Article
Clinical Neurology
Manuel Schweighauser, Holly J. Garringer, Therese Klingstedt, K. Peter R. Nilsson, Masami Masuda-Suzukake, Jill R. Murrell, Shannon L. Risacher, Ruben Vidal, Sjors H. W. Scheres, Michel Goedert, Bernardino Ghetti, Kathy L. Newell
Summary: Two siblings with a deletion mutation at K281 of MAPT gene developed frontotemporal dementia. Autopsy revealed numerous hyperphosphorylated 3R Tau inclusions in neurons and glial cells of the neocortex and some subcortical regions, including the hippocampus, caudate/putamen, and globus pallidus. These inclusions were argyrophilic with Bodian silver staining but not Gallyas-Braak silver staining. They were not labeled by an antibody specific for tau phosphorylation at S262 and/or S356. Luminescent conjugated oligothiophene HS-84 stained the inclusions, but bTVBT4 did not. Electron cryo-microscopy showed that the core of tau filaments consisted of residues K254-F378 of 3R Tau and was indistinguishable from Pick's disease. We conclude that the MAPT mutation at K281 leads to Pick's disease.
ACTA NEUROPATHOLOGICA
(2023)
Article
Geriatrics & Gerontology
Diana A. Olszewska, Conor Fearon, Christopher McGuigan, Terri P. McVeigh, Henry Houlden, James M. Polke, Brian Lawlor, Robert Coen, Michael Hutchinson, Michael Hutton, Alan Beausang, Isabelle Delon, Francesca Brett, Ioanna Sevastou, Nuria Seto-Salvia, Rohan de Silva, Tim Lynch
Summary: This study presents the first clinical-radiological-genetic-molecular-pathological study of a kindred with c.82310G>T MAPT intronic variant associated with FTDP-17. The report highlights the association between MAPT gene variants and motor neuron disease, supporting the pathogenicity of the variant. The study also confirms the 4R tauopathy and discusses the potential mechanism of action of the intronic point mutation.
NEUROBIOLOGY OF AGING
(2021)
Article
Clinical Neurology
Laura Williams, Diana A. Olszewska, Conor Fearon, Brian Magennis, Allan McCarthy, Lewis P. Rowland, Richard Mayeux, Rory Page, Stanley Fahn, Alan Beausang, Tim Lynch
Summary: Ondine's curse is a rare condition causing failure of automatic respiratory drive, sometimes associated with FTDP-17t. Despite variants affecting different regions of MAPT, patients experienced central hypoventilation during their disease course.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2021)
Article
Oncology
Julia Boeck, Katja Maurus, Elena Gerhard-Hartmann, Stephanie Braendlein, Katrin S. Kurz, German Ott, Ioannis Anagnostopoulos, Andreas Rosenwald, Alberto Zamo
Summary: Diagnosing T-cell lymphomas is challenging and current diagnostic procedures may still leave room for doubt. Recent genetic analysis has identified diagnostically relevant mutations with potential prognostic value. We developed a lean approach using a small amplicon-based panel that can be used in routine diagnostic labs, providing high success rates (97%) and detecting mutations in the majority (79%) of tested T-cell lymphoma samples.
FRONTIERS IN ONCOLOGY
(2023)
Article
Immunology
Qi Sun, Yumei Li, Xin Yang, Xinxin Wu, Zhen Liu, Yakui Mou, Xicheng Song
Summary: The study independently evaluated and confirmed the prognostic value of a 17-lncRNA signature related to Tregs in the tumor microenvironment. The 17-lncRNA signature accurately described Treg populations and predicted prognosis with high accuracy in different cohorts, suggesting its potential as a novel prognostic tool for guiding treatment decisions in patients with HNSCC at high risk.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Biotechnology & Applied Microbiology
Sachendra Kumar, Annapoorni Rangarajan, Debnath Pal
Summary: This study examines the role of cancer stem cells (CSCs) in gingivobuccal oral squamous cell carcinoma (OSCC-GB), a disease prevalent among smokeless tobacco chewers in India. Transcriptomics analysis reveals DNA damage associated with the disease, potentially caused by the carcinogens in smokeless tobacco. Furthermore, somatic variants in DNA damage response-related genes, particularly CREBBP, may contribute to metastasis, recurrence, and treatment resistance in Indian OSCC-GB patients.
Article
Oncology
Yunfei Shi, Haojie Wang, Yanfei Liu, Mengping Long, Ning Ding, Lan Mi, Yumei Lai, Lixin Zhou, Xinting Diao, Xianghong Li, Weiping Liu, Jun Zhu
Summary: The study aims to explore the application of genetic abnormalities in the diagnosis and prognosis of AITL. By analyzing 53 AITL cases, the study found that mutation data can assist in diagnosis and that EBER high-density is associated with adverse survival.
CHINESE JOURNAL OF CANCER RESEARCH
(2023)
Article
Oncology
Shugo Sakihama, Kazuho Morichika, Rumiko Saito, Megumi Miyara, Takashi Miyagi, Masaki Hayashi, Junnosuke Uchihara, Takeaki Tomoyose, Kazuiku Ohshiro, Shingo Nakayama, Sawako Nakachi, Satoko Morishima, Kazuko Sakai, Kazuto Nishio, Hiroaki Masuzaki, Takuya Fukushima, Kennosuke Karube
Summary: The study found that ATLL patients in Okinawa exhibited similar mutation profiles to mainland Japanese patients, with frequent alterations in TCR/NF-kappa B and T-cell trafficking pathways. Some mutations, especially GATA3 and RHOA, were detected more frequently in Okinawan patients than in mainland Japanese patients. The study also suggests that the genetic abnormalities in ATLL depend on the viral strain as well as on the ethnic background, indicating the need to develop therapeutic interventions considering regional characteristics.
Article
Cell Biology
Jusen Nong, Kejian Yang, Tianman Li, Chenlu Lan, Xin Zhou, Junqi Liu, Haixiang Xie, Jianzhu Luo, Xiwen Liao, Guangzhi Zhu, Tao Peng
Summary: This study investigates the role of SART3 in hepatocellular carcinoma (HCC). The findings demonstrate the diagnostic and prognostic value of SART3 in HCC. SART3 may be associated with immune infiltration of Th2 cells and macrophages in HCC, highlighting its potential role in the development and progression of HCC.
Article
Immunology
Lipin Liu, Bijun Sun, Wenjing Ying, Danru Liu, Ying Wang, Jinqiao Sun, Wenjie Wang, Mi Yang, Xiaoying Hui, Qinhua Zhou, Jia Hou, Xiaochuan Wang
Summary: This study summarized the clinical and immunological characteristics of opportunistic pathogen Talaromyces marneffei in a group of patients with inborn errors of immunity (IEI). Gene mutations in IL12RB1, IFNGR1, STAT1, STAT3, and CD40LG were found to be associated with T. marneffei infection. The application of metagenomic next-generation sequencing (mNGS) showed high sensitivity and specificity in diagnosing T. marneffei infection.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Oncology
Sei-Gyung K. Sze, Howard M. Lederman, Thomas O. Crawford, Michael F. Wangler, Andrea M. Lewis, Michael B. Kastan, Harpreet K. Dibra, Alexander M. R. Taylor, Daniel S. Wechsler
Summary: Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by progressive cerebellar degeneration. The condition is associated with an increased risk of malignancies, particularly lymphoid tumors. This case study highlights the importance of recognizing ATM mutations in T-cell acute lymphoblastic leukemia and the phenotypic heterogeneity of A-T, as well as the need to define optimal cancer screening in A-T patients.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
(2021)
