Correlation of treatment outcome in sanger/RT‑qPCR KIT/PDGFRA wild‑type metastatic gastrointestinal stromal tumors with next‑generation sequencing results: A single‑center report.
Oncology Reports
Unk, Mojca M; Bombač, Alenka A; Jezeršek Novaković, Barbara B; Stegel, Vida V; Šetrajčič Dragoš, Vita V; Blatnik, Olga O; Klančar, Gašper G; Novaković, Srdjan S
Publication Date: 2022-09
Variant appearance in text: PDGFRA: 1682T>A; Val561Asp
Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.
Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.
International Journal Of Molecular Medicine
Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R
Publication Date: 2022-05
Variant appearance in text: PDGFRA: 1682T>A; Val561Asp
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.
Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Gastrointestinal Stromal Tumor in Monozygotic Twins Shows Distinct Mutational Status: A Case Report.
The American Journal Of Case Reports
Sobral-Leite, Marcelo M; da Silva, Jesse Lopes JL; Pimenta-Inada, Haynna Kimie HK; Mendes Boisson, Andrea Sobral AS; Romeiro, Priscila de Almeida PA; Soares Parago, Fernando Mallet FM; Valadão da Silva, Marcus Vinicius M MVM; de Melo, Andreia Cristina AC
Identification of Wee1 as a target in combination with avapritinib for gastrointestinal stromal tumor treatment.
Jci Insight
Ye, Shuai S; Sharipova, Dinara D; Kozinova, Marya M; Klug, Lilli L; D'Souza, Jimson J; Belinsky, Martin G MG; Johnson, Katherine J KJ; Einarson, Margret B MB; Devarajan, Karthik K; Zhou, Yan Y; Litwin, Samuel S; Heinrich, Michael C MC; DeMatteo, Ronald R; von Mehren, Margaret M; Duncan, James S JS; Rink, Lori L
A Novel Kindred with Familial Gastrointestinal Stromal Tumors Caused by a Rare KIT Germline Mutation (N655K): Clinico-Pathological Presentation and TKI Sensitivity.
Journal Of Personalized Medicine
Fornasarig, Mara M; Gasparotto, Daniela D; Foltran, Luisa L; Campigotto, Michele M; Lombardi, Sara S; Del Savio, Elisa E; Buonadonna, Angela A; Puglisi, Fabio F; Sulfaro, Sandro S; Canzonieri, Vincenzo V; Cannizzaro, Renato R; Maestro, Roberta R
Gene Expression Profiling of PDGFRA Mutant GIST Reveals Immune Signatures as a Specific Fingerprint of D842V Exon 18 Mutation.
Frontiers In Immunology
Indio, Valentina V; Ravegnini, Gloria G; Astolfi, Annalisa A; Urbini, Milena M; Saponara, Maristella M; De Leo, Antonio A; Gruppioni, Elisa E; Tarantino, Giuseppe G; Angelini, Sabrina S; Pession, Andrea A; Pantaleo, Maria Abbondanza MA; Nannini, Margherita M
Overexpression of Platelet-Derived Growth Factor Receptor Α D842V Mutants Prevents Liver Regeneration and Chemically Induced Hepatocarcinogenesis via Inhibition of MET and EGFR.
Journal Of Cancer
Du, Zhao-Qing ZQ; Dong, Jian J; Li, Mu-Xing MX; Zhang, Jian-Fei JF; Bi, Jian-Bin JB; Ren, Yi-Fan YF; Zhang, Li-Na LN; Wu, Rong-Qian RQ; Monga, Satdarshan P S SPS; Lv, Yi Y; Zhang, Xu-Feng XF; Wang, Hai-Chen HC
Targeted Deep Sequencing Uncovers Cryptic KIT Mutations in KIT/PDGFRA/SDH/RAS-P Wild-Type GIST.
