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https://www.readbyqxmd.com/read/28550306/a-novel-somatic-transforming-mutation-in-the-extracellular-domain-of-epidermal-growth-factor-receptor-identified-in-myeloproliferative-neoplasm
#1
D A Casolari, T Nguyen, C M Butcher, D G Iarossi, C N Hahn, S C Bray, P Neufing, W T Parker, J Feng, K Z Y Maung, A Wee, L Vidovic, C H Kok, P G Bardy, S Branford, I D Lewis, S W Lane, H S Scott, D M Ross, R J D'Andrea
We describe a novel ERBB1/EGFR somatic mutation (p. C329R; c.985 T > C) identified in a patient with JAK2(V617F) Polycythaemia Vera (PV). This substitution affects a conserved cysteine residue in EGFR domain 2 and leads to the formation of a ligand-independent covalent receptor dimer, associated with increased transforming potential. Aberrant signalling from the EGFR(C329R) receptor is cell type-dependent and in the TF1.8 erythroid cell line expression of this mutant suppresses EPO-induced differentiation...
May 26, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28549835/characterization-of-liver-metastasis-and-its-effect-on-targeted-therapy-in-egfr-mutant-nsclc-a-multicenter-study
#2
Tao Jiang, Ruirui Cheng, Guowei Zhang, Chunxia Su, Chao Zhao, Xuefei Li, Jie Zhang, Fegnying Wu, Xiaoxia Chen, Guanghui Gao, Wei Li, Weijing Cai, Fei Zhou, Jing Zhao, Anwen Xiong, Shengxiang Ren, Guojun Zhang, Caicun Zhou, Jun Zhang
BACKGROUND: The risk factors for liver metastasis (LM) in patients with non-small-cell lung cancer (NSCLC) remain unknown. Whether LM predicts for the effect of first-line epidermal growth factor receptor (EGFR)-tyrosine kinase inhibitors (TKIs) in patients with EGFR-mutant NSCLC needs to be explored. PATIENTS AND METHODS: A total of 598 NSCLC patients from 3 centers underwent EGFR testing, and 293 had EGFR-mutant NSCLC. Of the 598 NSCLC patients, 99 had LM; 56 patients with EGFR-mutant NSCLC received EGFR-TKIs as first-line therapy...
May 5, 2017: Clinical Lung Cancer
https://www.readbyqxmd.com/read/28549417/switch-in-kras-mutational-status-during-an-unusual-course-of-disease-in-a-patient-with-advanced-pancreatic-adenocarcinoma-implications-for-translational-research
#3
Sibylle Baechmann, Steffen Ormanns, Michael Haas, Stephan Kruger, Anna Remold, Dominik Paul Modest, Thomas Kirchner, Andreas Jung, Jens Werner, Volker Heinemann, Stefan Boeck
BACKGROUND: Despite the introduction of novel effective treatment regimens like gemcitabine plus nab-paclitaxel and FOLFIRINOX, pancreatic ductal adenocarcinoma (PDAC) remains one of the most aggressive epithelial tumors. Among the genetic alterations frequently found in PDAC, mutations in the KRAS gene might play a prognostic role regarding overall survival and may also have the potential to predict the efficacy of anti-EGFR treatment. CASE PRESENTATION: We report the clinical case of a 69 year old Caucasian female that was diagnosed with histologically confirmed locally advanced PDAC with lymph node involvement in August 2010...
