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https://www.readbyqxmd.com/read/28930752/salivary-gland-neoplasms-does-morphological-diversity-reflect-tumor-heterogeneity
#1
Miguel Rito, Isabel Fonseca
Salivary gland tumor classification encompasses a vast list of benign and malignant neoplasms. Their morphological diversity is recognized not only between different entities but also within individual tumors. Tumor categories as described by the World Health Organization reflect, in part, a true genetic heterogeneity (e.g., translocations involving CRTC1 and CRTC3-MAML2 genes in mucoepidermoid carcinoma and MYB-NFIB fusion in adenoid cystic carcinoma). Carcinoma ex pleomorphic adenoma shows diversity in its histological appearance, but recurrent rearrangements on PLAG1 and HMGA2 are common to its benign precursor...
September 21, 2017: Pathobiology: Journal of Immunopathology, Molecular and Cellular Biology
https://www.readbyqxmd.com/read/28927048/mucoepidermoid-carcinoma-of-the-sublingual-gland-harboring-a-translocation-of-the-maml2-gene-a-case-report
#2
Kiminobu Sato, Jun Akiba, Ken Nakamura, Hideyuki Abe, Akihiko Kawahara, Takeichiro Aso, Hirohito Umeno, Hiroshi Harada, Hirohisa Yano
Among tumors of the major salivary glands, tumors in the sublingual gland are rare. Although mucoepidermoid carcinoma (MEC) represents a histological type of salivary gland tumor, it is occasionally difficult to diagnose due to its histological variation. The present study reports a case of MEC harboring a mastermind-like transcriptional coactivator 2 (MAML2) gene translocation in the sublingual gland. A 76-year-old Japanese woman with a mass in the left submandibular region was referred to Kurume University Hospital (Kurume, Japan)...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28877061/maml2-rearrangements-in-variant-forms-of-mucoepidermoid-carcinoma-ancillary-diagnostic-testing-for-the-ciliated-and-warthin-like-variants
#3
Justin A Bishop, Morgan L Cowan, Chung H Shum, William H Westra
Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy. Recent studies have shown that most MECs harbor gene fusions involving MAML2-an alteration that appears to be specific for MEC, a finding that could be diagnostically useful. While most cases of MEC are histologically straightforward, uncommon variants can cause considerable diagnostic difficulty. We present 2 variants of MEC for which MAML2 studies were crucial in establishing a diagnosis: a previously undescribed ciliated variant, and the recently described Warthin-like variant...
September 4, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28756976/oncocytic-papillary-cystadenoma-with-prominent-mucinous-differentiation-of-parotid-gland-a-case-report
#4
Borislav A Alexiev, Lawrence J Jennings, Sandeep Samant, Sambasiva Rao
We describe the case of an oncocytic papillary cystadenoma with mucinous differentiation of the parotid gland in a 64-year-old male. Histologically, the tumor exhibited distinctive areas of intracystic papillary growth pattern with microcystic and macrocystic spaces containing mucinous secretions and small crystals. The cyst wall and papillary fronds were lined by oncocytic admixed with numerous mucocytes. Lymphoid tissue and invasive features were not identified. The tumor showed strong expression of CK7 and mammaglobin in oncocytes, and BRST-2 and MUC4 in mucocytes...
October 2017: Pathology, Research and Practice
https://www.readbyqxmd.com/read/28755513/cytological-features-of-the-warthin-like-variant-of-salivary-mucoepidermoid-carcinoma
#5
Jen-Fan Hang, Chung H Shum, Syed Z Ali, Justin A Bishop
Warthin-like mucoepidermoid carcinoma is a recently proposed variant of musoepidermoid carcinoma. Histologically, it is characterized by its close resemblance to Warthin tumor, including dense lymphocytic infiltration, flattened intermediate epithelium resembling squamous metaplasia, and cystic change. Given its histologic similarity to Warthin tumor, confirmatory testing for MAML2 rearrangement is often required for this diagnosis. Here we present the first cytologic reports of two 53-year-old female patients with parotid masses...
