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https://www.readbyqxmd.com/read/28625977/p300-mediated-acetylation-of-the-notch-effector-transcription-factor-maml-1-recruits-nack-to-initiate-notch-dependent-transcription
#1
Ke Jin, Wen Zhou, Xiaoqing Han, Zhiqiang Wang, Bin Li, Shawn Jeffries, Wensi Tao, David J Robbins, Anthony J Capobianco
Although it has long been appreciated that p300 acts as a critical Notch coactivator, the mechanistic details of p300 in Notch-mediated transcription remain unclear. We previously demonstrated that PEAK1-related kinase activating pseudokinase 1 (NACK) is a critical co-activator of Notch signaling and binds to the Notch1 ternary complex. Herein we report that p300 and CBP acetylate mastermind-like transcriptional coactivator 1 (Maml1) on amino acid residues K188 and K189 to recruit NACK to the Notch1 ternary complex, which results in the recruitment of RNA polymerase II to initiate transcription...
June 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28597942/copy-number-alterations-determined-by-single-nucleotide-polymorphism-array-testing-in-the-clinical-laboratory-are-indicative-of-gene-fusions-in-pediatric-cancer-patients
#2
Tracy M Busse, Jacquelyn J Roth, Donna Wilmoth, Luanne Wainwright, Laura Tooke, Jaclyn A Biegel
Gene fusions resulting from structural rearrangements are an established mechanism of tumorigenesis in pediatric cancer. In this clinical cohort, 1,350 single nucleotide polymorphism (SNP)-based chromosomal microarrays from 1,211 pediatric cancer patients were evaluated for copy number alterations (CNAs) associated with gene fusions. Karyotype or fluorescence in situ hybridization studies were performed in 42% of the patients. Ten percent of the bone marrow or solid tumor specimens had SNP array-associated CNAs suggestive of a gene fusion...
June 9, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28535805/first-case-of-b-all-with-kmt2a-maml2-rearrangement-a-case-report
#3
Estelle Menu, Nathalie Beaufils, Fabrice Usseglio, Estelle Balducci, Marina Lafage Pochitaloff, Regis Costello, Jean Gabert
BACKGROUND: A large number of chromosomal translocations of the human KMT2A gene, better known as the MLL gene, have so far been characterized. Genetic rearrangements involving KMT2A gene are frequently involved in lymphoid, myeloid and mixed lineage leukemia. One of its rare fusion partners, the mastermind like 2 (MAML2) gene has been reported in four cases of myeloid neoplasms after chemotherapy so far: two acute myeloid leukemias (AML) and two myelodysplasic syndrome (MDS), and two cases of secondary T-cell acute lymphoblastic leukemia (T-ALL)...
May 23, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28503786/use-of-fluorescent-in-situ-hybridisation-in-salivary-gland-cytology-a-powerful-diagnostic-tool
#4
S M Evrard, J Meilleroux, G Daniel, C Basset, L Lacoste-Collin, S Vergez, E Uro-Coste, M Courtade-Saidi
OBJECTIVE: Salivary gland cytology is challenging because it includes a diversity of lesions and a wide spectra of tumours. Recently, it has been reported that many types of salivary gland tumours have specific molecular diagnostic signatures that could be identified by fluorescent in-situ hybridisation (FISH). The aim of the present study was to demonstrate the feasibility and efficiency of FISH on routine cytological salivary gland smears. METHODS: FISH was conducted on 37 cytological salivary gland smears from 34 patients...
May 15, 2017: Cytopathology: Official Journal of the British Society for Clinical Cytology
https://www.readbyqxmd.com/read/28492094/bronchial-mucoepidermoid-carcinoma-with-the-classic-maml2-gene-rearrangement-in-a-2-year-old-boy
#5
Linda J Szymanski, Kira Molas-Torreblanca, Ramzi Bawab, Eugene Kim, Debra Don, Leo Mascarenhas, Phillip Stanley, Shengmei Zhou, Nick Shillingford
Pulmonary mucoepidermoid carcinoma (PMEC) is rare. To date, primary PMEC has not been reported in a child younger than 3 years of age. We report a case of a 2-year-old boy who presented with 3 episodes of wheezing, cough, and fever over a period of 1 month. Radiologic findings were consistent with foreign body aspiration with consequent bronchial obstruction. Bronchoscopy was performed and attempts to retrieve the foreign body resulted in a biopsy of a fleshy lesion. By histology, the lesion was an epithelial neoplasm comprising cells arranged in a nested pattern...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28465505/hypertension-reduces-soluble-guanylyl-cyclase-expression-in-the-mouse-aorta-via-the-notch-signaling-pathway
#6
Catarina Rippe, Baoyi Zhu, Katarzyna K Krawczyk, Ed Van Bavel, Sebastian Albinsson, Jonas Sjölund, Erik N T P Bakker, Karl Swärd
Hypertension is a dominating risk factor for cardiovascular disease. To characterize the genomic response to hypertension, we administered vehicle or angiotensin II to mice and performed gene expression analyses. AngII treatment resulted in a robust increase in blood pressure and altered expression of 235 genes in the aorta, including Gucy1a3 and Gucy1b3 which encode subunits of soluble guanylyl cyclase (sGC). Western blotting and immunohistochemistry confirmed repression of sGC associated with curtailed relaxation via sGC activation...