May 26, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28548967/detection-of-activating-and-acquired-resistant-mutation-in-plasma-from-egfr-mutated-nsclc-patients-by-peptide-nucleic-acid-pna-clamping-assisted-fluorescence-melting-curve-analysis
#4
Chang Gon Kim, Hyo Sup Shim, Min Hee Hong, Yoon Jin Cha, Su Jin Heo, Hyung Soon Park, Jee Hung Kim, Jin Gu Lee, Chang Young Lee, Byoung Chul Cho, Hye Ryun Kim
This study was designed to prospectively examine whether peptide nucleic acid clamping-assisted fluorescence melting curve analysis (PANAMutyper™) is feasible for the detection of activating and acquired resistant epidermal growth factor receptor (EGFR) mutation in plasma. Patients with non-small cell lung cancer harboring activating EGFR mutations who were scheduled to undergo EGFR-tyrosine kinase inhibitors (EGFR-TKIs) were enrolled between September 2011 and March 2015. A total of 102 patients with EGFR-mutated lung cancer were enrolled, 53 had available plasma samples at disease progression, and 28 underwent serial plasma sampling during EGFR-TKI treatment...
May 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28548128/genomic-profiling-of-breast-secretory-carcinomas-reveals-distinct-genetics-from-other-breast-cancers-and-similarity-to-mammary-analog-secretory-carcinomas
#5
Gregor Krings, Nancy M Joseph, Gregory R Bean, David Solomon, Courtney Onodera, Eric Talevich, Iwei Yeh, James P Grenert, Elizabeth Hosfield, Emily D Crawford, Richard C Jordan, Annemieke van Zante, Charles Zaloudek, Sandra J Shin, Yunn-Yi Chen
Secretory carcinomas of the breast are rare tumors with distinct histologic features, recurrent t(12;15)(p13;q25) translocation resulting in ETV6-NTRK3 gene fusion and indolent clinical behavior. Mammary analog secretory carcinomas arising in other sites are histopathologically similar to the breast tumors and also harbor ETV6-NTRK3 fusions. Breast secretory carcinomas are often triple (estrogen and progesterone receptor, HER2) negative with a basal-like immunophenotype. However, genomic studies are lacking, and whether these tumors share genetic features with other basal and/or triple negative breast cancers is unknown...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28546520/-omic-approach-in-non-smoker-female-with-lung-squamous-cell-carcinoma-pinpoints-to-germline-susceptibility-and-personalized-medicine
#6
Margherita Baldassarri, Chiara Fallerini, Francesco Cetta, Marco Ghisalberti, Cristiana Bellan, Simone Furini, Ottavia Spiga, Sergio Crispino, Giuseppe Gotti, Francesca Ariani, Piero Paladini, Alessandra Renieri, Elisa Frullanti
Purpose: Lung cancer is strongly associated to tobacco smoking. However, global statistics estimate that in females the proportion of lung cancer cases that is unrelated to tobacco smoking reaches fifty percent, making questionable the etiology of the disease. Materials and Methods: A never-smoker female with primary EGFR/KRAS/ALK-negative squamous cell carcinoma of the lung and their normal sibs were subjected to a novel integrative "omic" approach using a pedigree-based model for discovering genetic factors leading to cancer in the absence of well-known environmental trigger...
May 26, 2017: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/28544061/survival-difference-according-to-mutation-status-in-a-prospective-cohort-study-of-australian-patients-with-metastatic-non-small-cell-lung-carcinoma-nsclc
#7
Lavinia Tan, Marliese Alexander, Ann Officer, Michael MacManus, Linda Mileshkin, Ross Jennens, Dishan Herath, Richard de Boer, Stephen B Fox, David Ball, Benjamin Solomon
BACKGROUND AND OBJECTIVE: Non-small cell lung cancer (NSCLC) is a heterogeneous disease comprising not only different histologic subtypes but also different molecular subtypes. Our objective is to describe the frequency of oncogenic drivers in patients with metastatic NSCLC, the proportion of patients tested and survival difference according to mutation status in a single-institution study. METHODS: Metastatic NSCLC patients enrolled onto a prospective Thoracic Malignancies Cohort (TMC) Study between July 2012 and August 2016 were selected...