Frontiers In Oncology
Astolfi, Annalisa A; Indio, Valentina V; Nannini, Margherita M; Saponara, Maristella M; Schipani, Angela A; De Leo, Antonio A; Altimari, Annalisa A; Vincenzi, Bruno B; Comandini, Danila D; Grignani, Giovanni G; Secchiero, Paola P; Urbini, Milena M; Pantaleo, Maria Abbondanza MA
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.
Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Clinical value of next generation sequencing of plasma cell-free DNA in gastrointestinal stromal tumors.
Bmc Cancer
Serrano, César C; Vivancos, Ana A; López-Pousa, Antonio A; Matito, Judit J; Mancuso, Francesco M FM; Valverde, Claudia C; Quiroga, Sergi S; Landolfi, Stefania S; Castro, Sandra S; Dopazo, Cristina C; Sebio, Ana A; Virgili, Anna C AC; Menso, María M MM; Martín-Broto, Javier J; Sansó, Miriam M; García-Valverde, Alfonso A; Rosell, Jordi J; Fletcher, Jonathan A JA; George, Suzanne S; Carles, Joan J; Arribas, Joaquín J
Standardization of Somatic Variant Classifications in Solid and Haematological Tumours by a Two-Level Approach of Biological and Clinical Classes: An Initiative of the Belgian ComPerMed Expert Panel.
Cancers
Froyen, Guy G; Le Mercier, Marie M; Lierman, Els E; Vandepoele, Karl K; Nollet, Friedel F; Boone, Elke E; Van der Meulen, Joni J; Jacobs, Koen K; Lambin, Suzan S; Vander Borght, Sara S; Van Valckenborgh, Els E; Antoniou, Aline A; Hébrant, Aline A
Myxoid glioneuronal tumor, PDGFRA p.K385-mutant: clinical, radiologic, and histopathologic features.
Brain Pathology (Zurich, Switzerland)
Lucas, Calixto-Hope G CG; Villanueva-Meyer, Javier E JE; Whipple, Nicholas N; Oberheim Bush, Nancy Ann NA; Cooney, Tabitha T; Chang, Susan S; McDermott, Michael M; Berger, Mitchel M; Cham, Elaine E; Sun, Peter P PP; Putnam, Angelica A; Zhou, Hong H; Bollo, Robert R; Cheshier, Samuel S; Poppe, Matthew M MM; Fung, Kar-Ming KM; Sung, Sarah S; Glenn, Chad C; Fan, Xuemo X; Bannykh, Serguei S; Hu, Jethro J; Danielpour, Moise M; Li, Rong R; Alva, Elizabeth E; Johnston, James J; Van Ziffle, Jessica J; Onodera, Courtney C; Devine, Patrick P; Grenert, James P JP; Lee, Julieann C JC; Pekmezci, Melike M; Tihan, Tarik T; Bollen, Andrew W AW; Perry, Arie A; Solomon, David A DA
Immune microenvironment profiling of gastrointestinal stromal tumors (GIST) shows gene expression patterns associated to immune checkpoint inhibitors response.
Oncoimmunology
Pantaleo, Maria A MA; Tarantino, Giuseppe G; Agostinelli, Claudio C; Urbini, Milena M; Nannini, Margherita M; Saponara, Maristella M; Castelli, Chiara C; Stacchiotti, Silvia S; Fumagalli, Elena E; Gatto, Lidia L; Santini, Donatella D; De Leo, Antonio A; Marafioti, Teresa T; Akarca, Ayse A; Sabattini, Elena E; Pession, Andrea A; Ardizzoni, Andrea A; Indio, Valentina V; Astolfi, Annalisa A
Controlling cellular distribution of drugs with permeability modifying moieties.
Medchemcomm
Richardson, Paul L PL; Marin, Violeta L VL; Koeniger, Stormy L SL; Baranczak, Aleksandra A; Wilsbacher, Julie L JL; Kovar, Peter J PJ; Bacon-Trusk, Patricia E PE; Cheng, Min M; Hopkins, Todd A TA; Haman, Sandra T ST; Vasudevan, Anil A
Targeted mutation detection in breast cancer using MammaSeq™.
