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https://read.qxmd.com/read/30777867/-met-mutation-causes-muscular-dysplasia-and-arthrogryposis
#1
Hang Zhou, Chengjie Lian, Tingting Wang, Xiaoming Yang, Caixia Xu, Deying Su, Shuhui Zheng, Xiangyu Huang, Zhiheng Liao, Taifeng Zhou, Xianjian Qiu, Yuyu Chen, Bo Gao, Yongyong Li, Xudong Wang, Guoling You, Qihua Fu, Christina Gurnett, Dongsheng Huang, Peiqiang Su
Arthrogryposis is a group of phenotypically and genetically heterogeneous disorders characterized by congenital contractures of two or more parts of the body; the pathogenesis and the causative genes of arthrogryposis remain undetermined. We examined a four-generation arthrogryposis pedigree characterized by camptodactyly, limited forearm supination, and loss of myofibers in the forearms and hands. By using whole-exome sequencing, we confirmed MET p.Y1234C mutation to be responsible for arthrogryposis in this pedigree...
February 18, 2019: EMBO Molecular Medicine
https://read.qxmd.com/read/30770271/genotypic-spectrum-and-natural-history-of-cavitating-leukoencephalopathies-in-childhood
#2
Jie Zhang, Ming Liu, Zhongbin Zhang, Ling Zhou, Weijing Kong, Yuwu Jiang, Jingmin Wang, Jiangxi Xiao, Ye Wu
BACKGROUND: We aimed to delineate the pattern of natural course, neuroimaging features, and the genotypic spectrum of cavitating leukoencephalopathies. METHODS: Children (age of onset ≤16 years) who met the criteria for cavitating leukoencephalopathies from January 2009 to October 2018 were identified. Whole-exome sequencing and prospective follow-up study of the natural history and brain magnetic resonance imaging (MRI) were performed. RESULTS: Thirty-seven children were clinically diagnosed with cavitating leukoencephalopathies...
January 8, 2019: Pediatric Neurology
https://read.qxmd.com/read/30767899/depdc5-mutation-and-familial-focal-epilepsy-with-variable-foci-genotype-and-phenotype-of-a-family
#3
Marina Aberastury, Romina Fernández, Marta Córdoba, Betiana Comas, Martín Peralta, Guillermo Agosta, Marcelo Kauffman, Walter Silva
Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members. We describe three members of a two-generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation. The mean onset age was nine years old. The father experienced episodes with occipital semiology and both siblings exhibited frontal lobe seizures...
February 15, 2019: Epileptic Disorders: International Epilepsy Journal with Videotape
https://read.qxmd.com/read/30764633/effective-immunotherapy-of-glioblastoma-in-an-adolescent-with-constitutional-mismatch-repair-deficiency-syndrome
#4
Z Pavelka, K Zitterbart, H Nosková, V Bajčiová, O Slabý, J Štěrba
BACKGROUND: Individuals with constitutional mismatch repair-deficiency syndrome (CMMR-D) are characterised by early occurrence of colon cancer, haematological malignancies, and brain tumors (malignant gliomas, high-grade gliomas) in childhood, adolescence, and early adulthood. High mutational tumor burden is typical of glioblastoma in CMMR-D patients and could be a reason why this type of glioblastoma responds well to immunotherapies, including those that employ checkpoint inhibitors...
2019: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://read.qxmd.com/read/30763825/distinct-molecular-signature-of-phospholamban-p-arg14del-arrhythmogenic-cardiomyopathy
#5
Wouter P Te Rijdt, Angeliki Asimaki, Jan D H Jongbloed, Edgar T Hoorntje, Elisabetta Lazzarini, Paul A van der Zwaag, Rudolf A de Boer, J Peter van Tintelen, Jeffrey E Saffitz, Maarten P van den Berg, Albert J H Suurmeijer
Phospholamban (PLN) p.Arg14del cardiomyopathy is characterized by a distinct arrhythmogenic biventricular phenotype that can be predominantly left ventricular, right ventricular, or both. Our aim was to further elucidate distinct features of this cardiomyopathy with respect to the distribution of desmosomal proteins observed by immunofluorescence (IF) in comparison to desmosomal arrhythmogenic cardiomyopathy and co-existent genetic variants. We studied eight explanted heart specimens from PLN p.Arg14del mutation carriers...