May 24, 2017: Internal Medicine Journal
https://www.readbyqxmd.com/read/28544031/ubiquitin-specific-protease-8-is-a-novel-prognostic-marker-in-early-stage-lung-adenocarcinoma
#8
Yunjung Kim, Aya Shiba-Ishii, Tomoki Nakagawa, Ryan Edbert Husni, Shingo Sakashita, Tomoyo Takeuchi, Masayuki Noguchi
Alterations of epidermal growth factor receptor (EGFR) expression frequently occur in early-stage lung adenocarcinoma. Ubiquitin-specific protease 8 (USP8) has been reported to stabilize EGFR protein at the plasma membrane through the recycling pathway. Here, we examined the correlation between USP8 expression and the expression or mutation status of EGFR, as well as the clinicopathological features of lung adenocarcinoma and patient outcome. Expression of EGFR and USP8 in surgically resected specimens of lung adenocarcinoma (82 cases) was examined by immunohistochemistry...
May 19, 2017: Pathology International
https://www.readbyqxmd.com/read/28540888/assessment-of-renal-function-in-indian-patients-with-sickle-cell-disease
#9
Bhaskar V K S Lakkakula, Henu Kumar Verma, Mona Choubey, Suneeta Patra, Prafukka Kumar Khodiar, Pradeep Kumar Patra
Sickle cell disease (SCD) and its variants are genetic disorders resulting from the presence of a mutated form of hemoglobin. Renal disease is one of the most frequent complications, and kidney damage starts very early and progresses throughout life causing severe complications. The present study is aimed to analyze creatinine-based estimated glomerular filtration rate (eGFR) in 616 SCD patients (507 HbSS and 109 HbSB+), receiving medical care at outpatient wing of Sickle Cell Institute, Chhattisgarh. Glomerular filtration rate (GFR) estimated using the Modification of Diet in Renal Disease (MDRD), Cockcroft-Gault, chronic kidney disease epidemiology collaboration (CKD-EPI) (<17 years analyzed with Schwartz), and SCD specific Jamaica Sickle Cell Cohort Study (JSCCS)-GFR equations were compared...
May 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28538405/marked-response-to-nab-paclitaxel-in-egfr-mutated-lung-neuroendocrine-carcinoma-a-case-report
#10
Jin-Yan Liang, Fan Tong, Fei-Fei Gu, Yang-Yang Liu, Yu-Lan Zeng, Xiao-Hua Hong, Kai Zhang, Li Liu
RATIONALE: Lung cancer is the leading cause of cancer-related death in the world. Tyrosine kinase inhibitors (TKIs), which target mutated epidermal growth factor receptor (EGFR), have been the first-line treatment of late-stage lung adenocarcinoma harboring EGFR mutation. EGFR mutations are mostly identified in lung adenocarcinoma. However, it is rarely seen in lung neuroendocrine carcinoma, and treatment strategies remain under reported. PATIENT CONCERNS: Here, we describe a 54-year-old Chinese man diagnosed with lung adenocarcinoma (cT4N3M1b, stage IV) with neuroendocrine differentiation and L858R mutation on exon 21...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28538219/molecular-alterations-in-patients-with-pulmonary-adenocarcinoma-presenting-with-malignant-pleural-effusion-at-the-first-diagnosis
#11
Erika F Rodriguez, Maryam Shabihkhani, Jamal Carter, Zahra Maleki
OBJECTIVES: The aim of this study was to report cytologic and molecular features of pulmonary adenocarcinoma patients presenting with a malignant pleural effusion at the first diagnosis. STUDY DESIGN: Patients who had a cytopathologic diagnosis conclusive for lung adenocarcinoma for the first time on their pleural fluid specimen, and molecular testing done, were studied. The control group consisted of patients with a malignant pleural effusion that developed during disease progression...