Breast Cancer Research : Bcr
Smith, Nicholas G NG; Gyanchandani, Rekha R; Shah, Osama S OS; Gurda, Grzegorz T GT; Lucas, Peter C PC; Hartmaier, Ryan J RJ; Brufsky, Adam M AM; Puhalla, Shannon S; Bahreini, Amir A; Kota, Karthik K; Wald, Abigail I AI; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Oesterreich, Steffi S; Lee, Adrian V AV
Neomorphic PDGFRA extracellular domain driver mutations are resistant to PDGFRA targeted therapies.
Nature Communications
Ip, Carman K M CKM; Ng, Patrick K S PKS; Jeong, Kang Jin KJ; Shao, S H SH; Ju, Zhenlin Z; Leonard, P G PG; Hua, Xu X; Vellano, Christopher P CP; Woessner, Richard R; Sahni, Nidhi N; Scott, Kenneth L KL; Mills, Gordon B GB
Prodrugs for colon-restricted delivery: Design, synthesis, and in vivo evaluation of colony stimulating factor 1 receptor (CSF1R) inhibitors.
Plos One
George, Dawn M DM; Huntley, Raymond J RJ; Cusack, Kevin K; Duignan, David B DB; Hoemann, Michael M; Loud, Jacqueline J; Mario, Regina R; Melim, Terry T; Mullen, Kelly K; Somal, Gagandeep G; Wang, Lu L; Edmunds, Jeremy J JJ
Integrative omics analyses broaden treatment targets in human cancer.
Genome Medicine
Sengupta, Sohini S; Sun, Sam Q SQ; Huang, Kuan-Lin KL; Oh, Clara C; Bailey, Matthew H MH; Varghese, Rajees R; Wyczalkowski, Matthew A MA; Ning, Jie J; Tripathi, Piyush P; McMichael, Joshua F JF; Johnson, Kimberly J KJ; Kandoth, Cyriac C; Welch, John J; Ma, Cynthia C; Wendl, Michael C MC; Payne, Samuel H SH; Fenyö, David D; Townsend, Reid R RR; Dipersio, John F JF; Chen, Feng F; Ding, Li L
Comprehensive molecular screening by next generation sequencing reveals a distinctive mutational profile of KIT/PDGFRA genes and novel genomic alterations: results from a 20-year cohort of patients with GIST from north-western Greece.
Esmo Open
Mavroeidis, Leonidas L; Metaxa-Mariatou, Vassiliki V; Papoudou-Bai, Alexandra A; Lampraki, Angeliki Maria AM; Kostadima, Lida L; Tsinokou, Ilias I; Zarkavelis, George G; Papadaki, Alexandra A; Petrakis, Dimitrios D; Gκoura, Stefania S; Kampletsas, Eleftherios E; Nasioulas, George G; Batistatou, Anna A; Pentheroudakis, George G
Publication Date: 2018
Variant appearance in text: PDGFRA: 1682T>A; V561D
Integrated Molecular Characterization of Gastrointestinal Stromal Tumors (GIST) Harboring the Rare D842V Mutation in PDGFRA Gene.
International Journal Of Molecular Sciences
Indio, Valentina V; Astolfi, Annalisa A; Tarantino, Giuseppe G; Urbini, Milena M; Patterson, Janice J; Nannini, Margherita M; Saponara, Maristella M; Gatto, Lidia L; Santini, Donatella D; do Valle, Italo F IF; Castellani, Gastone G; Remondini, Daniel D; Fiorentino, Michelangelo M; von Mehren, Margaret M; Brandi, Giovanni G; Biasco, Guido G; Heinrich, Michael C MC; Pantaleo, Maria Aabbondanza MA