Article
Medicine, General & Internal
Huiyan Luan, Lei Zhang, Sijin Zhang, Meng Zhang
Summary: This case report presents a Chinese girl diagnosed with familial hemiplegic migraine type 1 through genetic and clinical assessment. Prophylactic therapy with flunarizine did not show improvement in the intensity of attacks in this patient.
Article
Oncology
Min Ruan, Lipeng Liu, Benquan Qi, Xiaoyan Chen, Lixian Chang, Aoli Zhang, Fang Liu, Shuchun Wang, Xiaoming Liu, Xiaojuan Chen, Li Zhang, Ye Guo, Yao Zou, Yingchi Zhang, Yumei Chen, LiXia Liu, Shanbo Cao, Feng Lou, Chengcheng Wang, Xiaofan Zhu
Summary: This study validates the diagnostic role of circulating tumor DNA in pediatric AML based on next-generation sequencing, showing that ctDNA can mirror genomic information from bone marrow and detect mutations exclusively. Monitoring ctDNA with NGS-based assays provides valuable information for precision treatment in pediatric AML.
FRONTIERS IN ONCOLOGY
(2021)
Article
Urology & Nephrology
Jose Lazaro-Guevara, Julio Fierro-Morales, A. Hunter Wright, River Gunville, Christopher Simeone, Scott G. Frodsham, Melissa H. Pezzolesi, Courtney A. Zaffino, Laith Al-Rabadi, Nirupama Ramkumar, Marcus G. Pezzolesi
Summary: This study investigated the genetic basis of nondiabetic kidney disease (NDKD) and diabetic kidney disease (DKD) through targeted NGS, finding rare diagnostic variants consistent with clinical diagnoses in 19% of NDKD patients and in 22% of DKD patients. Additionally, genetic variants suggestive of NDKD were detected in 3% of diabetic patients. These findings suggest that rare variants in kidney disease-related genes may contribute to the pathogenesis of DKD and NDKD in patients with diabetes.
AMERICAN JOURNAL OF NEPHROLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Nida Anwar, Faheem Ahmed Memon, Saba Shahid, Muhammad Shakeel, Muhammad Irfan, Aisha Arshad, Arshi Naz, Ikram Din Ujjan, Tahir Shamsi
Summary: Sequencing studies on MDS patients in Pakistan revealed various genetic mutations associated with myeloid malignancies, including mutations not previously observed in MDS or AML. These findings highlight the importance of molecular profiling in diagnosis and treatment of MDS patients in countries with limited resources like Pakistan. Further research with larger sample sizes is necessary to compare molecular characteristics between Asian and global populations.
Article
Oncology
Margherita Rimini, Eleonora Loi, Carles Fabregat-Franco, Valentina Burgio, Sara Lonardi, Monica Niger, Mario Scartozzi, Ilario G. Raposelli, Giuseppe Aprile, Francesca Ratti, Federica Pedica, Helena Verdaguer, Mario Rizzato, Federico Nichetti, Eleonora Lai, Alessandro Cappetta, Teresa Macarulla, Matteo Fassan, Filippo De Braud, Andrea Pretta, Francesca Simionato, Francesco De Cobelli, Luca Aldrighetti, Lorenzo Fornaro, Stefano Cascinu, Zavattari Patrizia, Andrea Casadei-Gardini
Summary: This study identified three mutation-based clusters in IDH1-mutated intrahepatic cholangiocarcinomas (IDH1m iCCAs) and demonstrated their prognostic significance.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Clinical Neurology
Jakub Scaber, Alexander G. Thompson, Lucy Farrimond, Emily Feneberg, Malcolm Proudfoot, Lynn Ossher, Martin R. Turner, Kevin Talbot
Summary: This study demonstrates that expanding genetic testing to all patients diagnosed with ALS can enhance recruitment potential for clinical trials, but also has significant resource implications for genetic counseling.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Physiology
Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Beatrice Thivichon-Prince, Tatjana Dostalova, Milan Macek Jr, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzua Orellana, Marie-Cecile Maniere, Benedicte Gerard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter
Summary: In this study, next-generation sequencing was used to analyze a cohort of Amelogenesis imperfecta (AI) patients, revealing more than 70 genes associated with AI. The findings showed that 73% of the cases were non-syndromic AI and 27% were syndromic AI. The genetic diagnosis provided important insights for the diagnosis and treatment of AI. This study demonstrated the potential of next-generation sequencing in AI research and provided new insights into the classification and treatment of AI.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Pathology
So Young Kang, Deok Geun Kim, Soomin Ahn, Sang Yun Ha, Kee-Taek Jang, Kyoung-Mee Kim
Summary: Checkpoint inhibitor approval for microsatellite instability-high (MSI-H) tumors has made MSI a therapeutically important biomarker. Next-generation sequencing (NGS)-based MSI detection is being widely used, but its relevance to MSI-PCR and mismatch repair deficiency (dMMR) is unclear. In this study, NGS-MSI results were compared with MSI-PCR and MMR IHC results to define cut-off points for MSI in order to facilitate therapeutic decision-making.
