Article
Hematology
Sara Beygi, George E. Duran, Sebastian Fernandez-Pol, Alain H. Rook, Youn H. Kim, Michael S. Khodadoust
Summary: Resistance to mogamulizumab in mycosis fungoides and Sezary syndrome is often associated with loss of CCR4 expression and emergence of CCR4 genomic alterations. This finding has significant implications for the management and monitoring of patients receiving mogamulizumab and the development of future CCR4-directed therapies.
Editorial Material
Hematology
Margarita Sanchez-Beato
Summary: This study expands the list of potential driver genes in CTCL and demonstrates that PDCD1 deletion can reverse T-cell exhaustion signatures, leading to a worse prognosis.
Article
Genetics & Heredity
Ying Xu, Jia-Yi Wu, Qing-Jie Liu, Jia-Yu Xue
Summary: By studying the genomes of 999 Bacillus species, including 47 different species, it was found that three critical genes (SrfAA, SrfAB, and SrfAC) could be divided into 66 orthologous gene groups. These genes showed high sequence similarity and were not grouped monophyletically, but rather scattered. The study suggests that self-duplication and tandem duplication might have played a role in the initial establishment of the SrfA operon, while gene fusion, recombination, and accumulated mutations continuously shaped the different functional roles of SrfAA, SrfAB, and SrfAC. This research provides new insights into metabolic gene clusters and operon evolution in bacteria.
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
Dermatology
Abdullah S. Algarni, Caroline Ram-Wolff, Martine Bagot, Adele De Masson
Summary: Three patients with Sezary syndrome treated with mogamulizumab developed vitiligo, suggesting it may be an immune side effect of the treatment and potentially a favorable predictive factor for treatment response.
EUROPEAN JOURNAL OF DERMATOLOGY
(2021)
Article
Oncology
Gerben Lassche, Sjoerd van Helvert, Astrid Eijkelenboom, Martijn J. H. Tjan, Erik A. M. Jansen, Patricia H. J. van Cleef, Gerald W. Verhaegh, Eveline J. Kamping, Katrien Grunberg, Adriana C. H. van Engen-van Grunsven, Marjolijn J. L. Ligtenberg, Carla M. L. van Herpen
Summary: This research aimed to assess the prevalence of actionable aberrations in salivary gland cancer (SGC) and identified several new gene fusions. Targets for genetically matched therapies were found in different SGC subtypes. This highlights the potential importance of molecular diagnostics in selecting systemic treatment for SGC.
Article
Multidisciplinary Sciences
Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, Sawako Masuda, Sayaka Katsunuma, Kaoru Ogawa, Tatsuo Matsunaga
Summary: This study reveals phenotypic and genetic differences between patients with typical and atypical BOR syndrome. Four novel EYA1 P/LP variants were identified in atypical BOR syndrome patients. The presence of branchial anomaly, inner ear anomaly, and mixed hearing loss is correlated with P/LP variants. The development of refined diagnostic criteria and phenotypic indices will aid in the effective detection of patients with P/LP variants among those suspected of having BOR syndrome.
SCIENTIFIC REPORTS
(2022)
Article
Medicine, General & Internal
Rong Dong, Shang Gao, Meng-Jie Shan
Summary: By analyzing gene expression data of PCOS and transsexuals, 5 central genes were identified, which may cause ubiquitination of androgen receptor and lead to follicular growth arrest. These genes can serve as targets for early diagnosis or treatment of PCOS.
Article
Biochemistry & Molecular Biology
Catalina Garcia-Vielma, Luis Gerardo Lazalde-Cordova, Jose Cruz Arzola-Hernandez, Erick Noel Gonzalez-Aceves, Herminio Lopez-Zertuche, Nancy Elena Guzman-Delgado, Francisco Gonzalez-Salazar
Summary: The objective of this study was to identify genetic variants in Mexican patients diagnosed with hypertrophic cardiomyopathy (HCM). Next-generation sequencing was performed on a panel of 168 genes associated with heart disease and sudden death. The study identified twelve pathogenic or probably pathogenic variants, including five that were not previously reported in public databases.
