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https://www.readbyqxmd.com/read/27925203/the-genetic-landscape-of-breast-carcinomas-with-neuroendocrine-differentiation
#1
Caterina Marchiò, Felipe C Geyer, Charlotte Ky Ng, Salvatore Piscuoglio, Maria R De Filippo, Marco Cupo, Anne M Schultheis, Raymond S Lim, Kathleen A Burke, Elena Guerini-Rocco, Mauro Papotti, Larry Norton, Anna Sapino, Britta Weigelt, Jorge S Reis-Filho
Neuroendocrine breast carcinomas (NBCs) account for 2-5% of all invasive breast cancers and are histologically similar to neuroendocrine tumours from other sites. They typically express oestrogen receptor (ER), are HER2-negative and of luminal subtype. Here we sought to define the mutational profile of NBCs, and to investigate whether NBCs and common forms of luminal (ER+/HER2-) breast cancer display distinct repertoires of somatic mutations. Eighteen ER+/HER2- NBCs, defined as harbouring >50% of tumour cells expressing chromogranin A and/or synaptophysin, and matched normal tissue were microdissected and subjected to massively parallel sequencing targeting all exons of 254 genes most frequently mutated in breast cancer and/or related to DNA repair...
December 7, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27917007/roles-of-ras-homolog-a-in-invasive-ductal-breast-carcinoma
#2
Eriko Murakami, Yoko Nakanishi, Yukari Hirotani, Sumie Ohni, Xiaoyan Tang, Shinobu Masuda, Katsuhisa Enomoto, Kenichi Sakurai, Sadao Amano, Tsutomu Yamada, Norimichi Nemoto
Breast cancer has a poor prognosis owing to tumor cell invasion and metastasis. Although Ras homolog (Rho) A is involved in tumor cell invasion, its role in breast carcinoma is unclear. Here, RhoA expression was examined in invasive ductal carcinoma (IDC), with a focus on its relationships with epidermal-mesenchymal transition (EMT) and collective cell invasion. Forty-four surgical IDC tissue samples and two normal breast tissue samples were obtained. RhoA, E-cadherin, vimentin, and F-actin protein expression were analyzed by immunohistochemistry...
November 1, 2016: Acta Histochemica et Cytochemica
https://www.readbyqxmd.com/read/27915434/differences-in-the-mutational-landscape-of-triple-negative-breast-cancer-in-african-americans-and-caucasians
#3
Foluso O Ademuyiwa, Yu Tao, Jingqin Luo, Katherine Weilbaecher, Cynthia X Ma
BACKGROUND: Triple-negative breast cancer (TNBC) occurs at higher frequency in African Americans compared with Caucasians. It is unclear if the biology of TNBC is different in African American versus Caucasians. In this study, we sought to evaluate racial differences in the molecular pathology of TNBC. METHODS: Using data from The Cancer Genome Atlas, we identified TNBC patients with information on race. We analyzed differences in clinical characteristics, tumor somatic mutations, and gene expression patterns by race from whole exome and microarray data...
December 3, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27913435/idh2-mutations-define-a-unique-subtype-of-breast-cancer-with-altered-nuclear-polarity
#4
Sarah Chiang, Britta Weigelt, Huei-Chi Wen, Fresia Pareja, Ashwini Raghavendra, Luciano G Martelotto, Kathleen A Burke, Thais Basili, Anqi Li, Felipe C Geyer, Salvatore Piscuoglio, Charlotte K Y Ng, Achim A Jungbluth, Jörg Balss, Stefan Pusch, Gabrielle M Baker, Kimberly S Cole, Andreas von Deimling, Julie M Batten, Jonathan D Marotti, Hwei-Choo Soh, Benjamin L McCalip, Jonathan Serrano, Raymond S Lim, Kalliopi P Siziopikou, Song Lu, Xiaolong Liu, Tarek Hammour, Edi Brogi, Matija Snuderl, A John Iafrate, Jorge S Reis-Filho, Stuart J Schnitt
Solid papillary carcinoma with reverse polarity (SPCRP) is a rare breast cancer subtype with an obscure etiology. In this study, we sought to describe its unique histopathologic features and to identify the genetic alterations that underpin SPCRP using massively parallel whole-exome and targeted sequencing. The morphologic and immunohistochemical features of SPCRP support the invasive nature of this subtype. Ten of 13 (77%) SPCRPs harbored hotspot mutations at R172 of the isocitrate dehydrogenase IDH2, of which 8 of 10 displayed concurrent pathogenic mutations affecting PIK3CA or PIK3R1 One of the IDH2 wild-type SPCRPs harbored a TET2 Q548* truncating mutation coupled with a PIK3CA H1047R hotspot mutation...