May 25, 2017: Acta Cytologica
https://www.readbyqxmd.com/read/28538213/prediction-of-egfr-and-kras-mutation-in-non-small-cell-lung-cancer-using-quantitative-18f-fdg-pet-ct-metrics
#12
Ryogo Minamimoto, Mehran Jamali, Olivier Gevaert, Sebastian Echegaray, Amanda Khuong, Chuong D Hoang, Joseph B Shrager, Sylvia K Plevritis, Daniel L Rubin, Ann N Leung, Sandy Napel, Andrew Quon
This study investigated the relationship between epidermal growth factor receptor (EGFR) and Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations in non-small-cell lung cancer (NSCLC) and quantitative FDG-PET/CT parameters including tumor heterogeneity. 131 patients with NSCLC underwent staging FDG-PET/CT followed by tumor resection and histopathological analysis that included testing for the EGFR and KRAS gene mutations. Patient and lesion characteristics, including smoking habits and FDG uptake parameters, were correlated to each gene mutation...
May 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/28537914/epigenomic-study-identifies-a-novel-mesenchyme-homeobox2-gli1-transcription-axis-involved-in-cancer-drug-resistance-overall-survival-and-therapy-prognosis-in-lung-cancer-patients
#13
Leonel Armas-López, Patricia Piña-Sánchez, Oscar Arrieta, Enrique Guzman de Alba, Blanca Ortiz-Quintero, Patricio Santillán-Doherty, David C Christiani, Joaquín Zúñiga, Federico Ávila-Moreno
Several homeobox-related gene (HOX) transcription factors such as mesenchyme HOX-2 (MEOX2) have previously been associated with cancer drug resistance, malignant progression and/or clinical prognostic responses in lung cancer patients; however, the mechanisms involved in these responses have yet to be elucidated. Here, an epigenomic strategy was implemented to identify novel MEOX2 gene promoter transcription targets and propose a new molecular mechanism underlying lung cancer drug resistance and poor clinical prognosis...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28537806/analytic-and-clinical-validation-of-an-ultrasensitive-quantitative-polymerase-chain-reaction-assay-for-egfr-mutation-analysis-with-circulating-tumor-dna
#14
Xiaowei Wang, Yunhua Gao, Bei Wang, Zhenrong Zhang, Chaoyang Liang, Hongxiang Feng, Yongqing Guo, Jiping Da, Minli Mo, Mengyun Zhang, Feng Ding, Zhao Chen, Hui Li, Deruo Liu
CONTEXT: - The mutation analysis of epidermal growth factor receptor (EGFR) has become a common test to guide therapeutic decision making for lung cancer. Molecular testing with circulating tumor DNA in plasma allows diagnosis of mutations when tumor tissue is not available as well as monitoring treatment response with repeat biopsies. OBJECTIVES: - To develop a timely and cost-effective assay that can accurately detect EGFR mutations in circulating tumor DNA and to evaluate the analytic and clinical performance of the assay...
May 24, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28537764/gefitinib-and-egfr-gene-copy-number-aberrations-in-esophageal-cancer
#15
Russell D Petty, Asa Dahle-Smith, David A J Stevenson, Aileen Osborne, Doreen Massie, Caroline Clark, Graeme I Murray, Susan J Dutton, Corran Roberts, Irene Y Chong, Wasat Mansoor, Joyce Thompson, Mark Harrison, Anirban Chatterjee, Stephen J Falk, Sean Elyan, Angel Garcia-Alonso, David Walter Fyfe, Jonathan Wadsley, Ian Chau, David R Ferry, Zosia Miedzybrodzka
Purpose The Cancer Esophagus Gefitinib trial demonstrated improved progression-free survival with the epidermal growth factor receptor (EGFR) tyrosine kinase inhibitor gefitinib relative to placebo in patients with advanced esophageal cancer who had disease progression after chemotherapy. Rapid and durable responses were observed in a minority of patients. We hypothesized that genetic aberration of the EGFR pathway would identify patients benefitting from gefitinib. Methods A prespecified, blinded molecular analysis of Cancer Esophagus Gefitinib trial tumors was conducted to compare efficacy of gefitinib with that of placebo according to EGFR copy number gain (CNG) and EGFR, KRAS, BRAF, and PIK3CA mutation status...
