Article
Oncology
Christopher I. Li, Yuping Zhang, Marcin Cieslik, Yi-Mi Wu, Lanbo Xiao, Erin Cobain, Mei-Tzu C. Tang, Xuhong Cao, Peggy Porter, Jamie Guenthoer, Dan R. Robinson, Arul M. Chinnaiyan
Summary: The study found that cancer cell intrinsic and immunologic phenotypes are independent predictors of recurrence. By simultaneously analyzing the tumor and its microenvironment, a compound risk model was developed to stratify patients into low-, medium-, and high-risk groups with different chances of recurrence. The results also demonstrated the utility of intrinsic and extrinsic phenotypes as independent prognostic biomarkers in Basal-like breast cancer (BLBC), and the prognostic model developed has the potential to inform clinical decision-making for BLBC patients.
CLINICAL CANCER RESEARCH
(2021)
Article
Multidisciplinary Sciences
Mark Bustoros, Shankara Anand, Romanos Sklavenitis-Pistofidis, Robert Redd, Eileen M. Boyle, Benny Zhitomirsky, Andrew J. Dunford, Yu-Tzu Tai, Selina J. Chavda, Cody Boehner, Carl Jannes Neuse, Mahshid Rahmat, Ankit Dutta, Tineke Casneuf, Raluca Verona, Efstathis Kastritis, Lorenzo Trippa, Chip Stewart, Brian A. Walker, Faith E. Davies, Meletios-Athanasios Dimopoulos, P. Leif Bergsagel, Kwee Yong, Gareth J. Morgan, Francois Aguet, Gad Getz, Irene M. Ghobrial
Summary: This study identifies six distinct molecular and clinical subtypes of smoldering multiple myeloma (SMM) using genetic alterations analysis. Three of these subtypes are associated with an increased risk of progression to active multiple myeloma.
NATURE COMMUNICATIONS
(2022)
Review
Geriatrics & Gerontology
Lise Barbe, Steve Finkbeiner
Summary: Repeat diseases are caused by expanded repetitive DNA sequences and the epigenetic state of the repeat also plays a role in disease onset and progression. Many repeat diseases share a common epigenetic pattern of increased methylation at CpG islands near the repeat region.
FRONTIERS IN AGING NEUROSCIENCE
(2022)
Article
Biophysics
Md Sajedul Islam, Vinod Gopalan, Alfred K. Lam, Muhammad J. A. Shiddiky
Summary: Colorectal carcinoma (CRC) is a common cancer with high mortality rates, and various biomarkers and detection methods have been developed for its diagnosis and prognosis assessment. However, a gold standard method that is inexpensive, simple, and time-efficient and a critical review of the advantages and limitations of existing techniques are still lacking. This article provides an overview of the commonly used genetic and epigenetic biomarkers for CRC, discusses their detection methods, and presents the major challenges and advantages/limitations of current techniques.
BIOSENSORS & BIOELECTRONICS
(2023)
Article
Gastroenterology & Hepatology
Kristiina Rajamaki, Aurora Taira, Riku Katainen, Niko Valimaki, Anna Kuosmanen, Roosa-Maria Plaketti, Toni T. Seppala, Maarit Ahtiainen, Erkki-Ville Wirta, Emilia Vartiainen, Paivi Sulo, Janne Ravantti, Suvi Lehtipuro, Kirsi J. Granberg, Matti Nykter, Tomas Tanskanen, Ari Ristimaki, Selja Koskensalo, Laura Renkonen-Sinisalo, Anna Lepisto, Jan Bohm, Jussi Taipale, Jukka-Pekka Mecklin, Mervi Aavikko, Kimmo Palin, Lauri A. Aaltonen
Summary: By comprehensively characterizing IBD-associated tumorigenesis using multiple high-throughput approaches, distinct mechanisms of WNT pathway dysregulation were identified in IBD-CRC, which skew the tumors towards a mesenchymal subtype. Additionally, epigenetic modifications and noncoding mutations in specific genes were found in IBD-CRC, highlighting further differences compared to sCRC.