December 21, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://read.qxmd.com/read/30762593/case-series-of-met-exon-14-skipping-mutation-positive-non-small-cell-lung-cancers-with-response-to-crizotinib-and-cabozantinib
#6
Samantha X Y Wang, Bing M Zhang, Heather A Wakelee, Michael Z Koontz, MingGui Pan, Maximilian Diehn, Christian A Kunder, Joel W Neal
The mesenchymal-to-epithelial transition (MET) gene is altered and becomes a driver mutation in up to 5% of non-small-cell lung cancer (NSCLC). We report our institutional experience treating patients with MET exon 14 skipping (METex14) mutations, including responses to the MET inhibitors crizotinib and cabozantinib. We identified cases of NSCLC with METex14 mutations using an institutionally developed or commercial next-generation sequencing assay. We assessed patient and disease characteristics by retrospective chart review...
February 12, 2019: Anti-cancer Drugs
https://read.qxmd.com/read/30760653/body-mass-index-and-c-peptide-are-important-for-the-promptly-differential-diagnosis-of-maturity-onset-diabetes-from-familial-type-2-diabetes-in-outpatient-clinic
#7
Hui-Xuan Wu, Jun Tang, Long Li, Shi-Ping Liu, Zhi-Guang Zhou, Jian-Xing Yang, De-Wen Yan, Hou-De Zhou
Type 2 diabetic patients are becoming younger and having a tendency to family aggregation, they are easily suspected as maturity-onset diabetes of young (MODY) in the outpatient clinic and send to genetic testing. 9 diabetic families were compared in our outpatient clinic who met the primary diagnosis criteria of MODY. Detailed clinical features and laboratory data including gene sequence were collected and analyzed. The patients met the primary clinical diagnostic criteria of MODY for genetic testing at the first look...
February 13, 2019: Endocrine Journal
https://read.qxmd.com/read/30756294/is-the-small-heat-shock-protein-hspb1-hsp27-a-real-and-predominant-target-of-methylglyoxal-modification
#8
Maria V Sudnitsyna, Nikolai B Gusev
This study analyzed the interaction of commercial monoclonal anti-methylglyoxal antibodies that predominantly recognize argpyrimidine with unmodified and modified model proteins and small heat shock proteins. These antibodies specifically recognize methylglyoxal (MG)-modified bovine serum albumin and lysozyme, but they react equally well with both unmodified and MG-modified HspB1. Mutation R188W decreased the interaction of these antibodies with unmodified HspB1, thus indicating that this residue participates in the formation of antigenic determinant...
February 12, 2019: Cell Stress & Chaperones
https://read.qxmd.com/read/30755224/prima-1-met-induced-neuroblastoma-cell-death-is-modulated-by-p53-and-mycn-through-glutathione-level
#9
Vid Mlakar, Simona Jurkovic Mlakar, Laurence Lesne, Denis Marino, Komal S Rathi, John M Maris, Marc Ansari, Fabienne Gumy-Pause
BACKGROUND: Neuroblastoma is the most common extracranial solid tumor in children. This cancer has a low frequency of TP53 mutations and its downstream pathway is usually intact. This study assessed the efficacy of the p53 activator, PRIMA-1MET , in inducing neuroblastoma cell death. METHODS: CellTiter 2.0 was used to study susceptibility and specificity of NB cell lines to PRIMA-1MET . Real-time PCR and western blot were used to assess the most common p53 transactivation targets...
