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)
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
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
Antonino Pantaleo, Giovanna Forte, Filomena Cariola, Anna Maria Valentini, Candida Fasano, Paola Sanese, Valentina Grossi, Antonia Lucia Buonadonna, Katia De Marco, Martina Lepore Signorile, Anna Filomena Guglielmi, Andrea Manghisi, Gianluigi Gigante, Raffaele Armentano, Vittoria Disciglio, Cristiano Simone
Summary: This study clinically and molecularly characterized CRC patients with LS features. The majority of patients had pathogenic or likely pathogenic variants in MMR genes, highlighting the importance of personalized medicine in LS and hereditary cancer syndromes.
Article
Biochemistry & Molecular Biology
Mar Infante, Monica Arranz-Ledo, Enrique Lastra, Luis Enrique Abella, Raquel Ferreira, Marta Orozco, Lara Hernandez, Noemi Martinez, Mercedes Duran
Summary: The probability of carrying two pathogenic variants in dominant cancer-predisposing genes for hereditary breast and ovarian cancer and lynch syndromes in the same patient is uncommon. However, four cases of patients carrying different pathogenic variants in breast, ovarian, or colorectal cancer have been identified. The ages at diagnosis and severity of disease were similar to those in single gene carriers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Oncology
Monica D. Levine, David A. Barrington, Heather Hampel, Paul J. Goodfellow, David E. Cohn
Summary: This study proposes an optimized diagnostic algorithm for newly diagnosed endometrial cancer patients, aiming to improve diagnosis and save costs through upfront multi-gene panel testing. The results show that adopting this algorithm could lead to cost savings of $259 per patient and potentially identify more patients with Lynch syndrome and BRCA1/BRCA2 genetic variants.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Oncology
Kathleen Barrus, Natasha Purington, Nicolette Chun, Uri Ladabaum, James M. Ford
Summary: In cancer treatment, somatic tumor sequencing is commonly used to tailor therapy, but it can also identify patients with germline pathogenic variants causing cancer predisposition syndromes like Lynch syndrome. However, clinicians seem to be unaware of this implication and fail to refer a significant proportion of these patients for genetic testing.
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.
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
Oncology
Brandie Heald, Sara Mokhtary, Sarah M. Nielsen, Susan Rojahn, Shan Yang, Scott T. Michalski, Edward D. Esplin
Summary: This study assessed the prevalence and clinical impact of pathogenic germline variants (PGVs) in hereditary uterine cancer patients. The results indicate that focusing on Lynch syndrome genes and PTEN and limiting testing to patients under 50 years old may overlook a significant proportion of patients with actionable PGVs.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Pathology
Miralem Mrkonjic, Gulisa Turashvili
Summary: This study assessed the use of EPM2AIP1 immunohistochemical (IHC) testing in combination with MMR proteins as a surrogate marker for MLH1 promoter methylation status. The results showed that EMP2AIP1 IHC correlated well with MLH1 promoter methylation results, suggesting its potential as an alternative method for methylation testing.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2022)
Article
Surgery
Kelsey E. Koch, Paolo Goffredo, Jennifer E. Hrabe, Irena Gribovskaja-Rupp, Anthony N. Snow, Andrew M. Bellizzi, Muneera R. Kapadia
Summary: The study found that most MMR-deficient patients were identified and referred to genetic counseling preoperatively, though not all patients received counseling. Among LS patients diagnosed preoperatively, half underwent extended resection, suggesting the need for further research on barriers to counseling and decision-making around resection extent.
AMERICAN JOURNAL OF SURGERY
(2021)
Article
Oncology
N. Jewel Samadder, Douglas Riegert-Johnson, Lisa Boardman, Deborah Rhodes, Myra Wick, Scott Okuno, Katie L. Kunze, Michael Golafshar, Pedro L. S. Uson, Luke Mountjoy, Natalie Ertz-Archambault, Neej Patel, Eduardo A. Rodriguez, Blanca Lizaola-Mayo, Michael Lehrer, Cameron S. Thorpe, Nathan Y. Yu, Edward D. Esplin, Robert L. Nussbaum, Richard R. Sharp, Cindy Azevedo, Margaret Klint, Megan Hager, Sarah Macklin-Mantia, Alan H. Bryce, Tanios S. Bekaii-Saab, Aleksandar Sekulic, Keith A. Stewart
Summary: This cohort study found that universal multigene panel testing among patients with solid tumor cancer was associated with an increased detection of heritable variants over the predicted yield of targeted testing based on guidelines. Nearly 30% of patients with high-penetrance variants had modifications in their treatment based on the finding. The uptake of cascade FVT was low despite being offered at no cost.
