May 2024: Clinics in Colon and Rectal Surgery
#10
REVIEW
Charles M Bowen, Krishna M Sinha, Eduardo Vilar
The coming of age for cancer treatment has experienced exponential growth in the last decade with the addition of immunotherapy as the fourth pillar to the fundamentals of cancer treatment-chemotherapy, surgery, and radiation-taking oncology to an astounding new frontier. In this time, rapid developments in computational biology coupled with immunology have led to the exploration of priming the host immune system through vaccination to prevent and treat certain subsets of cancer such as melanoma and hereditary colorectal cancer...
May 2024: Clinics in Colon and Rectal Surgery
#11
REVIEW
Ophir Gilad, Charles Muller, Sonia S Kupfer
Cancer prevention in hereditary gastrointestinal predisposition syndromes relies primarily on intensive screening (e.g., colonoscopy) or prophylactic surgery (e.g., colectomy). The use of chemopreventive agents as an adjunct to these measures has long been studied both in the general population and in hereditary cancer patients, in whom the risk of malignancy, and therefore the potential risk reduction, is considerably greater. However, to date only few compounds have been found to be effective, safe, and tolerable for widespread use...
May 2024: Clinics in Colon and Rectal Surgery
#12
JOURNAL ARTICLE
Xiaoyun Li, Yining Xiang, Yunhuan Zhen, Yong Yu
Carrilizumab, a PD-1 inhibitor, has shown therapeutic effectiveness in patients with late-stage or metastatic solid tumors exhibiting DNA mismatch repair deficiency (dMMR) or microsatellite instability-high (MSI-H). dMMR/MSI-H cancer patients are known to be responsive to PD-1 inhibitors. However, the use of carrilizumab for preoperative immunotherapy in early, unresectable MSI-H/dMMR primary colon cancer lesions is relatively underexplored. We present the case of a 46-year-old male who sought medical attention at our institution due to a history of hematochezia for two weeks, right-sided abdominal pain for one week, and loose stools...
April 11, 2024: Zeitschrift Für Gastroenterologie
#13
JOURNAL ARTICLE
Stéphanie Pascual, Brooklyn Noble, Nusreen Ahmad-Saeed, Catherine Aldridge, Simone Ambretti, Sharon Amit, Rachel Annett, Shaan Ashk O'Shea, Anna Maria Barbui, Gavin Barlow, Lucinda Barrett, Mario Berth, Alessandro Bondi, Nicola Boran, Sara E Boyd, Catarina Chaves, Martin Clauss, Peter Davies, Ileana T Dianzo-Delgado, Jaime Esteban, Stefan Fuchs, Lennart Friis-Hansen, Daniel Goldenberger, Andrej Golle, Juha O Groonroos, Ines Hoffmann, Tomer Hoffmann, Harriet Hughes, Marina Ivanova, Peter Jezek, Gwennan Jones, Zeynep Ceren Karahan, Cornelia Lass-Flörl, Frédéric Laurent, Laura Leach, Matilde Lee Horsbøll Pedersen, Caroline Loiez, Maureen Lynch, Robert J Maloney, Martin Marsh, Olivia Milburn, Shanine Mitchell, Luke S P Moore, Lynn Moffat, Marianna Murdjeva, Michael E Murphy, Deepa Nayar, Giacomo Nigrisoli, Fionnuala O'Sullivan, Büşra Öz, Teresa Peach, Christina Petridou, Mojgan Prinz, Mitja Rak, Niamh Reidy, Gian Maria Rossolini, Anne-Laure Roux, Patricia Ruiz-Garbajosa, Kordo Saeed, Llanos Salar-Vidal, Carlos Salas Venero, Mathyruban Selvaratnam, Eric Senneville, Peter Starzengruber, Ben Talbot, Vanessa Taylor, Rihard Trebše, Deborah Wearmouth, Birgit Willinger, Marjan Wouthuyzen-Bakker, Brianne Couturier, Florence Allantaz
Introduction : The BIOFIRE Joint Infection (JI) Panel is a diagnostic tool that uses multiplex-PCR testing to detect microorganisms in synovial fluid specimens from patients suspected of having septic arthritis (SA) on native joints or prosthetic joint infections (PJIs). Methods : A study was conducted across 34 clinical sites in 19 European and Middle Eastern countries from March 2021 to June 2022 to assess the effectiveness of the BIOFIRE JI Panel. Results : A total of 1527 samples were collected from patients suspected of SA or PJI, with an overall agreement of 88...