MOLECULAR GENETICS AND GENOMICS
(2023)
Article
Oncology
Xiao-Dong Jiao, Ke Liu, Mingyan Xu, Guanzhen Yu, Danni Liu, Tanxiao Huang, Bao-Dong Qin, Ming Liu, Ying Wu, Yan Ling, Jun Liu, Xi He, Liangzhe Wang, Yingmei Li, Shifu Chen, Yuan-Sheng Zang
Summary: This article reports a successful treatment of advanced metastatic low-grade sarcoma patient with an accurate molecular pathological diagnosis obtained through NGS, followed by oral crizotinib therapy for 40 months. Whole genome sequencing analysis revealed a possible whole genome duplication event in the tumor.
Article
Genetics & Heredity
Hiroko Fukushima, Ryoko Suzuki, Yuni Yamaki, Sho Hosaka, Masako Inaba, Wataru Morii, Emiko Noguchi, Hidetoshi Takada
Summary: This study conducted germline genetic analysis on children with RMS and identified pathogenic variants in cancer-predisposition genes, particularly a correlation between missense variants of the LIG4 gene and long-term comorbidities. Exon sequencing may be useful in elucidating the pathogenesis of RMS.
JOURNAL OF HUMAN GENETICS
(2022)
Article
Medicine, General & Internal
Yisheng Peng, Zhengli Liu, Guanqi Fu, Boxiang Zhao, Maofeng Gong, Zhaoxuan Lu, Yangyi Zhou, Liang Chen, Haobo Su, Wensheng Lou, Guoping Chen, Xu He, Jianping Gu, Jie Kong
Summary: This study aimed to identify the signaling pathways and immune microenvironments related to elderly stroke patients. It was found that increased age was significantly positively correlated with myeloid-derived suppressor cells and natural killer T cells, and negatively correlated with immature dendritic cells.
Article
Multidisciplinary Sciences
Alanna Strong, Meckenzie Behr, Carina Lott, Abigail J. Clark, Frank Mentch, Renata Pellegrino Da Silva, Danielle R. Rux, Robert Campbell, Cara Skraban, Xiang Wang, Jason B. Anari, Benjamin Sinder, Patrick J. Cahill, Patrick Sleiman, Hakon Hakonarson
Summary: Thoracic insufficiency syndromes are a group of genetically and phenotypically heterogeneous disorders characterized by chest and/or vertebral abnormalities that lead to restricted lung function and compromised respiratory capacity. By conducting whole exome sequencing on 42 children with thoracic insufficiency, we identified molecular causes and predicted the progression of the disease. A significant proportion of the patients had gene mutations in components of the primary cilium, connective tissue, and extracellular matrix. We discovered a novel association between KIF7 and USP9X variants and thoracic insufficiency, expanding the understanding of genetic and phenotypic spectrum of this condition.
SCIENTIFIC REPORTS
(2023)
Article
Cell Biology
You Zhou, Bin Xu, Yi Zhou, Jian Liu, Xiao Zheng, Yingting Liu, Haifeng Deng, Ming Liu, Xiubao Ren, Jianchuan Xia, Xiangyin Kong, Tao Huang, Jingting Jiang
Summary: This study identified dozens of new genes with potential diagnostic and therapeutic value in LUAD through differential correlation analysis, providing new insights into the gene regulatory mechanisms during the transition from normal to tumor.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Yue Wu, Lingping Yang, Xianglu Wu, Lidan Wang, Hongbo Qi, Qian Feng, Bin Peng, Yubin Ding, Jing Tang
Summary: Revealing key genes and elucidating pathogenic mechanism of PCOS is crucial for targeted clinical therapy. Integrating PCOS-associated molecules, an integrative PPMI network identified potential PCOS-associated genes and significant differences in PCOS-specific tissue. The novel gene FXR2 was found to be significantly increased in PCOS patients' ovarian granulosa cells.