May 24, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28536156/gefitinib-delays-nsclc-recurrence-after-surgery
#16
(no author information available yet)
For patients with non-small cell lung cancer and activating EGFR mutations who have had surgery, gefitinib appears to be more effective than chemotherapy in delaying disease recurrence. In a phase III trial, patients given the EGFR inhibitor were disease-free for 10 months longer than those who received chemotherapy.
May 23, 2017: Cancer Discovery
https://www.readbyqxmd.com/read/28535583/molecular-testing-of-brain-tumor
#17
REVIEW
Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi
The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53 , and ATRX , oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC , FUBP1 , and the promoter region of telomerase reverse transcriptase ( TERTp )...
May 2017: Journal of Pathology and Translational Medicine
https://www.readbyqxmd.com/read/28532538/-aberrant-expression-of-rb-and-prb-780-prb-795-in-lung-adenocarcinoma-patients-with-egfr-mutations-and-their-clinical-significance
#18
Yunlong Dong, Minghui Liu, Yongwen Li, Ying Li, Chenlong Zhao, Yin Yuan, Hui Du, Zihe Zhang, Hongbing Zhang, Hongyu Liu, Jun Chen
BACKGROUND: Rb is an important tumor suppressor gene that regulates cell cycle progression. Rb dysfunction can lead to over proliferation of cells and lead to the occurrence of tumor. Loss or reduced Rb expression as well as over phosphorylation of Rb are important mechanisms of Rb dysfunction. The mutated epidermal growth factor receptor (EGFR) gene is an important driver gene in lung adenocarcinoma, and plays an important role in the development of lung cancer. The purpose of this study was to investigate the status of Rb in lung adenocarcinoma patients with EGFR mutations and define the clinicopathologic features...
May 20, 2017: Zhongguo Fei Ai za Zhi, Chinese Journal of Lung Cancer
https://www.readbyqxmd.com/read/28529902/current-state-of-immunotherapy-for-non-small-cell-lung-cancer
#19
REVIEW
Jyoti Malhotra, Salma K Jabbour, Joseph Aisner
Lung cancer is the leading cause of cancer mortality and non-small cell lung cancer (NSCLC) accounts for more than 85% of all lung cancers. Platinum-based doublet chemotherapy is the standard first-line treatment for metastatic NSCLC when genomic testing reveals no targetable alteration such as epidermal growth factor receptor (EGFR) mutations, anaplastic lymphoma kinase (ALK) or ROS1 translocation/re-arrangements. But, chemotherapy produces response rates ranging only between 15-30%. For patients whose disease progresses on first-line chemotherapy, second-line therapy historically consists of taxane-based salvage chemotherapy with a response rate of less than 25%...
April 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28529628/cross-platform-comparison-of-four-leading-technologies-for-detecting-egfr-mutations-in-circulating-tumor-dna-from-non-small-cell-lung-carcinoma-patient-plasma
#20
Ting Xu, Xiaozheng Kang, Xiaofang You, Liang Dai, Dequan Tian, Wanpu Yan, Yongbo Yang, Hongchao Xiong, Zhen Liang, Grace Q Zhao, Shengrong Lin, Ke-Neng Chen, Guobing Xu
Analysis of circulating tumor DNA (ctDNA) is emerging as a powerful tool for guiding targeted therapy and monitoring tumor evolution in patients with non-small cell lung cancer (NSCLC), especially when representative tissue biopsies are not available. Here, we have compared the ability of four leading technology platforms to detect epidermal growth factor receptor (EGFR) mutations (L858R, exon 19 deletion, T790M and G719X) in ctDNA from NSCLC patients. Two amplification refractory mutation systems (cobas-ARMS and ADx-ARMS), a droplet digital polymerase chain reaction (ddPCR) and a next-generation sequencing (Firefly NGS) platform were included in the comparison...
2017: Theranostics
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