Review
Oncology
Natalie Lim, Martha Hickey, Graeme P. Young, Finlay A. Macrae, Christabel Kelly
Summary: There is limited evidence to support screening for endometrial and ovarian cancer in Lynch syndrome. Data on mortality reduction are not available. Further randomized trials comparing targeted screening methods are needed. Risk reducing surgery remains the most reliable way to reduce endometrial and ovarian cancer risk in Lynch syndrome.
INTERNATIONAL JOURNAL OF GYNECOLOGICAL CANCER
(2022)
Article
Oncology
Swetlana Ladigan-Badura, Deepak B. Vangala, Christoph Engel, Karolin Bucksch, Robert Hueneburg, Claudia Perne, Jacob Nattermann, Verena Steinke-Lange, Nils Rahner, Hans K. Schackert, Juergen Weitz, Matthias Kloor, Judith Kuhlkamp, Huu Phuc Nguyen, Gabriela Moeslein, Christian Strassburg, Monika Morak, Elke Holinski-Feder, Reinhard Buettner, Stefan Aretz, Markus Loeffler, Wolff Schmiegel, Christian Pox, Karsten Schulmann
Summary: Regular upper GI endoscopy surveillance for LS patients starting from the age of 30 can successfully detect gastric cancer in early stages, leading to more frequent diagnoses in early-stage disease compared to symptomatic diagnoses. The study emphasizes the importance of early detection through regular screenings.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Article
Oncology
Soyoun Rachel Kim, Alicia Tone, Raymond H. Kim, Matthew Cesari, Blaise A. Clarke, Lua Eiriksson, Tae L. Hart, Melyssa Aronson, Spring Holter, Alice Lytwyn, Manjula Maganti, Leslie Oldfield, Steven Gallinger, Marcus Q. Bernardini, Amit M. Oza, Bojana Djordjevic, Jordan Lerner-Ellis, Emily van de Laar, Danielle Vicus, Trevor J. Pugh, Aaron Pollett, Sarah E. Ferguson
Summary: The implementation of a navigated genetic program resulted in a high rate of genetic assessment in patients with endometrial or nonserous/nonmucinous ovarian cancer at risk for Lynch syndrome.
Review
Oncology
Samuel Oxley, Ran Xiong, Xia Wei, Ashwin Kalra, Michail Sideris, Rosa Legood, Ranjit Manchanda
Summary: This study reviewed the research on the quality of life after hysterectomy for the prevention of endometrial cancer. The evidence on quality of life after this surgery is very limited, but generally shows reduced worry about cancer and overall satisfaction among women. However, the removal of both ovaries severely impacts menopause-specific quality of life and sexual function, particularly without hormone-replacement therapy.
Review
Medicine, General & Internal
Emma J. Crosbie, Sarah J. Kitson, Jessica N. McAlpine, Asima Mukhopadhyay, Melanie E. Powell, Naveena Singh
Summary: Endometrial cancer is the most common gynaecological cancer in high income countries, with a global rise in incidence. Obesity is the major underlying cause, posing challenges for diagnosis and treatment. Early presentation with postmenopausal bleeding ensures cure, but advanced cases have poor prognosis. Minimally invasive surgical staging and targeted chemotherapeutic strategies are important advances.
Review
Oncology
Shuangshuang Zhao, Lingli Chen, Yuqin Zang, Wenlu Liu, Shiqi Liu, Fei Teng, Fengxia Xue, Yingmei Wang
Summary: Lynch syndrome (LS) is caused by germline pathogenic variants in mismatch repair (MMR) genes, leading to LS-associated endometrial cancer (LS-EC) which has specific clinicopathologic features. Screening, diagnosis, surveillance, prevention and treatment for LS-EC have significantly advanced, with recommendations for universal LS screening among EC patients.
INTERNATIONAL JOURNAL OF CANCER
(2022)
Article
Oncology
Deepak B. Vangala, Swetlana Ladigan-Badura, Christoph Engel, Robert Hueneburg, Claudia Perne, Karolin Bucksch, Jacob Nattermann, Verena Steinke-Lange, Nils Rahner, Juergen Weitz, Matthias Kloor, Judith Tomann, Ali Canbay, Huu-Phuc Nguyen, Christian Strassburg, Gabriele Moeslein, Monika Morak, Elke Holinski-Feder, Reinhard Buettner, Stefan Aretz, Markus Loeffler, Wolff Schmiegel, Christian Pox, Karsten Schulmann
Summary: Early detection of duodenal cancer (DC) through esophago-gastro-duodenoscopy (EGD) in Lynch syndrome (LS) patients is feasible, with a higher rate in the surveillance group. Despite factors like family history and genetic mutations, a significant proportion of patients can benefit from early detection through surveillance.