PATHOLOGY RESEARCH AND PRACTICE
(2022)
Article
Biotechnology & Applied Microbiology
Songbai Zheng, Xiaodan Wang, Ying Fu, Beibei Li, Jianhua Xu, Haifang Wang, Zhen Huang, Hui Xu, Yurong Qiu, Yaozhou Shi, Kui Li
Summary: This study investigated genetic variations in Chinese NSCLC patients using next-generation sequencing, identifying common mutated genes and genes with copy number variation. GO and KEGG analyses revealed that these genes were mainly involved in tumor-related signaling pathways such as PI3K-Akt, FoxO, and Ras.
Article
Oncology
Li-Cheng Tan, Wan-Lin Liu, Xiao-Li Zhu, Peng-Cheng Yu, Xiao Shi, Pei-Zhen Han, Ling Zhang, Liang-Yu Lin, Arseny Semenov, Yu Wang, Qing-Hai Ji, Dong-Mei Ji, Yu-Long Wang, Ning Qu
Summary: By combining cytology and genetic background, the accuracy of diagnosis in thyroid nodules can be enhanced. Next-generation sequencing technology can improve preoperative diagnosis sensitivity and guide medication direction in thyroid nodules. Clinicians can use cytology along with genetic alterations for a more precise diagnosis strategy.
FRONTIERS IN ONCOLOGY
(2021)
Article
Obstetrics & Gynecology
Serdar E. Bulun, Sule Yildiz, Mazhar Adli, Jian-Jun Wei
Summary: Adenomyosis is a challenging uterine disorder with unclear origins, involving contributions from abnormal endometrial tissue and smooth muscle cells. Recent studies suggest a link between adenomyosis and endometriosis in terms of cell origins, indicating both diseases arise from endometrial cell populations carrying specific driver mutations.
HUMAN REPRODUCTION UPDATE
(2021)
Article
Genetics & Heredity
So Young Kang, Deok Geun Kim, Hyunjin Kim, Yoon Ah Cho, Sang Yun Ha, Ghee Young Kwon, Kee-Taek Jang, Kyoung-Mee Kim
Summary: This study validates the sensitivity of PCR for detecting TERT promoter mutations by comparing the results of PCR kit and NGS. The presence of TERT mutations was successfully verified in all 103 cases using PCR. The average read depth of the TERT promoter region was lower compared to other genes, with significantly higher depth at C250 compared to C228.
BMC MEDICAL GENOMICS
(2022)
Article
Oncology
Yueyun Ma, Wenjie Li, Shiyu Chen, Shuimiao Lin, Sijie Ding, Xiaomei Zhou, Tongxin Liu, Rong Wang, Wei Wang
Summary: In this study, a comprehensive analysis was performed on patients with advanced or metastatic esophageal cancer who underwent next-generation sequencing (NGS). Mutations in 227 genes were identified, with TP53, NQO1, DPYD, GSTM1, XRCC1 and ERCC1 being the most common. Patients who received NGS-guided therapy showed improved clinical outcomes. The study highlights the importance of NGS in precision therapy for esophageal cancer.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Biochemistry & Molecular Biology
Sanjay Joshi, Hadia Awan, Priyanka Paul, Ran Tian, Sharyn E. Perry
Summary: AGL15, a member of the MADS-domain transcription factor family, primarily accumulates in plant embryos and promotes plant regeneration. Through the use of different technological platforms, researchers have identified an interaction between AGL15 and the brassinosteroid hormone signaling pathway.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Pathology
Moonsik Kim, Jinhee Kim, An Na Seo, Ji Yun Jeong, Nora Jee-Young Park, Gun Oh Chong, Dae Gy Hong, Ji Young Park
Summary: This study provides a detailed analysis of the immunostaining pattern of oncogenic PTEN missense mutations and suggests that complementary testing using both immunostaining and next-generation sequencing is necessary to accurately evaluate the PTEN status in malignancy.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Letter
Public, Environmental & Occupational Health
Alex Ryutov, Xiaowu Gai, Dejerianne Ostrow, Dennis T. Maglinte, Jessica Flores, Edahrline J. Salas, Marisa Glucoft, Michael Smit, Jennifer Dien Bard
INFECTION CONTROL AND HOSPITAL EPIDEMIOLOGY
(2022)
Article
Medicine, General & Internal
Thao T. Truong, Alex Ryutov, Utsav Pandey, Rebecca Yee, Lior Goldberg, Deepa Bhojwani, Paibel Aguayo-Hiraldo, Benjamin A. Pinsky, Andrew Pekosz, Lishuang Shen, Scott D. Boyd, Oliver F. Wirz, Katharina Roltgen, Moiz Bootwalla, Dennis T. Maglinte, Dejerianne Ostrow, David Ruble, Jennifer H. Han, Jaclyn A. Biegel, Maggie Li, ChunHong Huang, Malaya K. Sahoo, Pia S. Pannaraj, Maurice O'Gorman, Alexander R. Judkins, Xiaowu Gai, Jennifer Dien Bard
Summary: The study highlights the concern that persistent infection of SARS-CoV-2 in immunocompromised hosts may lead to mutation accumulation and emergence of strains that evade immune responses. There is a need to reassess infection control precautions and consider routine surveillance of mutations for their potential impact on viral transmission and immune escape.