October 20, 2016: Cancer Research
https://www.readbyqxmd.com/read/27910071/pi3k-pten-akt-genetic-mouse-models-of-endometrial-carcinoma
#5
Ayesha Joshi, Lora Hedrick Ellenson
The PI3K/PTEN/AKT pathway is the most frequently mutated pathway in endometrial carcinoma. Mouse models are invaluable tools to understand, at the molecular level, the contributions of components of this pathway towards initiation and progression of endometrial carcinoma. This chapter summarizes results of germline and tissue specific knockout mouse models generated to understand how mutations in components of this pathway lead to development of carcinoma and its interactions with other frequently altered pathways like mismatch repair and estrogen signaling...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27904775/disease-evolution-and-heterogeneity-in-bilateral-breast-cancer
#6
Elena Fountzilas, Vassiliki Kotoula, Flora Zagouri, Eleni Giannoulatou, George Kouvatseas, George Pentheroudakis, Triantafyllia Koletsa, Mattheos Bobos, Kyriaki Papadopoulou, Epaminontas Samantas, Efterpi Demiri, Spyros Miliaras, Christos Christodoulou, Sofia Chrisafi, Evangelia Razis, Florentia Fostira, Dimitrios Pectasides, George Zografos, George Fountzilas
Bilateral breast cancers (BBC) are currently treated as independent tumors arising in the same patient. Herein, we investigated whether BBC indeed evolve independently at the genomic level. We examined paired targeted next generation sequencing genotypes from 155 paraffin tumors corresponding to 76 BBC patients (75 women and one man; 52 concurrent and 24 metachronous), for coding mutations (amino acid changing, minor allele frequency <0.1%) and single nucleotide polymorphism (SNP) zygosity. Germline genotypes were available for 29 patients...
2016: American Journal of Cancer Research
https://www.readbyqxmd.com/read/27901576/the-high-frequency-of-pik3ca-mutations-in-iranian-breast-cancer-patients
#7
Ghasem Azizi Tabesh, Pantea Izadi, Forouzandeh Fereidooni, Amir Nader Emami Razavi, Javad Tavakkoly Bazzaz
In breast cancer, somatic mutations of PIK3CA oncogene are common. We investigated the mutational status of exons 9 and 20 of the PIK3CA gene by polymerase chain reaction and direct sequencing in 80 breast tumors, and observed that 45% of these contained PIK3CA mutations in the mentioned exons. These mutations were found more in progesterone receptor positive and Her2- tumors, but this association did not reach a statistically significant level. Also, we observed a significant association between PIK3CA mutations and low-grade tumors...
November 30, 2016: Cancer Investigation
https://www.readbyqxmd.com/read/27900088/favorable-control-of-advanced-colon-adenocarcinoma-with-severe-bone-marrow-metastasis-a-case-report
#8
Fumiyasu Hanamura, Yoshihiro Shibata, Tsuyoshi Shirakawa, Miyuki Kuwayama, Hisanobu Oda, Hiroshi Ariyama, Kenichi Taguchi, Taito Esaki, Eishi Baba
Colorectal cancer (CRC) has a propensity to metastasize to the liver, lungs and regional abdominal lymph nodes, but rarely to the bone marrow. A 60-year-old man presented to the National Hospital Organization Kyushu Cancer Center with a 4-week history of persistent lower back pain, anorexia and difficulty defecating. Complete blood count revealed severe thrombocytopenia and erythroblastosis, suggesting a hematological malignancy. However, the bone marrow examination demonstrated involvement by a moderately to poorly differentiated adenocarcinoma, but no hematopoietic abnormalities...
