Fine-Needle Aspiration Cytology of Parathyroid Carcinoma Mimic Hürthle Cell Thyroid Neoplasm by Chutintorn Sriphrapradang, Pattana Sornmayura, Niramol Chanplakorn, Objoon Trachoo, Pattarana Sae-Chew, Rangsima Aroonroch

“…Genetic analysis found somatic mutation of CDC73 gene in exon1 (c.70delG) which caused premature stop codon in amino acid 26 (p.Glu24Lysfs2*). …”
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Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome by Carlos Augusto Real Martinez, Lilian Vital Pinheiro, Debora Helena Rossi, Michel Gardere Camargo, Maria de Lourdes Setsuko Ayrizono, Raquel Franco Leal, Cláudio Saddy Rodrigues Coy

“…Bloom syndrome (BS) is an inherited disorder due to mutation in BLM gene. The diagnosis of BS should be considered in patients with growth retardation of prenatal onset, a photosensitive rash in a butterfly distribution over the cheeks, and an increased risk of cancer at an early age. …”
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Runaway Train: A Leaky Radiosensitive SCID with Skin Lesions and Multiple Lymphomas by Børre Fevang, Unn Merete Fagerli, Hanne Sorte, Harald Aarset, Håkon Hov, Marit Langmyr, Thomas Morten Keil, Ellen Bjørge, Pål Aukrust, Asbjørg Stray-Pedersen, Tobias Gedde-Dahl

“…Here, we present the case of a young man who had increasingly aggressive lymphoproliferative skin lesions from 2 years of age which developed into multiple EBV+ B-cell lymphomas, where a hypomorphic mutation in the Artemis gene was found in a diagnostic race against time using whole exome sequencing. …”
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Genetic assessment of apolipoprotein E polymorphism and PRNP genotypes in rapidly progressive dementias in Pakistan by Urwah Rasheed, Minahil Khalid, Aneeqa Noor, Umar Saeed, Rizwan Uppal, Saima Zafar

“…E200K mutation was completely absent from the given population. …”
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Nevoid basal cell carcinoma syndrome (Gorlin syndrome): a case report by Noura Abdul Rahman, Fatima Breim, Joud Zakour, Zainab Srouji, Silva Ishkhanian

“…Abstract Background Basal cell nevus syndrome, also known as Gorlin or Gorlin–Goltz syndrome, is a hereditary condition caused by mutation in the PATCHED gene. The syndrome presents with a wide range of clinical manifestations, including basal cell carcinomas, jaw cysts, and skeletal anomalies. …”
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Acoustic Emission and Failure Modes for Coal-Rock Structure under Different Loading Rates by Ning Wang, Yingqian Xu, Dengyuan Zhu, Nan Wang, Benfu Yu

“…According to the damage characteristics and AE parameters for combined samples, an brittle model for coal-rock structure with mutation characteristics was proposed, and three basic failure modes for the combined structure with the increase of loading rate were progressive shear failure, splitting failure, and structural failure, respectively.…”
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From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia by Mónica Fernandes Pineda, Andrés F. Zea-Vera

“…Inborn errors of immunity include a broad spectrum of genetic diseases, in which a specific gene mutation might alter the entire emphasis and approach for an individual patient. …”
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Nuclear DNA content variation within four species of Asian catfish of family Pangasidae and their two interspecific hybrids by flow cytometry by Imron, Evi Tahapari, Jadmiko Darmawan, Muhammad Luthfi Abdurachman

“…  Nuclear DNA content (NDC) of species or population is believed to have been formed naturally by many mechanisms such chromosomal mutation, insertion and deletion, transposable element, and duplication. …”
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Evolutionary Insights into IL17A in Lagomorphs by Fabiana Neves, Joana Abrantes, Tereza Almeida, Paulo P. Costa, Pedro J. Esteves

“…However, at codon 88, one of the interaction sites between IL17A and its receptor IL17RA, there is an Arg>Pro mutation that only occurs in European rabbit and European brown hare. …”
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Composite Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma and T-Prolymphocytic Leukemia Presenting with Lymphocytosis, Skin Lesions, and Generalized Lymphadenopathy by Ali Sakhdari, Guilin Tang, Lawrence E. Ginsberg, Cheryl F. Hirsch-Ginsberg, Carlos E. Bueso-Ramos, L. Jeffrey Medeiros, Roberto N. Miranda

“…The concomitant detection of ATM mutation in CLL and T-PLL components raises the possibility of a common pathogenic mechanism.…”
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Characterizing the Crosstalk of NCAPG with Tumor Microenvironment and Tumor Stemness in Stomach Adenocarcinoma by Zheng Xiang, Genlan Cha, Yihao Wang, Jikai Gao, Jianguang Jia

“…High and low NCAPG expression groups had differential overall survival, tumor mutation burden, and differential enrichment of therapeutic-related pathways. …”
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Pulmonary enteric adenocarcinoma with progression disease after second - line therapy: a case report by Ya Guo, Bin Zhang, Heng Zhang, Yunbin Gao, Haibo Zhao, Pei Jiang, Qing-Qing Yu