Article
Oncology
Liya Xu, Mary E. Kim, Ashley Polski, Rishvanth K. Prabakar, Lishuang Shen, Chen-Ching Peng, Mark W. Reid, Patricia Chevez-Barrios, Jonathan W. Kim, Rachana Shah, Rima Jubran, Peter Kuhn, David Cobrinik, Jaclyn A. Biegel, Xiaowu Gai, James Hicks, Jesse L. Berry
Summary: This study demonstrates the clinical utility of molecular profiling of aqueous humor (AH) in retinoblastoma patients, providing valuable information for diagnosis, prognosis, and treatment response monitoring. Liquid biopsy using AH allows for the detection of tumor-derived biomarkers with a potential for personalized treatment.
Article
Biochemistry & Molecular Biology
Deborah H. Im, Chen-Ching Peng, Liya Xu, Mary E. Kim, Dejerianne Ostrow, Venkata Yellapantula, Moiz Bootwalla, Jaclyn A. Biegel, Xiaowu Gai, Rishvanth K. Prabakar, Peter Kuhn, James Hicks, Jesse L. Berry
Summary: This study investigated the presence of ctDNA in AH of UM eyes for genetic analysis. It found that post-radiation AH had higher concentrations of DNA and miRNA compared to pre-radiation samples. Highly recurrent UM SCNAs were detected in post-radiation CB AH, and there was high concordance between SCNAs in CB AH and matched tumors. BAP1 or GNAQ variants were also identified in post-radiation AH samples. AH can serve as a liquid biopsy for UM.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Letter
Microbiology
John A. Fissel, Javier Mestas, Pei Ying Chen, Jessica Flores-Vazquez, Thao T. Truong, Moiz Bootwalla, Dennis T. Maglinte, Xiaowu Gai, Jennifer Dien Bard
JOURNAL OF CLINICAL MICROBIOLOGY
(2022)
Article
Cell Biology
Kristiyana Kaneva, Theodore G. Schurr, Tatiana V. Tatarinova, Jonathan Buckley, Daria Merkurjev, Petr Triska, Xiyu Liu, James Done, Dennis T. Maglinte, Dennis Deapen, Amie Hwang, Joshua D. Schiffman, Timothy J. Triche, Jaclyn A. Biegel, Xiaowu Gai
Summary: Based on current studies, the incidence of Ewing sarcoma (ES) varies significantly by race and ethnicity, with the disease being most common in patients of European ancestry. Through whole-genome sequencing of 420 pediatric ES patients in the United States, it was found that European mitochondrial and nuclear ancestries were enriched in ES patients, while African ancestries were impoverished.
Article
Clinical Neurology
Elizabeth McCormick, Kierstin P. Keller, Julie J. Taylor, Alison Coffey, Lishuang Shen, Danuta Krotoski, Brian Harding, Xiaowu J. Gai, Marni Falk, Zarazuela Zolkipli-Cunningham, Shamima Rahman
Summary: The Clinical Genome Resource's expert panel has systematically evaluated the gene-disease relationships for Leigh syndrome, a type of mitochondrial disease. They identified 114 genes associated with Leigh syndrome, which will improve diagnostic accuracy, expedite genetic diagnosis, and facilitate the development of precision medicine.