February 12, 2019: Journal of Experimental & Clinical Cancer Research: CR
https://read.qxmd.com/read/30744664/analysis-of-the-frequency-of-oncogenic-driver-mutations-and-correlation-with-clinicopathological-characteristics-in-patients-with-lung-adenocarcinoma-from-northeastern-switzerland
#10
Alexandra Grosse, Claudia Grosse, Markus Rechsteiner, Alex Soltermann
BACKGROUND: Molecular testing of lung adenocarcinoma for oncogenic driver mutations has become standard in pathology practice. The aim of the study was to analyze the EGFR, KRAS, ALK, RET, ROS1, BRAF, ERBB2, MET and PIK3CA mutational status in a representative cohort of Swiss patients with lung adenocarcinoma and to correlate the mutational status with clinicopathological patient characteristics. METHODS: All patients who underwent molecular testing of newly diagnosed lung adenocarcinoma during a 4-year period (2014-2018) were included...
February 11, 2019: Diagnostic Pathology
https://read.qxmd.com/read/30744539/case-report-her2-amplification-as-a-resistance-mechanism-to-crizotinib-in-nsclc-with-met-exon-14-skipping
#11
Guanggui Ding, Jian Wang, Peikun Ding, Yuxin Wen, Lin Yang
Patients with non-small cell lung cancer (NSCLC) harboring MET exon 14 skipping can benefit from crizotinib treatment. Currently, the main resistance mechanisms to crizotinib are MET D1228N and Y1230C mutations. We reported a case of a Chinese NSCLC patient with MET exon 14 skipping detected by targeted next-generation sequencing (NGS) achieved clinical and imaging remission after crizotinib treatment. Then, amplification of multiple genes such as erb-b2 receptor tyrosine kinase 2 (HER2) was detected when disease progressed, indicating novel resistance mechanisms to crizotinib...
February 11, 2019: Cancer Biology & Therapy
https://read.qxmd.com/read/30739820/melas-syndrome-with-m-4450-g-a-mutation-in-mitochondrial-trna-met-gene
#12
Mari Kuwajima, Masahide Goto, Koyuru Kurane, Hiroko Shimbo, Narumi Omika, Eriko F Jimbo, Kazuhiro Muramatsu, Makiko Tajika, Masaru Shimura, Kei Murayama, Kenji Kurosawa, Takanori Yamagata, Hitoshi Osaka
Mutations in the mitochondrial tRNAMet gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epilepsy since the age of eight years. At age 11, the patient developed sudden visual disturbances and headaches accompanied by recurrent, stroke-like episodes with lactic acidosis (pH 7.279, lactic acid 11.6 mmol/L). The patient frequently developed a delirious state, exhibited regression of intellectual ability...
February 7, 2019: Brain & Development
https://read.qxmd.com/read/30738431/widely-metastatic-idh1-mutant-glioblastoma-with-oligodendroglial-features-and-atypical-molecular-findings-a-case-report-and-review-of-current-challenges-in-molecular-diagnostics
#13
Carlos G Romo, Doreen N Palsgrove, Ananyaa Sivakumar, Christen R Elledge, Lawrence R Kleinberg, Kaisorn L Chaichana, Christopher D Gocke, Fausto J Rodriguez, Matthias Holdhoff
BACKGROUND: Gliomas with 1p/19q-codeletion as well as mutation of isocitrate dehydrogenase (IDH) 1 are typically characterized as oligodendrogliomas with comparatively good response to treatment with radiation and chemotherapy. CASE PRESENTATION: We present the case of a 28-year-old man with an IDH1 and TP53 mutant high grade glioma with abnormalities in chromosomes 1 and 19 suggestive of anaplastic oligodendroglioma that rapidly progressed to widespread metastatic disease...
February 9, 2019: Diagnostic Pathology
https://read.qxmd.com/read/30738047/biomarkers-associated-with-response-to-regorafenib-in-patients-with-hepatocellular-carcinoma
#14
Michael Teufel, Henrik Seidel, Karl Köchert, Gerold Meinhardt, Richard S Finn, Josep M Llovet, Jordi Bruix
BACKGROUND & AIMS: In a phase 3 trial (RESORCE), regorafenib increased overall survival compared with placebo in patients with hepatocellular carcinoma (HCC) previously treated with sorafenib. In an exploratory study, we analyzed plasma and tumor samples from study participants to identify genetic, microRNA (miRNA), and protein biomarkers associated with response to regorafenib. METHODS: We obtained archived tumor tissues and baseline plasma samples from patients with HCC given regorafenib in the RESORCE trial...