November 2016: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/27899992/beside-p53-and-pten-identification-of-molecular-alterations-of-the-ras-mapk-and-pi3k-akt-signaling-pathways-in-high-grade-serous-ovarian-carcinomas-to-determine-potential-novel-therapeutic-targets
#9
Shuhui Chen, Elisa Cavazza, Catherine Barlier, Julia Salleron, Pierre Filhine-Tresarrieu, Céline Gavoilles, Jean-Louis Merlin, Alexandre Harlé
Despite great histological and molecular heterogeneity, the clinical management of high-grade ovarian carcinomas remains unspecialized. As a major subgroup, high-grade serous ovarian carcinomas (HGSOCs) require novel therapies. In addition to utilizing conventional histological prognostic markers and performing oncogenetic investigations, the molecular diagnostic method of next generation sequencing (NGS) was performed to identify 'druggable' targets that could provide access to innovative therapy. The present study was performed in 45 HGSOC patients (mean age, 59...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27893178/comprehensive-genetic-characterization-of-rosette-forming-glioneuronal-tumors-independent-component-analysis-by-tissue-microdissection
#10
Yohei Kitamura, Takashi Komori, Makoto Shibuya, Kentaro Ohara, Yuko Saito, Saeko Hayashi, Aya Sasaki, Eiji Nakagawa, Ryosuke Tomio, Akiyoshi Kakita, Masashi Nakatsukasa, Kazunari Yoshida, Hikaru Sasaki
A rosette-forming glioneuronal tumor (RGNT) is a rare, mixed neuronal-glial tumor characterized by biphasic architecture of glial and neurocytic components. The number of reports of genetic analyses of RGNTs is few. Additionally, the genetic background of the unique biphasic pathological characteristics of such mixed neuronal-glial tumors remains unclear. To clarify the genetic background of RGNTs, we performed separate comprehensive genetic analyses of glial and neurocytic components of five RGNTs, by tissue microdissection...
November 28, 2016: Brain Pathology
https://www.readbyqxmd.com/read/27892457/amplification-of-usp13-drives-ovarian-cancer-metabolism
#11
Cecil Han, Lifeng Yang, Hyun Ho Choi, Joelle Baddour, Abhinav Achreja, Yunhua Liu, Yujing Li, Jiada Li, Guohui Wan, Cheng Huang, Guang Ji, Xinna Zhang, Deepak Nagrath, Xiongbin Lu
Dysregulated energetic metabolism has been recently identified as a hallmark of cancer. Although mutations in metabolic enzymes hardwire metabolism to tumourigenesis, they are relatively infrequent in ovarian cancer. More often, cancer metabolism is re-engineered by altered abundance and activity of the metabolic enzymes. Here we identify ubiquitin-specific peptidase 13 (USP13) as a master regulator that drives ovarian cancer metabolism. USP13 specifically deubiquitinates and thus upregulates ATP citrate lyase and oxoglutarate dehydrogenase, two key enzymes that determine mitochondrial respiration, glutaminolysis and fatty acid synthesis...
November 28, 2016: Nature Communications
https://www.readbyqxmd.com/read/27890237/mosaic-disorders-of-the-pi3k-pten-akt-tsc-mtorc1-signaling-pathway
#12
REVIEW
Neera Nathan, Kim M Keppler-Noreuil, Leslie G Biesecker, Joel Moss, Thomas N Darling
Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectively. Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Distinct features observed in these mosaic conditions in part reflect differences in embryological timing or tissue type harboring the mutant cells...
January 2017: Dermatologic Clinics
https://www.readbyqxmd.com/read/27889930/receptor-tyrosine-kinase-amplification-is-predictive-of-distant-metastasis-in-patients-with-oral-squamous-cell-carcinoma
#13
Yu Oikawa, Kei-Ichi Morita, Kou Kayamori, Kousuke Tanimoto, Kei Sakamoto, Hiroto Katoh, Shumpei Ishikawa, Johji Inazawa, Hiroyuki Harada
This study aimed to clarify the genomic factors associated with the diagnosis and prognosis of oral squamous cell carcinoma via next-generation sequencing. We evaluated data from 220 cases of oral squamous cell carcinoma. Genomic DNA was eluted using formalin-fixed, paraffin-embedded samples, and targeted resequencing of 50 cancer-related genes was performed. In total, 311 somatic mutations were detected in 220 patients, consisting of 68 synonymous mutations and 243 non-synonymous mutations. Genes carrying mutations included TP53, CDKN2A, and PIK3CA in 79 (35...