2024: Journal of Bone and Joint Infection
#14
JOURNAL ARTICLE
Qiyuan Hu, Abbas A Rizvi, Geoffery Schau, Kshitij Ingale, Yoni Muller, Rachel Baits, Sebastian Pretzer, Aïcha BenTaieb, Abigail Gordhamer, Roberto Nussenzveig, Adam Cole, Matthew O Leavitt, Ryan D Jones, Rohan P Joshi, Nike Beaubier, Martin C Stumpe, Kunal Nagpal
Microsatellite instability-high (MSI-H) is a tumor-agnostic biomarker for immune checkpoint inhibitor therapy. However, MSI status is not routinely tested in prostate cancer, in part due to low prevalence and assay cost. As such, prediction of MSI status from hematoxylin and eosin (H&E) stained whole-slide images (WSIs) could identify prostate cancer patients most likely to benefit from confirmatory testing to evaluate their eligibility for immunotherapy and need for Lynch syndrome testing. Prostate biopsies and surgical resections from prostate cancer patients referred to our institution were analyzed...
April 9, 2024: NPJ Precision Oncology
#15
Adam Qazi, Karan Mathur, Ryan D Rosen, Alyssa Stroud, John Webber, Milton Mutchnick
There is sparse literature on the development of malignancy in remnant gastric stomach after bariatric Roux-en-Y gastric bypass surgery. We report a case of overt upper gastrointestinal bleeding from malignant adenocarcinoma in the remnant stomach presenting several years after bariatric Roux-En-Y gastric bypass surgery. The mass in the remnant stomach was surgically resected, and the patient was subsequently diagnosed with Lynch syndrome on genetic analysis.
April 2024: ACG Case Reports Journal
#16
Yi-Ching Huang, Peng-Chan Lin, Pei-Ying Wu, Nai-Syuan Chen, Meng-Ru Shen, Yu-Min Yeh, Ya-Min Cheng
INTRODUCTION: Lynch syndrome is caused by a germline mutation in mismatch repair (MMR) genes, leading to the loss of expression of MMR heterodimers, either MLH1/PMS2 or MSH2/MSH6, or isolated loss of PMS2 or MSH6. Concurrent loss of both heterodimers is uncommon, and patients carrying pathogenic variants affecting different MMR genes are rare, leading to the lack of cancer screening recommendation for these patients.Case presentation:Here, we reported a female with a family history of Lynch syndrome with MLH1 c...
June 2024: Gynecologic Oncology Reports
#17
JOURNAL ARTICLE
Marjaana Pussila, Aleksi Laiho, Petri Törönen, Pauliina Björkbacka, Sonja Nykänen, Kirsi Pylvänäinen, Liisa Holm, Jukka-Pekka Mecklin, Laura Renkonen-Sinisalo, Taru Lehtonen, Anna Lepistö, Jere Linden, Satu Mäki-Nevala, Päivi Peltomäki, Minna Nyström
BACKGROUND: Lynch syndrome (LS) is one of the most common hereditary cancer syndromes worldwide. Dominantly inherited mutation in one of four DNA mismatch repair genes combined with somatic events leads to mismatch repair deficiency and microsatellite instability (MSI) in tumours. Due to a high lifetime risk of cancer, regular surveillance plays a key role in cancer prevention; yet the observation of frequent interval cancers points to insufficient cancer prevention by colonoscopy-based methods alone...
April 6, 2024: EBioMedicine
#18
JOURNAL ARTICLE
Celia Diez de Los Rios de la Serna, Maria Teresa Lluch-Canut, Maria Paz Fernández-Ortega
OBJECTIVES: There is limited evidence on health promotion interventions in people with hereditary cancer syndromes or on their main sources of support and information. This study aimed to understand these patients' experiences and needs, including their information needs, their views on prevention and mental health, and the support they want from nurses. METHODS: This qualitative study included 22 people (8 previvors and 14 survivors) with hereditary breast and ovarian syndrome or Lynch syndrome from 10 European countries...
April 3, 2024: Seminars in Oncology Nursing
#19
JOURNAL ARTICLE
Xiaoli Tan, Yongzhen Fang, Xinjuan Fan, Weihao Deng, Jinglin Huang, Yacheng Cai, Jiaxin Zou, Zhiting Chen, Hanjie Lin, Liang Xu, Guannan Wang, Huanmiao Zhan, Shuhui Huang, Xinhui Fu
BACKGROUND: MLH1 promoter methylation analysis is recommended in screening for Lynch syndrome (LS) in patients with MLH1-deficient colorectal cancer (CRC). The study aims to identify specific methylation regions in the MLH1 promoter and to evaluate the clinicopathologic characteristics of and prognosis for patients with MLH1 methylation. METHODS: A total of 580 CRC cases were included. The DNA mismatch repair (MMR) protein expression was assessed by using immunohistochemistry (IHC)...
2024: Gastroenterology Report
#20
JOURNAL ARTICLE
Piers Blombery, Lucy Fox, Georgina L Ryland, Ella R Thompson, Jennifer Lickiss, Michelle McBean, Satwica Yerneni, Alison Trainer, David Hughes, Anthea Greenway, Francoise Mechinaud, Erica M Wood, Graham J Lieschke, Jeff Szer, Pasquale Barbaro, John Roy, Joel Wight, Elly Lynch, Melissa Martyn, Clara Gaff, David Ritchie
No abstract text is available yet for this article.
April 1, 2024: Haematologica
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