Article
Oncology
Julia Eckardt, Christopher Schroeder, Peter Martus, Sorin Armeanu-Ebinger, Olga Kelemen, Axel Gschwind, Irina Bonzheim, Thomas Eigentler, Teresa Amaral, Stephan Ossowski, Olaf Riess, Lukas Flatz, Claus Garbe, Andrea Forschner
Summary: BRAF mutation status and tumor mutational burden (TMB) were found to be independent predictive factors for relapse-free survival (RFS) in melanoma patients receiving adjuvant anti-PD-1 therapy. Patients with BRAF V600E/K mutation and high TMB had the best outcomes. A classification based on BRAF mutation status and TMB is proposed to predict RFS in these patients.
JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY
(2023)
Article
Genetics & Heredity
Laura Castilla-Vallmanya, Monica Centeno-Pla, Mercedes Serrano, Hector Franco-Valls, Raul Martinez-Cabrera, Aina Prat-Planas, Elena Rojano, Juan A. G. Ranea, Pedro Seoane, Clara Oliva, Abraham J. Paredes-Fuentes, Gemma Marfany, Rafael Artuch, Daniel Grinberg, Raquel Rabionet, Susanna Balcells, Roser Urreizti
Summary: Schaaf-Yang syndrome (SYS) is a genetic disorder caused by truncating mutations in the MAGEL2 gene. This study found that SYS patients have decreased levels of secreted A beta(1-40) peptide and identified several differentially expressed genes. The truncated form of MAGEL2 protein is stable and mainly localizes in the nucleus, suggesting it may exert a pathogenic effect. Understanding these findings may improve the management of SYS.
JOURNAL OF MEDICAL GENETICS
(2023)
Article
Hematology
Salvador Carrillo-Tornel, Tzu Hua Chen-Liang, Maria Zurdo, Anna Puiggros, Andrea Gomez-Llonin, Maria Dolores Garcia-Malo, Ernesto Jose Cuenca-Zamora, Francisco Jose Ortuno, Ana Maria Hurtado Lopez, Blanca Espinet, Andres Jerez
Summary: Prior studies have shown that chronic lymphocytic leukemia (CLL) has an indolent course due to dysregulated cyclin genes keeping most cells in the G(0)-G(1) cell cycle phase. This dysregulation is also observed in T lymphoblastic leukemia with NOTCH1 mutation. This study aimed to comprehensively investigate the cell cycle in NOTCH1-mutated CLL and identify potential therapeutic targets. The results revealed a distinct transcriptome profile in NOTCH1-mutated CLL cells, with an overexpression of early-phase effectors and increased cell cycling. Inhibition of NOTCH1 gamma-secretase and CDK4/6 showed promise as new therapeutic approaches for targeting NOTCH1-mutated CLL.
BRITISH JOURNAL OF HAEMATOLOGY
(2023)
Article
Oncology
Cristiana Roggia, Sorin Armeanu-Ebinger, Axel Gschwind, Olga Seibel-Kelemen, Sonja Hertler, Ulrike Faust, Alexandra Liebmann, Tobias B. Haack, Manuela Neumann, Irina Bonzheim, Andrea Forschner, Hans-Georg Kopp, Franziska Herster, Andreas Hartkopf, Michael Bitzer, Nisar P. Malek, Ines B. Brecht, Kristina Ruhm, Yvonne Moeller, Hubert Loewenheim, Stephan Ossowski, Olaf H. Riess, Christopher Schroeder
Summary: Sequencing of tumour tissue with gene panels is used for precision oncology. Tumour-normal pairs allow discrimination between somatic and germline alterations, which is important for patients and families.