November 27, 2016: Cancer Science
https://www.readbyqxmd.com/read/27886225/no-evidence-of-nras-mutation-in-squamous-cell-anal-carcinoma-scac
#14
Laura Capelli, Andrea Casadei Gardini, Emanuela Scarpi, Giovanni Luca Frassineti, Luca Saragoni, Maurizio Puccetti, Mario Scartozzi, Massimo Giannini, Stefano Tamberi, Jody Corbelli, Paola Ulivi
Epidermal growth factor receptor (EGFR) is usually expressed in squamous cell anal carcinoma (SCAC) and anti-EGFR agents could represent a valid treatment strategy, also considering that KRAS and BRAF mutations are rare events in this type of cancer. However, no data are available on NRAS status in SCAC. In this study we analyzed NRAS status (exons 2-4) by Pyrosequencing in a case series of 50 SCAC patients previously characterized in our laboratory for KRAS, BRAF, PIK3CA mutations and HPV and HIV infections...
November 25, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27882657/using-a-semi-conductor-sequencing-based-panel-for-genotyping-of-hpv-positive-and-hpv-negative-oropharyngeal-cancer-a-retrospective-pilot-study
#15
Janneke C Ham, Bastiaan B J Tops, Chantal M L Driessen, Annemiek W M van Raaij, Piet J Slootweg, Willem J G Melchers, Marjolijn J L Ligtenberg, Carla M L van Herpen
OBJECTIVES: The aim of this study was to assess the feasibility of testing actionable mutations in small amounts of formalin fixed paraffin embed material in multiple genes of the receptor tyrosine kinase pathway and to determine the frequency of these mutations in human papillomavirus (HPV)-positive and HPV-negative oropharyngeal cancer (OPC). DESIGN: A retrospective pilot study was performed. SETTING: In OPC no predictive markers for response to epidermal growth factor receptor (EGFR) inhibition are known...
November 24, 2016: Clinical Otolaryngology
https://www.readbyqxmd.com/read/27880766/sox2-and-pi3k-cooperate-to-induce-and-stabilize-a-squamous-committed-stem-cell-injury-state-during-lung-squamous-cell-carcinoma-pathogenesis
#16
Bo Ram Kim, Emily Van de Laar, Michael Cabanero, Shintaro Tarumi, Stefan Hasenoeder, Dennis Wang, Carl Virtanen, Takaya Suzuki, Bizhan Bandarchi, Shingo Sakashita, Nhu An Pham, Sharon Lee, Shaf Keshavjee, Thomas K Waddell, Ming-Sound Tsao, Nadeem Moghal
Although cancers are considered stem cell diseases, mechanisms involving stem cell alterations are poorly understood. Squamous cell carcinoma (SQCC) is the second most common lung cancer, and its pathogenesis appears to hinge on changes in the stem cell behavior of basal cells in the bronchial airways. Basal cells are normally quiescent and differentiate into mucociliary epithelia. Smoking triggers a hyperproliferative response resulting in progressive premalignant epithelial changes ranging from squamous metaplasia to dysplasia...
November 2016: PLoS Biology
https://www.readbyqxmd.com/read/27880728/analysis-of-mirna-profiles-identified-mir-196a-as-a-crucial-mediator-of-aberrant-pi3k-akt-signaling-in-lung-cancer-cells
#17
Ilaria Guerriero, Daniela D'Angelo, Pierlorenzo Pallante, Mafalda Santos, Marianna Scrima, Donatella Malanga, Carmela De Marco, Maria Ravo, Alessandro Weisz, Carmelo Laudanna, Michele Ceccarelli, Geppino Falco, Antonia Rizzuto, Giuseppe Viglietto
Hyperactivation of the PI3K/AKT pathway is observed in most human cancer including lung carcinomas. Here we have investigated the role of miRNAs as downstream targets of activated PI3K/AKT signaling in Non Small Cell Lung Cancer (NSCLC). To this aim, miRNA profiling was performed in human lung epithelial cells (BEAS-2B) expressing active AKT1 (BEAS-AKT1-E17K), active PI3KCA (BEAS-PIK3CA-E545K) or with silenced PTEN (BEAS-shPTEN).Twenty-four differentially expressed miRNAs common to BEAS-AKT1-E17K, BEAS-PIK3CA-E545K and BEAS-shPTEN cells were identified through this analysis, with miR-196a being the most consistently up-regulated miRNA...