ANNALS OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Francisco Lopera, Claudia Marino, Anita S. Chandrahas, Michael O'Hare, Nelson David Villalba-Moreno, David Aguillon, Ana Baena, Justin S. Sanchez, Clara Vila-Castelar, Liliana Ramirez Gomez, Natalia Chmielewska, Gabriel M. Oliveira, Jessica Lisa Littau, Kristin Hartmann, Kyungeun Park, Susanne Krasemann, Markus Glatzel, Dorothee Schoemaker, Lucia Gonzalez-Buendia, Santiago Delgado-Tirado, Said Arevalo-Alquichire, Kahira L. Saez-Torres, Dhanesh Amarnani, Leo A. Kim, Randall C. Mazzarino, Harper Gordon, Yamile Bocanegra, Andres Villegas, Xiaowu Gai, Moiz Bootwalla, Jianling Ji, Lishuang Shen, Kenneth S. Kosik, Yi Su, Yinghua Chen, Aaron Schultz, Reisa A. Sperling, Keith Johnson, Eric M. Reiman, Diego Sepulveda-Falla, Joseph F. Arboleda-Velasquez, Yakeel T. Quiroz
Summary: This case report describes an individual heterozygous for a rare RELN-COLBOS variant that confers resilience to Alzheimer's disease. Comparison with a previously reported case revealed common features, including high amyloid plaque burden and limited Tau tangle burden. The individual carried a rare variant in the RELN gene and showed stronger activation of Dab1 and reduced Tau phosphorylation. This genetic variant suggests a role for RELN signaling in resilience to dementia.
Article
Oncology
Eirini Christodoulou, Venkata Yellapantula, Katrina O'Halloran, Liya Xu, Jesse L. L. Berry, Jennifer A. A. Cotter, Anya Zdanowicz, Leo Mascarenhas, James F. F. Amatruda, Dejerianne Ostrow, Moiz Bootwalla, Xiaowu Gai, Fariba Navid, Jaclyn A. A. Biegel
Summary: We developed a liquid biopsy platform using low-pass whole genome sequencing and targeted sequencing of cfDNA to detect CNAs and gene fusions in pediatric solid tumors. The platform showed clinical applicability in evaluating a variety of solid tumors in pediatric patients, with high concordance to existing methods. The detection of ctDNA and mutations in plasma samples further supported the feasibility of the platform.
NPJ PRECISION ONCOLOGY
(2023)
Meeting Abstract
Oncology
Deborah H. Im, Chen-Ching Peng, Liya Xu, Mary E. Kim, Dejerianne Ostrow, Venkata Yellapantula, Moiz Bootwalla, Jaclyn A. Biegel, Xiaowu Gai, Peter Kuhn, James Hicks, Jesse L. Berry
Meeting Abstract
Oncology
Eirini Christodoulou, Dejerianne Ostrow, Anya Zdanowicz, Venkata Yellapantula, Cameron O'Connell, Moiz Bootwalla, Pan Yachen, Jennifer Cotter, James Amatruda, Leo Mascarenhas, Fariba Navid, Gai Xiaowu, Jaclyn Biegel
Meeting Abstract
Ophthalmology
Deborah Im, Chen-Ching Peng, Liya Xu, Mary Elizabeth Kim, Dejerianne Ostrow, Venkata Yellapantula, Moiz Bootwalla, Jaclyn A. Biegel, Xiaowu Gai, Peter Kuhn, James Hicks, Jesse L. Berry
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2022)
Article
Oncology
Shaobo Li, Xiaowu Gai, Swe Swe Myint, Katti Arroyo, Libby Morimoto, Catherine Metayer, Adam J. de Smith, Kyle M. Walsh, Joseph L. Wiemels
Summary: This study identifies a potential role of functional mitochondrial ribosomal RNA variant in childhood glioblastoma risk and suggests the involvement of both mitochondrial and nuclear-mitochondrial DNA polymorphisms in GBM tumorigenesis.
NEURO-ONCOLOGY ADVANCES
(2022)
Meeting Abstract
Oncology
Katrina O'Halloran, Dejerianne Ostrow, Eirini Christodoulou, Moiz Bootwalla, Venkata Yellapantula, Nicholas Chapman, Peter Chiarelli, Jason Chu, Mark Krieger, Xiaowu Gai, Jaclyn Biegel
Meeting Abstract
Ophthalmology
Elyssa Wong, Liya Xu, Lishuang Shen, Mary E. Kim, Ashley Polski, Rishvanth K. Prabakar, Rachana Shah, Rima Jubran, Jonathan Kim, Jaclyn A. Biegel, Xiaowu Gai, Peter Kuhn, James Hicks, Jesse L. Berry
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
(2021)