May 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28438292/correlation-of-crtc1-3-maml2-fusion-status-grade-and-survival-in-mucoepidermoid-carcinoma
#7
Andrew C Birkeland, Susan K Foltin, Nicole L Michmerhuizen, Rebecca C Hoesli, Andrew J Rosko, Serena Byrd, Megan Yanik, Jacques E Nor, Carol R Bradford, Mark E Prince, Thomas E Carey, Jonathan B McHugh, Matthew E Spector, J Chad Brenner
OBJECTIVE: Mucoepidermoid carcinoma (MEC) is the most common malignant tumor of the salivary glands. Tumor stage and grade have historically been important predictors of survival. An oncogenic CRTC1- or CRTC3-MAML2 gene fusion has been identified in a number of MECs. Historically, these gene fusions have been associated with lower grade tumors and better survival. However, reported gene fusion rates and prognosis varies widely across studies, and have not controlled for tumor grade. We sought to identify gene fusion rates and outcomes in our cohort of MEC patients...
May 2017: Oral Oncology
https://www.readbyqxmd.com/read/28412212/mucoepidermoid-carcinoma-with-extensive-spindled-morphology-and-melanocytic-marker-expression
#8
Takashi Oide, Kenzo Hiroshima, Yoko Takahashi, Kazunori Fugo, Masanobu Yamatoji, Atsushi Kasamatsu, Yosuke Endo-Sakamoto, Masashi Shiiba, Katsuhiro Uzawa, Hideki Tanzawa, Toshitaka Nagao, Yukio Nakatani
Mucoepidermoid carcinoma (MEC) is the most common malignant neoplasm of the salivary gland. Albeit common, histological variants have rarely been noted in MEC. Here, we report a 49-year-old man with a sublingual gland tumor. Histologically, the tumor was composed of spindle cells arranged in interlacing fascicules or globular nests. A few bland small glands containing mucous cells were also scattered. The spindle tumor cells completely lacked immunoreactivity for cytokeratin, and exhibited immunoreactivity for vimentin, S-100, HMB-45, Melan A, and SOX10...
April 12, 2017: Human Pathology
https://www.readbyqxmd.com/read/28366784/enhanced-osteogenic-differentiation-of-rat-bone-marrow-mesenchymal-stem-cells-on-titanium-substrates-by-inhibiting-notch3
#9
Huiming Wang, Zhiwei Jiang, Jing Zhang, Zhijian Xie, Ying Wang, Guoli Yang
OBJECTIVE: The role of the Notch pathway has already been identified as a crucial regulator of bone development. However, the Notch signaling pathway has gone largely unexplored during osseointegration. This study aims to investigate the role of Notch signaling on osteogenic differentiation of rat derived bone marrow mesenchymal stem cells (BMSCs) on sandblasted, large-grit, acid-etched (SLA) treated Ti disks. METHODS: The involved target genes in Notch pathways were identified by in vitro microarray and bioinformatics analyses with or without osteogenic induction...
August 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28343305/clinicopathologic-and-genetic-features-of-primary-bronchopulmonary-mucoepidermoid-carcinoma-the-md-anderson-cancer-center-experience-and-comprehensive-review-of-the-literature
#10
Alireza Salem, Diana Bell, Boris Sepesi, Vassiliki Papadimitrakopoulou, Adel El-Naggar, Cesar A Moran, Neda Kalhor
Primary bronchopulmonary mucoepidermoid carcinoma (BPMEC) is a rare tumor. The fusion protein MECT1-MAML2 has been implicated as a causative genetic event in salivary and BPMECs. Several studies have shown the impact of MECT1-MAML2 on the diagnosis and prognosis of salivary gland mucoepidermoid carcinoma; however, few studies have been published regarding MECT1-MAML2 in the context of primary BPMEC. We describe the clinicopathologic, genetic, and outcome data of 16 patients with BPMEC. Clinicopathologic features were recorded from the electronic medical records...