EUROPEAN JOURNAL OF CANCER
(2023)
Letter
Hematology
Marie Solange Flores-Moran, Juan Jose Rodriguez-Sevilla, Leonor Arenillas, Xavier Calvo, Ana Puiggros, Blanca Espinet, Beatriz Costan, Maria Rodriguez-Rivera, Marta Salido, Ana Ferrer del Alamo
INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY
(2023)
Article
Oncology
Suzana Mittelstadt, Olga Kelemen, Jakob Admard, Axel Gschwind, Andre Koch, Sarah Woerz, Ernst Oberlechner, Tobias Engler, Irina Bonzheim, Annette Staebler, Nicola Weidner, Frank Stubenrauch, Thomas Iftner, Olaf Riess, Christopher Schroeder, Stefan Kommoss, Stephan Ossowski
Summary: This study found that cell-free circulating HPV-DNA in plasma can serve as a biomarker for therapy monitoring in cervical cancer. It is correlated with tumor burden and can be used to detect treatment response and relapse.
BRITISH JOURNAL OF CANCER
(2023)
Article
Clinical Neurology
Iulian V. Podar, Daniel A. P. Gutmann, Florian Harmuth, Tobias B. Haack, Stephan Ossowski, Holger Hengel, Antje Bornemann, Ludger Schoels, Oliver Neuhaus
Summary: This case report describes a Caucasian female patient who presented with paroxysmal encephalopathy twice. Diagnosis was made using various methods including neurocranium magnetic resonance imaging, skin biopsy for histology, and long-read genome sequencing. The patient's MRI findings were consistent with typical features of adult onset neuronal intranuclear inclusion disease. Skin biopsy confirmed the presence of intranuclear inclusion bodies, and long-read genome sequencing revealed an expansion of the GGC repeat in exon 1 of NOTCH2NLC. This case highlights the possibility of adult onset NOTCH2NLC-GGC-positive NIID in non-Asian individuals.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Antonio Jose Cabrera-Serrano, Jose Manuel Sanchez-Maldonado, Rob ter Horst, Angelica Macauda, Paloma Garcia-Martin, Yolanda Benavente, Stefano Landi, Alyssa Clay-Gilmour, Yasmeen Niazi, Blanca Espinet, Juan Jose Rodriguez-Sevilla, Eva Maria Perez, Rossana Maffei, Gonzalo Blanco, Matteo Giaccherini, James R. Cerhan, Roberto Marasca, Miguel Angel Lopez-Nevot, Tzu Chen-Liang, Hauke Thomsen, Irene Gamez, Daniele Campa, Victor Moreno, Silvia de Sanjose, Rafael Marcos-Gragera, Maria Garcia-Alvarez, Trinidad Dierssen-Sotos, Andres Jerez, Aleksandra Butrym, Aaron D. Norman, Mario Luppi, Susan L. Slager, Kari Hemminki, Yang Li, Sonja I. Berndt, Delphine Casabonne, Miguel Alcoceba, Anna Puiggros, Mihai G. Netea, Asta Foersti, Federico Canzian, Juan Sainz
Summary: Chronic lymphocytic leukemia (CLL) is the most common leukemia among adults worldwide. However, a study found that the GWAS-identified risk variants for CLL do not significantly impact overall survival and disease progression in CLL patients. The polygenic risk scores (PRSs) built with these risk variants also have limited accuracy in predicting patient survival and disease progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Computer Science, Information Systems
Caroline Stellmach, Julian Sass, Bernd Auber, Martin Boeker, Thomas Wienker, Andrew J. Heidel, Manuela Benary, Simon Schumacher, Stephan Ossowski, Frederick Klauschen, Yvonne Moeller, Rita Schmutzler, Arsenij Ustjanzew, Patrick Werner, Aurelie Tomczak, Thimo Hoelter, Sylvia Thun
Summary: The objective of this study was to develop a dataset definition, information model, and FHIR specification for key data elements in a German MolGen report. A core dataset of 76 data elements was created and a FHIR specification with 16 profiles was developed. This report can serve as a template for creating a standard format for unstructured genomic report data.
JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
(2023)
Article
Genetics & Heredity
Luis Zapata, Giulio Caravagna, Marc J. Williams, Eszter Lakatos, Khalid AbdulJabbar, Benjamin Werner, Diego Chowell, Chela James, Lucie Gourmet, Salvatore Milite, Ahmet Acar, Nadeem Riaz, Timothy A. A. Chan, Trevor A. Graham, Andrea Sottoriva
Summary: In cancer, clones that can evade the immune system are selected by evolutionary forces. By analyzing thousands of primary tumors and immune-checkpoint-treated metastases, researchers have measured immune selection using immune dN/dS, which is the ratio of nonsynonymous to synonymous mutations in the immunopeptidome. This analysis helps differentiate between immune-edited and immune-escaped tumors and predicts the response to immunotherapies.
Article
Immunology
Miriam Rodi, Caspar Gross, Thaisa Lucas Sandri, Lilith Berner, Marina Marcet-Houben, Ersoy Kocak, Michaela Pogoda, Nicolas Casadei, Carsten Koehler, Andrea Kreidenweiss, Selidji Todagbe Agnandji, Toni Gabaldon, Stephan Ossowski, Jana Held
Summary: This study investigated the relationship between Mansonella perstans and a potential new species called Mansonella sp DEUX in Gabon. By screening individuals in the area and generating whole genome data, it was found that Mansonella sp DEUX is a new Mansonella species. The availability of whole genome data will facilitate further research on these species.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Genetics & Heredity
Dennis Witt, Ulrike Faust, Gertrud Strobl-Wildemann, Marc Sturm, Rebecca Buchert, Theresia Zuleger, Jakob Admard, Nicolas Casadei, Stephan Ossowski, Tobias B. Haack, Olaf Riess, Christopher Schroeder
Summary: This study used clinical genome sequencing and transcriptome sequencing to successfully detect a genetic variant in a patient with Lynch syndrome that could not be found using standard diagnostic tests. It also identified an previously undetected structural variant and identified additional high-risk family members through segregation analysis. The study highlights the advantages of clinical genome sequencing in detecting structural variants.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2023)
Editorial Material
Dermatology
Mariia Rivera, Emilio Lopez-Trujillo, Andrea Ciuda, Gemma Martin-Ezquerra, Ramon M. Pujol
Summary: We present a case of a 60-year-old patient who had several flares of nonscaling, erythematous, urticarial annular skin lesions on her abdomen, buttocks and proximal extremities, possibly related to COVID-19 vaccination. The skin biopsy revealed a dense infiltration of lymphocytes and abundant eosinophils, suggesting an inflammatory response.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2023)
Article
Oncology
Mirjam Renovanz, Sylvia C. Kurz, Johannes Rieger, Bianca Walter, Hannes Becker, Hanni Hille, Paula Bombach, David Rieger, Lucia Grosse, Lara Haeusser, Marco Skardelly, Daniel J. Merk, Frank Paulsen, Elgin Hoffmann, Cihan Gani, Manuela Neumann, Rudi Beschorner, Olaf Riess, Cristiana Roggia, Christopher Schroeder, Stephan Ossowski, Sorin Armeanu-Ebinger, Axel Gschwind, Saskia Biskup, Martin Schulze, Falko Fend, Stephan Singer, Lars Zender, Claudia Lengerke, Sara Yvonne Brucker, Tobias Engler, Andrea Forschner, Arnulf Stenzl, Oliver Kohlbacher, Sven Nahnsen, Gisela Gabernet, Sven Fillinger, Benjamin Bender, Ulrike Ernemann, Oeznur Oener, Janina Beha, Holly Sundberg Malek, Yvonne Moeller, Kristina Ruhm, Marcos Tatagiba, Jens Schittenhelm, Michael Bitzer, Nisar Malek, Daniel Zips, Ghazaleh Tabatabai
Summary: This study investigates the feasibility and clinical utility of molecular profiling and targeted therapy in patients with advanced tumors in the nervous system. The results show that 93.1% of patients can receive biomarker-guided therapy recommendations, with treatment initiated in 22.6% of cases and a progression-free survival ratio >1.3 observed in 31.3% of patients. These findings support the clinical efficacy of biomarker-guided therapies in neuro-oncology patients and have implications for future clinical trials and care.
NEURO-ONCOLOGY ADVANCES
(2023)