INTERNATIONAL JOURNAL OF CANCER
(2021)
Review
Gastroenterology & Hepatology
Guillaume Perrod, Gabriel Rahmi, Christophe Cellier
Summary: Lynch syndrome is a hereditary predisposition to colorectal cancer, and regular colonoscopies with high definition screening can reduce the incidence and mortality of colorectal cancer, recommended to start at the age of 20-25.
DIGESTIVE ENDOSCOPY
(2021)
Article
Biochemistry & Molecular Biology
Rong Bu, Abdul K. Siraj, Sandeep Kumar Parvathareddy, Kaleem Iqbal, Saud Azam, Zeeshan Qadri, Maha Al-Rasheed, Wael Haqawi, Mark Diaz, Khadija Alobaisi, Padmanaban Annaiyappanaidu, Nabil Siraj, Hamed AlHusaini, Osama Alomar, Ismail A. Al-Badawi, Fouad Al-Dayel, Khawla S. Al-Kuraya
Summary: This study investigated the frequency of LS in EC patients from Saudi Arabia and found that the prevalence of LS was low, with LLS being as common as LS in this population.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Obstetrics & Gynecology
Joseph A. Dottino, Qian Zhang, David S. Loose, Bryan Fellman, Brenda D. Melendez, Mikayla S. Borthwick, Laurie J. McKenzie, Ying Yuan, Richard K. Yang, Russell R. Broaddus, Karen H. Lu, Pamela T. Soliman, Melinda S. Yates
Summary: Obesity in premenopausal women may not create a local hyperestrogenic environment, but instead reflect a decreased cancer risk profile. Further studies are warranted to evaluate individualized biomarker profiles for differences in hormone-responsive signals or immune response. Women with Lynch syndrome and obesity may have an increased risk of developing cancer based on endometrial biomarker profiles.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2021)
Article
Multidisciplinary Sciences
James London, Juana Martin-Lopez, Inho Yang, Jiaquan Liu, Jong-Bong Lee, Richard Fishel
Summary: The study reveals that HsMSH2-HsMSH6 serves as a platform for the formation of a stable sliding clamp by HsMLH1-HsPMS2 on mismatched DNA. This mechanism solves an operational puzzle in MMR and can predict the distribution of clinically relevant HsMLH1 missense mutations.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Oncology
Courtney J. Riedinger, Morgan Brown, Paulina J. Haight, Floor J. Backes, David E. Cohn, Paul J. Goodfellow, Casey M. Cosgrove
Summary: This study evaluated the contribution of mismatch repair (MMR) status to traditional risk stratification algorithms in predicting nodal involvement and recurrence. The results showed that epigenetic MMR deficiency was associated with increased risks of lymph node metastasis and recurrence. Traditional uterine-based risk stratification algorithms may not fully reflect the risk for recurrence in MMR deficient tumors. Therefore, considering MMR status and MLH1 hypermethylation alongside traditional risk stratification algorithms is recommended.
FRONTIERS IN ONCOLOGY
(2023)
Review
Oncology
Rong Huang, Xiangyu Deng, Zhenhua Zhang, Qinglian Wen, Dan Li
Summary: This case report presents a 45-year-old woman with LS-associated endometrial cancer (LS-EC) who had EPCAM and MSH2 gene deletions, confirming the presence of LS. Despite early recurrence, the patient experienced favorable oncologic outcomes.
FRONTIERS IN ONCOLOGY
(2022)
Article
Oncology
Yoland Antill, Daniel D. Buchanan, Clare L. Scott
Summary: Endometrial cancer patients with Lynch gene or POLE/POLD1 gene mutations are more likely to respond well to immune therapy, while those with silencing of the MLH1 gene may not be as responsive. Combination therapies may be important to consider for these patients.
Article
Oncology
Hannah C. Karpel, Maria Smith, Allison Brodsky, Bhavana Pothuri
Summary: This study aimed to increase the rate of genetic counseling referrals and testing for Lynch Syndrome in endometrial cancer patients through the implementation of a specific protocol. The results showed a significant increase in the frequency of genetic counseling referrals after the protocol initiation. However, there was no statistically significant difference in the rate of genetic testing. This study highlights the importance of Lynch Syndrome screening in clinical practice.
GYNECOLOGIC ONCOLOGY
(2023)