June 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28139061/immunohistochemical-and-molecular-profile-of-salivary-gland-cancer-in-children
#11
Laura D Locati, Paola Collini, Martina Imbimbo, Marta Barisella, Adele Testi, Lisa F Licitra, Thomas Löning, Katharina Tiemann, Pasquale Quattrone, Emanuela Bimbatti, Stefano Chiaravalli, Michela Casanova, Elena Tamborini, Roberto Carta, Patrizia Gasparini, Marco Guzzo, Maura Massimino, Andrea Ferrari
BACKGROUND: Pediatric salivary gland carcinomas (SGCs) are very rare. They differ from the adult SGCs in terms of epidemiologic and clinical behavior, being generally limited only to selected histotypes (e.g. low-grade mucoepidermoid [LG-MEC] and acinic cell cancer [AcCC]) and characterized by very good outcome. Our aim was to investigate therapeutic targets on a series of pediatric SGCs by immunohistochemical and molecular analysis. METHODS: A retrospective analysis was performed to search for cases of pediatric SGCs in the database of the Pediatric Oncology Unit at the Istituto Nazionale Tumori and in the Pathology database at the Gerhard-Seifert-Reference-Centre...
January 31, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28006088/case-of-parotid-mucoepidermoid-carcinoma-expanding-the-spectrum-of-von-hippel-lindau-related-neoplasms
#12
Michael H Berger, Darcy A Kerr, Artur E Rangel Filho, Zoukaa B Sargi
BACKGROUND: von Hippel-Lindau (VHL)-related tumors occurring outside the spectrum of VHL-defining tumors are rare, and mucoepidermoid carcinoma (MEC) in the setting of VHL disease has not been described. METHODS AND RESULTS: We describe a patient with confirmed VHL mutation who presented with a parotid mass and a history of 2 central nervous system (CNS) hemangioblastomas and 1 pheochromocytoma. Fine-needle aspiration (FNA) of the mass suggested a benign Warthin tumor...
December 22, 2016: Head & Neck
https://www.readbyqxmd.com/read/27994904/bronchial-foreign-body-alerting-of-a-bronchial-tumor-the-need-of-a-follow-up-radiography
#13
Nahida El-Rifai, Samar Shahine, Hassan Sidani, Ali Sabeh Aion, Antoine Deschildre, Marie-Christine Copin
Lung tumors are extremely rare in the pediatric population, comprising only 0.2% of all malignancies in children. Among them, mucoepidermoid carcinoma (MEC) is even rarer with a reported frequency of 0.1% to 0.2%. MEC is defined by the World Health Organization as a tumor characterized by a combination of mucus-secreting, squamous, and intermediate cell types. We describe the case of a 4-year-old girl who presented with a history of intermittent fever and nonproductive cough of 1-month duration after foreign body aspiration...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27910944/thyroid-sclerosing-mucoepidermoid-carcinoma-with-eosinophilia-a-clinicopathologic-and-molecular-analysis-of-a-distinct-entity
#14
Akeesha A Shah, Kristin La Fortune, Caitlyn Miller, Stacey E Mills, Zubair Baloch, Virginia LiVolsi, Sanja Dacic, Alyssa L Mahaffey, Marina Nikiforova, Yuri E Nikiforov, Raja R Seethala
Sclerosing mucoepidermoid carcinoma with eosinophilia is a rare thyroid neoplasm of uncertain pathogenesis that resembles salivary gland mucoepidermoid carcinoma. This multi-institutional study characterizes the clinicopathologic and molecular features of this tumor by utilizing next-generation sequencing to assess common mutations and gene fusions involved in thyroid carcinogenesis as well as fluorescence in-situ hybridization for MAML2 translocations typical of salivary gland mucoepidermoid carcinoma. Nine cases (6 females and 3 males, mean age: 59 years, range 30-77 years) were identified...
March 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27769871/reevaluation-of-maml2-fusion-negative-mucoepidermoid-carcinoma-a-subgroup-being-actually-hyalinizing-clear-cell-carcinoma-of-the-salivary-gland-with-ewsr1-translocation
#15
Min-Shu Hsieh, Hsuang Wang, Yi-Hsuan Lee, Jenq-Yuh Ko, Yih-Leong Chang
Hyalinizing clear cell carcinoma (HCCC) is a rare salivary gland tumor with a specific EWSR1-ATF1 fusion gene and can have mucin production. Mucoepidermoid carcinoma (MEC) with a clear cell component is its morphologic mimic. Using MAML2 fluorescence in situ hybridization (FISH), a total of 49 MEC cases were separated into MAML2 fusion-positive (32 cases) and MAML2 fusion-negative groups (17 cases). This study used EWSR1 FISH to investigate MAML2 fusion-negative cases to identify previously unrecognized HCCC...