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.
Review
Obstetrics & Gynecology
Antonina I. Frolova, Matthew A. Shanahan, Methodius G. Tuuli, Laura Simon, Omar M. Young
Summary: There is limited data on the complication rates of PICC use in pregnancy, with significant heterogeneity among existing studies. The risk of VTE in pregnant women appears comparable to non-pregnant hospitalized patients. The risk of infection associated with PICC use is highly variable.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Jingxia Liu, Chengjie Xiong, Lei Liu, Guoqiao Wang, Luo Jingqin, Feng Gao, Ling Chen, Yan Li
Summary: This study investigates the impact of equal versus unequal cluster sizes on treatment effects in cluster randomized trials, suggesting that increasing the number of clusters can compensate for efficiency loss due to different cluster sizes.
JOURNAL OF BIOPHARMACEUTICAL STATISTICS
(2021)
Article
Statistics & Probability
Jingqin Luo, Feng Gao, Jingxia Liu, Guoqiao Wang, Ling Chen, Anne M. Fagan, Gregory S. Day, Jonathan Voeglein, Jasmeer P. Chhatwal, Chengjie Xiong
Summary: Bivariate correlation coefficients are commonly used in medical research to assess the relationship between two variables. In a family-type clustered design, BCCs can be defined and estimated at various hierarchical levels. Simulation studies were conducted to evaluate the performance of proposed estimators.
JOURNAL OF APPLIED STATISTICS
(2022)
Letter
Oncology
Sena Kim, Kidist Ashami, Sora Lim, Karl Staser, Kiran Vij, Srikanth Santhanam, Julie Ritchey, Sarah Peterson, Feng Gao, Matthew A. Ciorba, Matthew L. Cooper, John F. DiPersio, Jaebok Choi
Article
Hematology
Jingyu Xiang, Min Shi, Mark A. Fiala, Feng Gao, Michael P. Rettig, Geoffrey L. Uy, Mark A. Schroeder, Katherine N. Weilbaecher, Keith E. Stockerl-Goldstein, Shamim Mollah, John F. DiPersio
Summary: Mobilized peripheral blood has become the primary source of hematopoietic stem cells. This study compared different mobilization regimens and developed a machine learning model to predict inadequate stem cell yields in allogeneic donors.
Article
Biology
Horng-Shiuann Wu, F. Gao, L. Yan, C. Given
Summary: The study found that light therapy can significantly improve post-treatment fatigue and subjective sleep quality in female survivors of breast cancer who still experience fatigue and sleep disruption 1-3 years after completing chemotherapy and/or radiation. Additionally, unexpected benefits of dim light on sleep were observed, improving some sleep parameters.
CHRONOBIOLOGY INTERNATIONAL
(2022)
Article
Obstetrics & Gynecology
Drew Hensel, Fan Zhang, Ebony B. Carter, Antonina Frolova, Anthony O. Odibo, Jeannie C. Kelly, Alison G. Cahill, Nandini Raghuraman
Summary: This study analyzed the relationship between severity of intrapartum fever and duration from reaching maximum temperature to delivery with neonatal and maternal morbidity. It found that the severity of intrapartum fever was associated with an increased risk of neonatal morbidity, in a potentially dose-dependent manner. However, this association was independent of the duration between reaching maximum intrapartum temperature and delivery.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Article
Obstetrics & Gynecology
Katherine H. Bligard, Xinyuan Xu, Nandini Raghuraman, Jeffrey M. Dicke, Anthony O. Odibo, Antonina Frolova
Summary: Compared with persistent absent end-diastolic velocity, intermittent absent end-diastolic velocity in pregnancies with fetal growth restriction is associated with lower rates of progression to reversed end-diastolic velocity, higher likelihood of umbilical artery Doppler improvement, longer latency to delivery, higher gestational age at delivery, and lower rates of neonatal morbidity and death. Using an absent end-diastolic velocity percentage cut-point in 50% of cardiac cycles can help differentiate between intermittent and persistent absent end-diastolic velocity, allowing for further risk stratification in growth-restricted fetuses.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
(2022)
Article
Obstetrics & Gynecology
Katherine H. Bligard, Jeffrey M. Dicke, Molly J. Stout, D. Michael Nelson, Antonina Frolova, Alison G. Cahill, Nandini Raghuraman
Summary: The etiology of stillbirth does not differ significantly between gravidas with and without obesity after controlling for maternal confounders. Compliance with recommended stillbirth evaluation is low in both groups.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Obstetrics & Gynecology
Rebecca R. Rimsza, Nandini Raghuraman, Ebony B. Carter, Jeannie C. Kelly, Alison G. Cahill, Antonina I. Frolova
Summary: Objective internal contraction monitoring allows for quantitative assessment of intrauterine resting tone. Elevated intrauterine resting tone during labor may result in compromised uterine blood flow and neonatal morbidity. This study aimed to evaluate the association between elevated resting tone during labor and neonatal morbidity.