November 17, 2016: Oncotarget
https://www.readbyqxmd.com/read/27879995/egfr-gene-copy-number-predicts-response-to-anti-egfr-treatment-in-ras-wild-type-and-ras-braf-pik3ca-wild-type-metastatic-colorectal-cancer
#18
Annika Ålgars, Jari Sundström, Minnamaija Lintunen, Terhi Jokilehto, Soili Kytölä, Milja Kaare, Reetta Vainionpää, Arto Orpana, Pia Österlund, Ari Ristimäki, Olli Carpen, Raija Ristamäki
Anti-EGFR antibodies are used for the treatment of RAS wild type metastatic colorectal cancer. We previously showed that EGFR gene copy number (GCN) predicts response to anti-EGFR therapy in KRAS exon 2 wild type metastatic colorectal cancer. The aim of our study was to analyse the predictive role of EGFR GCN in RAS/BRAF/PIK3CA wild type metastatic colorectal cancer. The material included 102 patients with KRAS exon 2 wild type metastatic colorectal cancer treated with anti-EGFR ± cytotoxic therapy. Next generation sequencing was used for KRAS, NRAS, BRAF and PIK3CA gene mutation analyses...
November 5, 2016: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/27877056/a-retrospective-analysis-of-the-clinicopathological-and-molecular-characteristics-of-pulmonary-blastoma
#19
Yuan-Yuan Zhao, Lin Liu, Ting Zhou, Ning-Ning Zhou, Yun-Peng Yang, Xue Hou, Yong Li, Hong-Yun Zhao, Yan Huang, Li Zhang
PURPOSE: The aim of this study was to analyze and summarize the clinicopathological and molecular characteristics of classic biphasic pulmonary blastoma (PB) to improve its diagnosis and treatment. PATIENTS AND METHODS: A retrospective analysis was performed in patients who were diagnosed with PB at Sun Yat-Sen University Cancer Center from March 1995 to March 2015. Genomic DNA was profiled using a capture-based targeted sequencing panel. RESULTS: Sixteen patients with an average age of 40 years were included in this study...
2016: OncoTargets and Therapy
https://www.readbyqxmd.com/read/27873319/lung-neuroendocrine-tumours-deep-sequencing-of-the-four-who-histotypes-reveals-chromatin-remodelling-genes-as-major-players-and-a-prognostic-role-for-tert-rb1-men1-and-kmt2d
#20
Michele Simbolo, Andrea Mafficini, Katarzyna O Sikora, Matteo Fassan, Stefano Barbi, Vincenzo Corbo, Luca Mastracci, Borislav Rusev, Federica Grillo, Caterina Vicentini, Roberto Ferrara, Sara Pilotto, Federico Davini, Giuseppe Pelosi, Rita T Lawlor, Marco Chilosi, Giampaolo Tortora, Emilio Bria, Gabriella Fontanini, Marco Volante, Aldo Scarpa
Next-generation sequencing (NGS) was applied to 148 lung neuroendocrine tumours (LNET) comprising the 4 WHO classification categories: 53 typical carcinoid (TC), 35 atypical carcinoid (AC), 27 large cell neuroendocrine carcinoma (LCNEC), and 33 small cell lung carcinoma (SCLC). A discovery screen was conducted on 46 samples using whole-exome sequencing and high-coverage targeted sequencing of 418 genes. Eighty-eight recurrently mutated genes from both the discovery screen and current literature were verified in the 46 cases of the discovery screen and validated on additional 102 LNET by targeted NGS, and their prevalence was evaluated on the whole series...
November 22, 2016: Journal of Pathology
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