February 6, 2019: Gastroenterology
https://read.qxmd.com/read/30737831/axin1-deletion-induced-hepatocarcinogenesis-requires-intact-%C3%AE-catenin-but-not-notch-cascade-in-mice
#15
Yu Qiao, Jingxiao Wang, Eylul Karagoz, Binyong Liang, Xinhua Song, Runze Shang, Katja Evert, Meng Xu, Li Che, Matthias Evert, Diego F Calvisi, Junyan Tao, Bruce Wang, Satdarshan P Monga, Xin Chen
Inactivating mutations of AXIN1, a negative regulator of the Wnt/β-Catenin cascade, are among the common genetic events in human hepatocellular carcinoma (HCC), affecting around 10% of cases. In the present manuscript, we sought to define the genetic crosstalk between Axin1 mutants and Wnt/β-catenin as well as Notch signaling cascades along hepatocarcinogenesis. We discovered that c-MET activation and AXIN1 mutations occur concomitantly in ~3 to 5% of human HCC samples. Subsequently, we generated a murine HCC model via CRISPR/Cas9 based gene deletion of Axin1 (sgAxin1) in combination with transposon-based expression of c-Met in the mouse liver (c-Met/sgAxin1)...
February 8, 2019: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://read.qxmd.com/read/30737265/heterochromatic-foci-and-transcriptional-repression-by-an-unstructured-met-2-setdb1-co-factor-lin-65
#16
Colin E Delaney, Stephen P Methot, Micol Guidi, Iskra Katic, Susan M Gasser, Jan Padeken
The segregation of the genome into accessible euchromatin and histone H3K9-methylated heterochromatin helps silence repetitive elements and tissue-specific genes. In Caenorhabditis elegans , MET-2, the homologue of mammalian SETDB1, catalyzes H3K9me1 and me2, yet like SETDB1, its regulation is enigmatic. Contrary to the cytosolic enrichment of overexpressed MET-2, we show that endogenous MET-2 is nuclear throughout development, forming perinuclear foci in a cell cycle-dependent manner. Mass spectrometry identified two cofactors that bind MET-2: LIN-65, a highly unstructured protein, and ARLE-14, a conserved GTPase effector...
February 8, 2019: Journal of Cell Biology
https://read.qxmd.com/read/30735919/phase-ii-randomised-study-of-maintenance-treatment-with-bevacizumab-or-bevacizumab-plus-metronomic-chemotherapy-after-first-line-induction-with-folfoxiri-plus-bevacizumab-for-metastatic-colorectal-cancer-patients-the-moma-trial
#17
Chiara Cremolini, Federica Marmorino, Francesca Bergamo, Giuseppe Aprile, Lisa Salvatore, Gianluca Masi, Emanuela Dell'Aquila, Carlotta Antoniotti, Sabina Murgioni, Giacomo Allegrini, Beatrice Borelli, Donatello Gemma, Mariaelena Casagrande, Cristina Granetto, Sara Delfanti, Samantha Di Donato, Marta Schirripa, Elisa Sensi, Giuseppe Tonini, Sara Lonardi, Gabriella Fontanini, Luca Boni, Alfredo Falcone
BACKGROUND: Alternating induction and maintenance phases is a common strategy in metastatic colorectal cancer (mCRC). Metronomic chemotherapy (metroCT) may represent a well-tolerated chemotherapy backbone for maximising bevacizumab effect during maintenance. The MOMA trial was designed to compare metroCT plus bevacizumab versus bevacizumab alone as maintenance following 4 months of induction with FOLFOXIRI plus bevacizumab. PATIENTS AND METHODS: In this phase II study, patients with unresectable mCRC were randomised to receive up to 8 cycles of FOLFOXIRI plus bevacizumab, followed by bevacizumab (arm A) or the same regimen followed by bevacizumab plus metroCT (capecitabine 500 mg/three times per day and cyclophosphamide 50 mg/die, arm B) until disease progression...