“…In this case, we describe a 61-year-old man diagnosed with advanced primary PEAC with KRAS mutation. In the case of unknown PD-L1 expression status, first-line treatment was given to lung adenocarcinoma regimen (immunotherapy combined with chemotherapy), progression occurred after 2 cycles, and progression-free survival (PFS) was 1.5 months. …”
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Expression Profiling of Proliferation and Apoptotic Markers along the Adenoma-Carcinoma Sequence in Familial Adenomatous Polyposis Patients by Jayson Wang, Nabil El-Masry, Ian Talbot, Ian Tomlinson, Malcolm R. Alison, Mona El-Bahrawy

“…Familial adenomatous polyposis (FAP) patients have a germline mutation in the adenomatous polyposis coli (APC) gene. …”
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Safety Evaluation of Multiple Strains of Lactobacillus plantarum and Pediococcus pentosaceus in Wistar Rats Based on the Ames Test and a 28-Day Feeding Study by Cheng-Chih Tsai, Sew-Fen Leu, Quan-Rong Huang, Lan-Chun Chou, Chun-Chih Huang

“…Multiple strains (HK006, HK109, and PP31) were subject to a bacterial reverse mutation assay and a short-term oral toxicity study. …”
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A 19-year-old Patient with Recurrent Pruritus and Jaundice by K. S. Nezhdanov, E. N. Shirokova, Yu. O. Shulpekova, A. S. Ostrovskaya, M. S. Zharkova, V. T. Ivashkin

“…Workup was negative for viral hepatitis, autoimmune liver diseases, obstructive choledochal lesions, storage diseases, although mutation in gene ABCB11 was found. Benign recurrent intrahepatic cholestasis type 2 was diagnosed. …”
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Expert Consensus on Molecular Tumor Boards in Taiwan: Joint Position Paper by the Taiwan Oncology Society and the Taiwan Society of Pathology by Ming-Huang Chen, Wan-Shan Li, Bin-Chi Liao, Chiao-En Wu, Chien-Feng Li, Chia-Hsun Hsieh, Feng-Che Kuan, Huey-En Tzeng, Jen-Fan Hang, Nai-Jung Chiang, Tse-Ching Chen, Tom Wei-Wu Chen, John Wen-Cheng Chang, Yao-Yu Hsieh, Yen-Lin Chen, Yi-Chen Yeh, Yi-Hsin Liang, Yu-Li Su, Chiung-Ru Lai, James Chih-Hsin Yang

“…Results: The joint statement proposes key recommendations: (1) MTB discussions encompass diverse molecular analyses including next-generation sequencing (NGS), RNA sequencing, whole-exon sequencing, and whole-genomic sequencing addressing relevant genomic changes, tumor mutation burden, microsatellite instability, and specific biomarkers for certain cancers. (2) MTB meetings should involve multidisciplinary participants who receive regular updates on NGS-related clinical trials. (3) Prioritize discussing cases with unique clinical needs, gene alterations lacking treatments, untreatable neoplasms, or oncogenes unresponsive to targeted therapies. (4) Base MTB discussions on comprehensive patient data, including genetics, pathology, timing of specimen collection, and NGS outcomes. (5) MTBs offer treatment recommendations: standard therapies, off-label use, clinical trials, genetic counseling, and multidisciplinary reviews. (6) MTB effectiveness can be gauged by member composition, case reviews, treatment suggestions, and patient outcomes. …”
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Case report: Therapeutic use of bortezomib in a patient with Schnitzler syndrome by Hua Bai, Dongming Zhou, Jinwen Liu, Jie He, Zhou Min, Wenyong Fan, Bing Chen, Yong Xu

“…Whole exome sequencing (WES) did not reveal any pathological variants associated with monogenic autoinflammatory diseases or the MYD88 L265P mutation. He met the diagnostic criteria for SchS and was treated with bortezomib, leading to a significant improvement in clinical symptoms and a decline in IgMκ monoclonal protein levels. …”
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A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heteroz... by Imalke Kankananarachchi, Eresha Jasinge, Gemunu Hewawitharana

“…It is known that VPA-associated HA is common among patients who hold genetic mutations of the carbomoyl phosphatase synthase 1 gene (CPS1). …”
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Comparison of BTX Profiles and Their Mutagenicity Assessment at Two Sites of Agra, India by Vyoma Singla, Tripti Pachauri, Aparna Satsangi, K. Maharaj Kumari, Anita Lakhani

“…Extracts of samples were positive in both Salmonella typhimurium tester strains TA98 and TA100 without metabolic activation suggesting the presence of direct mutagens in ambient air that can cause both frame-shift and base-pair mutation. The mutagenic response was greater for TA100 than TA98 suggesting greater activity for base-pair mutagenicity than frame-shift mutagenicity and was found to be statistically significant.…”
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Blockade of Vascular Endothelial Growth Factor Receptor 1 Prevents Inflammation and Vascular Leakage in Diabetic Retinopathy by Jianbo He, Hong Wang, Ying Liu, Wen Li, Dorothy Kim, Hu Huang

“…Experimental models of diabetes were induced with streptozotocin (STZ) treatment or Insulin2 gene mutation (Akita) in mice. Protein expression and localization were examined by western blots (WB) and immunofluorescence (IF). mRNA expression was quantified by PCR array and real-time PCR. …”
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