Article
Multidisciplinary Sciences
Alessia Azzara, Ilaria Cassano, Elisa Paccagnella, Maria Cristina Tirindelli, Carolina Nobile, Valentina Schittone, Carla Lintas, Roberto Sacco, Fiorella Gurrieri
Summary: The clinical expression of COVID-19 is significantly influenced by the host genetic profile, showing high heterogeneity in symptoms and susceptibility to the disease. Familial analysis and global statistical analysis reveal significant associations between specific gene variants and SARS-CoV-2 infection and severe phenotypes.
Article
Biochemistry & Molecular Biology
Xuejie Wang, Casilda Olveira, Rosa Giron, Marta Garcia-Clemente, Luis Maiz, Oriol Sibila, Rafael Golpe, Rosario Menendez, Juan Rodriguez-Lopez, Concepcion Prados, Miguel Angel Martinez-Garcia, Juan Luis Rodriguez, David de la Rosa, Liyun Qin, Xavier Duran, Jordi Garcia-Ojalvo, Esther Barreiro
Summary: This study investigated different phenotypic characteristics in bronchiectasis patients based on neutrophil counts through biostatistics analysis, identifying two distinct clinical phenotypes. Patients with neutrophil counts above a certain threshold exhibited more severe lung function impairment, poorer nutritional status, and higher systemic inflammation compared to those below the threshold. Cluster analysis of combined systemic and respiratory variables defined well-distinguished phenotypic profiles in bronchiectasis patients.
Review
Gastroenterology & Hepatology
Sehej Parmar, Hariharan Easwaran
Summary: Recent studies have identified key genetic and epigenetic changes in colorectal cancer that play important roles in its development. These changes are associated with the heterogeneity of different molecular subtypes of CRC. Understanding the complex relationship between genetic and epigenetic alterations is crucial for comprehending the early development and subtyping of CRC.
GASTROENTEROLOGY REPORT
(2022)
Article
Medicine, General & Internal
Manfei Si, Wanxue Xu, Xinyu Qi, Huahua Jiang, Yue Zhao, Rong Li, Xiaoyu Long, Jie Qiao
Summary: Polycystic ovary syndrome (PCOS) is a metabolic disorder affecting fertility. This comprehensive study identified reliable phenotypes that can predict IVF and pregnancy outcomes in PCOS patients. The metabolic syndrome (MetS) phenotype was found to be associated with cumulative live birth, preterm birth, and gestational diabetes mellitus in PCOS patients undergoing IVF (p < 0.05), suggesting its potential for clinical management strategies.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Cell Biology
Daniel Nachun, Ake T. Lu, Alexander G. Bick, Pradeep Natarajan, Joshua Weinstock, Mindy D. Szeto, Sekar Kathiresan, Goncalo Abecasis, Kent D. Taylor, Xiuqing Guo, Russ Tracy, Peter Durda, Yongmei Liu, Craig Johnson, Stephen S. Rich, David van den Berg, Cecilia Laurie, Tom Blackwell, George J. Papanicolaou, Adolfo Correa, Laura M. Raffield, Andrew D. Johnson, Joanne Murabito, JoAnn E. Manson, Pinkal Desai, Charles Kooperberg, Themistocles L. Assimes, Daniel Levy, Jerome Rotter, Alex P. Reiner, Eric A. Whitsel, James G. Wilson, Steve Horvath, Siddhartha Jaiswal
Summary: Clonal hematopoiesis of indeterminate potential (CHIP) is strongly associated with epigenetic age acceleration, with carriers of multiple gene mutations showing the largest increase in age acceleration. About 40% of CHIP carriers have acceleration >0 in both clocks, and this subgroup is at higher risk for adverse outcomes, making them potential targets for clinical interventions.