AMERICAN JOURNAL OF PERINATOLOGY
(2023)
Article
Obstetrics & Gynecology
Antonina I. Frolova, Kevin K. Prifti, Nandini Raghuraman, Ebony B. Carter, Sarah K. England, Molly J. Stout
Summary: This study investigated the relationship between maternal serum lipid parameters and oxytocin requirements during vaginal deliveries. The results showed that low levels of HDL-C in maternal serum were associated with increased infusion doses of oxytocin. This suggests that HDL-C may serve as a new indicator for predicting and improving labor outcomes.
AMERICAN JOURNAL OF PERINATOLOGY
(2022)
Article
Obstetrics & Gynecology
Rebecca R. Rimsza, Jeannie C. Kelly, Antonina I. Frolova, Anthony A. Odibo, Ebony B. Carter, Alison G. Cahill, Nandini Raghuraman
Summary: This study investigated the impact of cervical effacement at the time of amniotomy on the outcomes of labor induction in nulliparous women. The results showed that amniotomy at low effacement, particularly following cervical ripening balloon expulsion, was associated with a lower likelihood of completing the first stage of labor and achieving vaginal delivery.
AMERICAN JOURNAL OF PERINATOLOGY
(2023)
Article
Endocrinology & Metabolism
Kumar Saurabh, Magdaleena Naemi Mbadhi, Kevin K. Prifti, Kaci T. Martin, Antonina Frolova
Summary: Abnormal uterine contractility is a common mechanism for obstetric complications, affecting millions of women annually. The activation of sphingolipid metabolism, specifically sphingosine 1-phosphate (S1P), during human labor may modify the myometrial proinflammatory phenotype. By activating S1P receptor 3 (S1PR3) and downstream ERK1/2 pathways, S1P induces a proinflammatory gene signature and upregulates expression of known inflammatory markers of labor.
Article
Hematology
Michael Slade, Mark A. Fiala, Marie Kirchmeyer, Jeff King, Feng Gao, Mark A. Schroeder, A. Keith Stewart, Keith Stockerl-Goldstein, Christine Chen, Ravi Vij
Summary: This study investigates the use of elotuzumab, pomalidomide, and dexamethasone (EPd) as salvage therapy prior to and maintenance after second autologous hematopoietic cell transplantation (AHCT2) for relapsed multiple myeloma. The results show that EPd maintenance after AHCT2 is safe and tolerable, with similar 1-year progression-free survival (PFS) and median PFS compared to previous studies.
TRANSPLANTATION AND CELLULAR THERAPY
(2023)
Article
Hematology
Lawrence Wayne Liu, Alicia Yn, Feng Gao, Marissa Olson, Mallory Crain, Ramzi Abboud, Peter Westervelt, Camille Abboud, Ravi Vij, Keith Stockerl-Goldstein, Iskra Pusic, Amanda F. Cashen, Mark A. Schroeder
Summary: Letermovir is effective in preventing CMV infection in CMV seropositive recipients. This study provides data on the incidence of csCMVi and overall survival beyond the initial 24 weeks after alloSCT. It also identifies risk factors for CMV-related mortality and suggests the possible need for extended use of letermovir.
TRANSPLANTATION AND CELLULAR THERAPY
(2022)
Article
Oncology
Dimitrios Nasioudis, Stefan Gysler, Nawar Latif, Lory Cory, Robert L. Giuntoli II, Sarah H. Kim, Fiona Simpkins, Lainie Martin, Emily M. Ko
Summary: The prevalence of ERBB2 gene amplification was investigated among patients with gynecologic malignancies. The study found that ERBB2 amplification is frequently encountered in uterine serous carcinoma and mucinous ovarian carcinoma, but less common in endometrioid endometrial carcinoma.
GYNECOLOGIC ONCOLOGY
(2024)