July 29, 2017: Diagnostic Cytopathology
https://www.readbyqxmd.com/read/28753783/gene-expression-profiling-of-advanced-penile-squamous-cell-carcinoma-receiving-cisplatin-based-chemotherapy-improves-prognostication-and-identifies-potential-therapeutic-targets
#6
Andrea Necchi, Bernhard J Eigl, Eddy Shih-Hsin Yang, Sejong Bae, Darshan Chandrashekar, Dongquan Chen, Gurudatta Naik, Amitkumar Mehta, Patrizia Giannatempo, Maurizio Colecchia, Jennifer Gordetsky, Shi Wei, Tiffiny Cooper, Sooryanarayana Varambally, Guru Sonpavde
In men with advanced penile squamous cell carcinoma receiving first-line chemotherapy, visceral metastases (VM) and Eastern Cooperative Oncology Group performance status ≥1 are poor prognostic factors for overall survival (OS). We hypothesized that tumor gene expression profiling may enhance prognostic stratification and identify potential therapeutic targets. In this retrospective study, RNA extracted from macrodissected tumors underwent profiling for the expression of 738 genes using NanoString. Univariate and multivariate analyses assessed the association of genes, VM, and performance status with OS...
August 27, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28731049/composite-hemangioendothelioma-with-neuroendocrine-marker-expression-an-aggressive-variant
#7
Kyle D Perry, Alyaa Al-Lbraheemi, Brian P Rubin, Jin Jen, Hongzheng Ren, Jin Sung Jang, Asha Nair, Jaime Davila, Stefan Pambuccian, Andrew Horvai, William Sukov, Henry D Tazelaar, Andrew L Folpe
Aberrant expression of neuroendocrine markers is extremely rare in endothelial neoplasms, with only a single report describing three cases. Although originally classified as conventional angiosarcoma, further assessment of these tumors revealed a strikingly composite morphology composed of retiform and epithelioid elements reminiscent of composite hemangioendothelioma, a rare subtype of hemangioendothelioma. To further investigate these findings, available materials from 11 morphologically distinctive endothelial tumors showing neuroendocrine marker expression were retrieved from our archives...
July 21, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28670072/primary-mucoepidermoid-carcinoma-of-the-lung-with-prominent-clear-cells
#8
David D Fink, Angela M Lomas, Anja C Roden, Prashant C Shah, Riyam T Zreik
Mucoepidermoid carcinoma of the lung is a rare malignancy of salivary gland-type origin. We report a case of a 21-year-old man with a right mainstem bronchus mass composed predominantly of clear cells. This case represents a rare primary pulmonary low-grade mucoepidermoid carcinoma positive for MAML2 rearrangement by fluorescence in situ hybridization with a prominent clear cell component.
July 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28637362/spindle-cell-mucoepidermoid-carcinoma-of-the-palatine-tonsil-with-crtc1-maml2-fusion-transcript-report-of-a-rare-case-in-a-17-year-old-boy-and-a-review-of-the-literature
#9
Giap Hean Goh, Chwee Ming Lim, Tomas Vanacek, Michal Michal, Fredrik Petersson
Mucoepidermoid carcinoma (MEC) with a predominant spindle cell composition occurring in the palatine tonsil is exceedingly rare. We present a case of a 17-year-old boy with an uncommon spindle cell variant of MEC arising in the palatine tonsil. Histologically, the tumor showed a solid, noncystic architecture and was composed of a predominant population of bland spindle to fusiform cells arranged in organoid nests with interspersed goblet cells and focal areas of ductular structures. Reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization (FISH) revealed the presence of a t(11;19) CRTC1-MAML2 gene fusion in this rare variant of MEC...
June 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28625977/acetylation-of-mastermind-like-1-by-p300-drives-the-recruitment-of-nack-to-initiate-notch-dependent-transcription
#10
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), also known as SGK223, is a critical coactivator of Notch signaling and binds to the Notch1 ternary complex. Herein we report that p300 and CBP acetylate Mastermind-like 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...
August 15, 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
#11
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...
October 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28535805/first-case-of-b-all-with-kmt2a-maml2-rearrangement-a-case-report
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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, histologic 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...
September 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
#18
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
#19
REVIEW
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
#20
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...
September 2017: Pediatric Blood & Cancer
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