Article
Multidisciplinary Sciences
Mustafa Buyukozkan, Sergio Alvarez-Mulett, Alexandra C. Racanelli, Frank Schmidt, Richa Batra, Katherine L. Hoffman, Hina Sarwath, Rudolf Engelke, Luis Gomez-Escobar, Will Simmons, Elisa Benedetti, Kelsey Chetnik, Guoan Zhang, Edward Schenck, Karsten Suhre, Justin J. Choi, Zhen Zhao, Sabrina Racine-Brzostek, He S. Yang, Mary E. Choi, Augustine M. K. Choi, Soo Jung Choo, Jan Krumsiek
Summary: In this study, large-scale integrative multi-omics analyses were conducted on serum samples from COVID-19 patients to uncover the pathogenic complexities and identify molecular signatures that predict clinical outcomes. A network of protein-metabolite interactions was assembled, revealing cross talk related to immune modulation, energy and nucleotide metabolism, vascular homeostasis, and collagen catabolism. A novel composite outcome measure for COVID-19 disease severity based on metabolomics data was developed and showed high predictive power.
Article
Critical Care Medicine
Sadia Haider, Raquel Granell, John Curtin, Sara Fontanella, Alex Cucco, Stephen Turner, Angela Simpson, Graham Roberts, Clare S. Murray, John W. Holloway, Graham Devereux, Paul Cullinan, Syed Hasan Arshad, Adnan Custovic
Summary: This study proposes a more comprehensive method to describe the development of wheezing and identifies five different phenotypes of wheezing. The spell-based approach proves to be more robust and able to capture the characteristics of wheezing development better than binary information.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE
(2022)
Article
Oncology
Sukh Makhnoon, Deborah J. Bowen, Brian H. Shirts, Stephanie M. Fullerton, Eric B. Larson, James D. Ralston, Kathleen A. Leppig, David R. Crosslin, David Veenstra, Gail P. Jarvik
Summary: Genetic information plays a role in family communication about colorectal cancer risk and screening, but the study found that tools like FamilyTalk did not significantly impact patient-reported outcomes in terms of privacy concerns, reactions to test results, and lifestyle changes. The limited sample size of participants with specific genetic results and the short follow-up period could have influenced the lack of significant findings.
CANCER CAUSES & CONTROL
(2021)
Review
Oncology
Jan Gerard Maring, Job F. H. Eijsink, Friso D. D. Tichelaar, Pawida Veluwenkamp-Worawutputtapong, Maarten J. J. Postma, Daan J. J. Touw, Jan Willem B. de Groot
Summary: Patient-Reported Outcome Measures (PROMs) provide valuable insights into patients' experiences and treatment outcomes. In the context of metastatic colorectal cancer (CRC), an assessment of treatment impact beyond overall survival is crucial. This review examines the use of PROMs in phase III clinical trials on systemic therapy for metastatic CRC and highlights the need for improved reporting and integration of PROM results into clinical practice.
Article
Cardiac & Cardiovascular Systems
Hong-lei Zhao, Zhi-wei Tang, Yi-fei Diao, Xiu-fan Xu, Si-chong Qian, Hai-yang Li, Yong-feng Shao, Sheng Zhao, Hong Liu
Summary: This study used latent class analysis to identify distinct inflammatory profiles in patients with type A aortic dissection (TAAD). The study found that patients with hyper-inflammatory profiles had higher mortality rates at 6 months and 30 days compared to patients with hypo-inflammatory profiles. After adjusting for potential confounders, hyper-inflammatory profiles remained associated with a higher risk of 6-month mortality.