February 5, 2019: European Journal of Cancer
https://read.qxmd.com/read/30718357/novel-third-generation-egfr-tyrosine-kinase-inhibitors-and-strategies-to-overcome-therapeutic-resistance-in-lung-cancer
#18
REVIEW
Ayesha Murtuza, Ajaz Bulbul, John Paul Shen, Parissa Keshavarzian, Brian D Woodward, Fernando J Lopez-Diaz, Scott M Lippman, Hatim Husain
EGFR-activating mutations are observed in approximately 15% to 20% of patients with non-small cell lung cancer. Tyrosine kinase inhibitors have provided an illustrative example of the successes in targeting oncogene addiction in cancer and the role of tumor-specific adaptations conferring therapeutic resistance. The compound osimertinib is a third-generation tyrosine kinase inhibitor, which was granted full FDA approval in March 2017 based on targeting EGFR T790M resistance. The compound has received additional FDA approval as first-line therapy with improvement in progression-free survival by suppressing the activating mutation and preventing the rise of the dominant resistance clone...
February 4, 2019: Cancer Research
https://read.qxmd.com/read/30718102/phase-1-study-of-cabozantinib-in-japanese-patients-with-expansion-cohorts-in-non-small-cell-lung-cancer
#19
Hiroshi Nokihara, Makoto Nishio, Noboru Yamamoto, Yutaka Fujiwara, Hidehito Horinouchi, Shintaro Kanda, Atsushi Horiike, Fumiyoshi Ohyanagi, Noriko Yanagitani, Linh Nguyen, Yifah Yaron, Anne Borgman, Tomohide Tamura
BACKGROUND: Cabozantinib inhibits tyrosine kinases including MET, AXL, VEGFR2, RET, KIT, and ROS1 and has demonstrated antitumor activity in multiple tumor types. The primary objective of this phase 1 study (NCT01553656) was to determine the maximum tolerated dose (MTD) and recommended phase 2 dose (RP2D) of cabozantinib in Japanese patients. PATIENTS AND METHODS: Patients with advanced solid tumors were enrolled at 2 sites in Japan. After determining the MTD and RP2D, an expansion in non-small-cell lung cancer (NSCLC) consisting of 3 molecularly defined cohorts (EGFR mutation; KRAS mutation; ALK, RET, or ROS1 fusion) was initiated...
December 31, 2018: Clinical Lung Cancer
https://read.qxmd.com/read/30717682/alterations-in-erbb2-and-brca-and-microsatellite-instability-as-new-personalized-treatment-options-in-small-bowel-carcinoma
#20
Alexander Quaas, Carina Heydt, Dirk Waldschmidt, Hakan Alakus, Thomas Zander, Tobias Goeser, Philipp Kasper, Christiane Bruns, Anna Brunn, Wilfried Roth, Nils Hartmann, Anne Bunck, Matthias Schmidt, Reinhard Buettner, Sabine Merkelbach-Bruse
BACKGROUND: Carcinomas of the small bowel are rare tumors usually with dismal prognosis. Most recently, some potentially treatable molecular alterations were described. We emphasize the growing evidence of individualized treatment options in small bowel carcinoma. METHODS: We performed a DNA- based multi-gene panel using ultra-deep sequencing analysis (including 14 genes with up to 452 amplicons in total; KRAS, NRAS, HRAS, BRAF, DDR2, ERBB2, KEAP1, NFE2L2, PIK3CA, PTEN, RHOA, BRCA1, BRCA2 and TP53) as well as an RNA-based gene fusion panel including ALK, BRAF, FGFR1, FGFR2, FGFR3, MET, NRG1, NTRK1, NTRK2, NTRK3, RET and ROS1 on eleven formalin fixed and paraffin embedded small bowel carcinomas...
February 4, 2019: BMC Gastroenterology
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