March 2017: Human Pathology
https://www.readbyqxmd.com/read/27709636/pttg1ip-and-maml3-novel-genomewide-association-study-genes-for-severity-of-hyperresponsiveness-in-adult-asthma
#16
M A E Nieuwenhuis, J M Vonk, B E Himes, C Sarnowski, C Minelli, D Jarvis, E Bouzigon, D C Nickle, M Laviolette, D Sin, S T Weiss, M van den Berge, G H Koppelman, D S Postma
BACKGROUND: The severity of bronchial hyperresponsiveness (BHR) is a fundamental feature of asthma. The severity of BHR varies between asthmatics and is associated with lack of asthma control. The mechanisms underlying this trait are still unclear. This study aimed to identify genes associated with BHR severity, using a genomewide association study (GWAS) on the slope of BHR in adult asthmatics. METHODS: We performed a GWAS on BHR severity in adult asthmatics from the Dutch Asthma GWAS cohort (n = 650), adjusting for smoking and inhaled corticosteroid use, and verified results in three other cohorts...
October 6, 2016: Allergy
https://www.readbyqxmd.com/read/27501229/genomic-alteration-in-head-and-neck-squamous-cell-carcinoma-hnscc-cell-lines-inferred-from-karyotyping-molecular-cytogenetics-and-array-comparative-genomic-hybridization
#17
Worapong Singchat, Ekarat Hitakomate, Budsaba Rerkarmnuaychoke, Aorarat Suntronpong, Beiyuan Fu, Winai Bodhisuwan, Surin Peyachoknagul, Fengtang Yang, Sittichai Koontongkaew, Kornsorn Srikulnath
Genomic alteration in head and neck squamous cell carcinoma (HNSCC) was studied in two cell line pairs (HN30-HN31 and HN4-HN12) using conventional C-banding, multiplex fluorescence in situ hybridization (M-FISH), and array comparative genomic hybridization (array CGH). HN30 and HN4 were derived from primary lesions in the pharynx and base of tongue, respectively, and HN31 and HN12 were derived from lymph-node metastatic lesions belonging to the same patients. Gain of chromosome 1, 7, and 11 were shared in almost all cell lines...
2016: PloS One
https://www.readbyqxmd.com/read/27441073/a-rare-case-of-exclusively-oncocytic-mucoepidermoid-carcinoma-with-maml2-translocation
#18
Xiaoyan Liao, Parviz Haghighi, Charles S Coffey, Xiangdong Xu
Mucoepidermoid carcinoma is the most common malignant tumor of the salivary gland. The oncocytic variant of mucoepidermoid carcinoma (OMEC) is rare and a small subset shows exclusive oncocytic morphology. Here we report an OMEC case of the parotid gland in a 74-year-old woman with exclusive oncocytes and rare mucocytes. The oncocytes showed diffuse nuclear positivity with p63 immunostaining. The MAML2 translocation was present, supporting the diagnosis of OMEC. Distinguishing OMEC with exclusive oncocytes from oncocytoma and oncocytic carcinoma can be very challenging for pathologists and is critical for proper clinical management...
June 28, 2016: Rare Tumors
https://www.readbyqxmd.com/read/27402217/cutaneous-hidradenoma-a-study-of-21-neoplasms-revealing-neither-correlation-between-the-cellular-composition-and-crtc1-maml2-fusions-nor-presence-of-crtc3-maml2-fusions
#19
Liubov Kyrpychova, Denisa Kacerovska, Tomas Vanecek, Petr Grossmann, Michal Michal, Katrin Kerl, Dmitry V Kazakov
Twenty-one hidradenomas from 20 patients (13 female, 7 male) ranging in age from 18 to 87years (mean, 57.75years; median, 60years) were studied for CRTC1-MAML2 and CRTC3-MAML2 fusions to find out whether there is a correlation between the particular cell type (polyhedral eosinophilic, clear, mucinous, epidermoid, and oncocytic) and presence the above alterations. CRTC1-MAML2 fusions were detected in 10 of the 21 neoplasms (47.6%). Fluorescence in situ hybridization for MAML2 break apart was analyzable in 13 specimens and in all these specimens was positive, including 4 tumors with no demonstrable CRTC1-MAML2 fusion...
August 2016: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/27393417/expression-of-amphiregulin-in-mucoepidermoid-carcinoma-of-the-major-salivary-glands-a-molecular-and-clinicopathological-study
#20
Hitomi Shinomiya, Yohei Ito D, Mie Kubo, Koichiro Yonezawa, Naoki Otsuki, Shigemichi Iwae, Hiroshi Inagaki, Ken-Ichi Nibu
In mucoepidermoid carcinoma (MEC), CRTC1-MAML2 fusion indicates a favorable prognosis. Amphiregulin (AREG), an EGFR ligand, has been shown to be a downstream target of CRTC1-MAML2 fusion, and to play a role in tumor growth and survival in CRTC1-MAML2-positive MEC cell lines. The aim of this study was to characterize the AREG and EGFR expression in the fusion positive and -negative MEC of the major salivary gland. AREG and EGFR expression was studied by immunochemistry in 33 MEC cases of the major salivary glands...
July 5, 2016: Human Pathology
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