JOURNAL OF CARDIOVASCULAR TRANSLATIONAL RESEARCH
(2023)
Review
Pathology
Celestine M. Trinidad, Carlos A. Torres-Cabala, Victor G. Prieto, Phyu P. Aung
JOURNAL OF CLINICAL PATHOLOGY
(2019)
Review
Pathology
Soheil Zorofchian, Fatima Iqbal, Mayank Rao, Phyu P. Aung, Yoshua Esquenazi, Leomar Y. Ballester
JOURNAL OF CLINICAL PATHOLOGY
(2019)
Review
Pathology
Celestine M. Trinidad, Carlos A. Torres-Cabala, Jonathan L. Curry, Victor G. Prieto, Phyu P. Aung
JOURNAL OF CLINICAL PATHOLOGY
(2019)
Article
Dermatology
Faysal Fedda, Michael R. Migden, Jonathan L. Curry, Carlos A. Torres-Cabala, Michael T. Tetzlaff, Phyu P. Aung, Victor G. Prieto, Doina Ivan, Jeffrey N. Myers, Priyadharsini Nagarajan
JOURNAL OF CUTANEOUS PATHOLOGY
(2019)
Article
Pathology
George Jour, Varshini Vasudevaraja, Victor G. Prieto, Matija Snuderl, Carlos A. Torres-Cabala, Rami Al-Rohil, Erik P. Sulman, Leomar Y. Ballester, Phyu P. Aung
Article
Pathology
Emily M. Erstine, Michael T. Tetzlaff, Xuefei Jia, Phyu P. Aung, Victor G. Prieto, Pauline Funchain, Brian R. Gastman, Steven D. Billings, Jennifer S. Ko
AMERICAN JOURNAL OF SURGICAL PATHOLOGY
(2019)
Article
Oncology
Phyu P. Aung, Narittee Sukswai, Reza Nejati, Sanam Loghavi, Weina Chen, Carlos A. Torres-Cabala, C. Cameron Yin, Marina Konopleva, Xiaofeng Zheng, Jing Wang, Zhenya Tang, L. Jeffrey Medeiros, Victor G. Prieto, Naveen Pemmaraju, Joseph D. Khoury
Review
Dermatology
Haider A. Mejbel, Kelly C. Nelson, Dinesh Pradhan, Doina Ivan, Michael Zaleski, Priyadharsini Nagarajan, Michael T. Tetzlaff, Jonathan L. Curry, Carlos A. Torres-Cabala, Victor G. Prieto, Phyu P. Aung
JOURNAL OF CUTANEOUS PATHOLOGY
(2020)
Article
Oncology
Woo Cheal Cho, George Jour, Phyu P. Aung
SEMINARS IN CANCER BIOLOGY
(2019)
Review
Oncology
Douglas Donnelly, Phyu P. Aung, George Jour
SEMINARS IN CANCER BIOLOGY
(2019)
Article
Pathology
Priyadharsini Nagarajan, Jin Piao, Jing Ning, Laura E. Noordenbos, Jonathan L. Curry, Carlos A. Torres-Cabala, A. Hafeez Diwan, Doina Ivan, Phyu P. Aung, Merrick Ross, Richard E. Royal, Jennifer A. Wargo, Wei-Lien Wang, Rashmi Samdani, Alexander J. Lazar, Asif Rashid, Michael A. Davies, Victor G. Prieto, Jeffrey E. Gershenwald, Michael T. Tetzlaff
Article
Oncology
Haider A. Mejbel, Sri Krishna C. Arudra, Dinesh Pradhan, Carlos A. Torres-Cabala, Priyadharsini Nagarajan, Michael T. Tetzlaff, Jonathan L. Curry, Doina Ivan, Dzifa Y. Duose, Raja Luthra, Victor G. Prieto, Leomar Y. Ballester, Phyu P. Aung
Article
Oncology
Dinesh Pradhan, George Jour, Denai Milton, Varshini Vasudevaraja, Michael T. Tetzlaff, Priyadharsini Nagarajan, Jonathan L. Curry, Doina Ivan, Lihong Long, Yingwen Ding, Ravesanker Ezhilarasan, Erik P. Sulman, Adi Diab, Wen-Jen Hwu, Victor G. Prieto, Carlos Antonio Torres-Cabala, Phyu P. Aung
Article
Biology
Pavandeep Gill, Phyu P. Aung
Summary: This article reviews the clinical, histomorphological, immunohistochemical, molecular, and cytogenetic characteristics of atypical deep penetrating nevus (DPN) in order to better understand the prognosis and possible treatment approaches for these lesions.
Review
Dermatology
Celestine M. Trinidad, Sintawat Wangsiricharoen, Victor G. Prieto, Phyu P. Aung
Summary: Dermatofibrosarcoma protuberans (DFSP) is a dermal malignant mesenchymal tumor with a high risk of local recurrence and a low risk of metastasis. The classic histomorphology is characterized by uniform, spindle-shaped cells arranged in a storiform pattern, with infiltration into the subcutis. Different variants of DFSP have been identified, including fibrosarcomatous DFSP, which has a greater risk of local recurrence and metastasis. Other variants may pose diagnostic difficulties as they resemble other spindle cell neoplasms.