Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.
Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
DICER1 RNase IIIb domain mutations trigger widespread miRNA dysregulation and MAPK activation in pediatric thyroid cancer.
Frontiers In Endocrinology
Ricarte-Filho, Julio C JC; Casado-Medrano, Victoria V; Reichenberger, Erin E; Spangler, Zachary Z; Scheerer, Michele M; Isaza, Amber A; Baran, Julia J; Patel, Tasleema T; MacFarland, Suzanne P SP; Brodeur, Garrett M GM; Stewart, Douglas R DR; Baloch, Zubair Z; Bauer, Andrew J AJ; Wasserman, Jonathan D JD; Franco, Aime T AT
Evaluation of the Molecular Landscape of Pediatric Thyroid Nodules and Use of a Multigene Genomic Classifier in Children.
Jama Oncology
Gallant, Jean-Nicolas JN; Chen, Sheau-Chiann SC; Ortega, Carlos A CA; Rohde, Sarah L SL; Belcher, Ryan H RH; Netterville, James L JL; Baregamian, Naira N; Wang, Huiying H; Liang, Jiancong J; Ye, Fei F; Nikiforov, Yuri E YE; Nikiforova, Marina N MN; Weiss, Vivian L VL
Publication Date: 2022-09-01
Variant appearance in text: DICER1: 5439G>T; E1813D
Germline Sequencing Improves Tumor-Only Sequencing Interpretation in a Precision Genomic Study of Patients With Pediatric Solid Tumor.
Jco Precision Oncology
Schienda, Jaclyn J; Church, Alanna J AJ; Corson, Laura B LB; Decker, Brennan B; Clinton, Catherine M CM; Manning, Danielle K DK; Imamovic-Tuco, Alma A; Reidy, Deirdre D; Strand, Gianna R GR; Applebaum, Mark A MA; Bagatell, Rochelle R; DuBois, Steven G SG; Glade-Bender, Julia L JL; Kang, Wenjun W; Kim, AeRang A; Laetsch, Theodore W TW; Macy, Margaret E ME; Maese, Luke L; Pinto, Navin N; Sabnis, Amit J AJ; Schiffman, Joshua D JD; Colace, Susan I SI; Volchenboum, Samuel L SL; Weiser, Daniel A DA; Nowak, Jonathan A JA; Lindeman, Neal I NI; Janeway, Katherine A KA; Crompton, Brian D BD; Kamihara, Junne J
Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature.
Cancers
van Peer, Sophie E SE; Pleijte, Corine J H CJH; de Krijger, Ronald R RR; Jongmans, Marjolijn C J MCJ; Kuiper, Roland P RP; Lilien, Marc R MR; van Grotel, Martine M; Graf, Norbert N; van den Heuvel-Eibrink, Marry M MM; Hol, Janna A JA
Publication Date: 2021-02-27
Variant appearance in text: DICER1: 5439G>T; Glu1813Asp
Distinct DICER1 Hotspot Mutations Identify Bilateral Tumors as Separate Events.
Jco Precision Oncology
Chen, Kenneth S KS; Stuart, Sarai H SH; Stroup, Emily K EK; Shukla, Abhay S AS; Wang, Jason J; Rajaram, Veena V; Vujanic, Gordan M GM; Slone, Tamra T; Rakheja, Dinesh D; Amatruda, James F JF
Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.
Acta Neuropathologica
Lee, Julieann C JC; Mazor, Tali T; Lao, Richard R; Wan, Eunice E; Diallo, Alpha B AB; Hill, Nicholas S NS; Thangaraj, Naina N; Wendelsdorf, Katherine K; Samuel, David D; Kline, Cassie N CN; Banerjee, Anuradha A; Auguste, Kurtis K; Raffel, Corey C; Gupta, Nalin N; Berger, Mitchel M; Raleigh, David R DR; Shai, Anny A; Phillips, Joanna J JJ; Bollen, Andrew W AW; Tihan, Tarik T; Perry, Arie A; Costello, Joseph J; Solomon, David A DA
Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: An illustrative case of DICER1 syndrome.
Gynecologic Oncology Reports
Cowan, Matthew M; Suntum, Tara T; Olivas, Andrea D AD; Perpich, Melody M; Applebaum, Mark A MA; Lastra, Ricardo R RR; Yamada, S Diane SD
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.
The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07
Variant appearance in text: DICER1: 5439G>T; E1813D
Three synchronous malignancies in a patient with DICER1 syndrome.
European Journal Of Cancer (Oxford, England : 1990)
Moke, Diana J DJ; Thomas, Stefanie M SM; Hiemenz, Matthew C MC; Nael, Ali A; Wang, Kasper K; Shillingford, Nick N; Biegel, Jaclyn A JA; Mascarenhas, Leo L
Publication Date: 2018-04
Variant appearance in text: DICER1: 5439G>T; Glu1813Asp
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
British Journal Of Cancer
de Kock, Leanne L; Rivera, Barbara B; Revil, Timothée T; Thorner, Paul P; Goudie, Catherine C; Bouron-Dal Soglio, Dorothée D; Choong, Catherine S CS; Priest, John R JR; van Diest, Paul J PJ; Tanboon, Jantima J; Wagner, Anja A; Ragoussis, Jiannis J; Choong, Peter Fm PF; Foulkes, William D WD
Publication Date: 2017-06-06
Variant appearance in text: DICER1: 5439G>T; E1813D
The many faces of Dicer: the complexity of the mechanisms regulating Dicer gene expression and enzyme activities.
Nucleic Acids Research
Kurzynska-Kokorniak, Anna A; Koralewska, Natalia N; Pokornowska, Maria M; Urbanowicz, Anna A; Tworak, Aleksander A; Mickiewicz, Agnieszka A; Figlerowicz, Marek M
DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.
Pathology Case Reviews
Schultz, Kris Ann KA; Yang, Jiandong J; Doros, Leslie L; Williams, Gretchen M GM; Harris, Anne A; Stewart, Douglas R DR; Messinger, Yoav Y; Field, Amanda A; Dehner, Louis P LP; Hill, D Ashley DA
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder.
Human Genetics
Stewart, Douglas R DR; Messinger, Yoav Y; Williams, Gretchen M GM; Yang, Jiandong J; Field, Amanda A; Schultz, Kris Ann P KA; Harney, Laura A LA; Doros, Leslie A LA; Dehner, Louis P LP; Hill, D Ashley DA
Publication Date: 2014-11
Variant appearance in text: DICER1: 5439G>T; Glu1813Asp
Exome sequencing of pleuropulmonary blastoma reveals frequent biallelic loss of TP53 and two hits in DICER1 resulting in retention of 5p-derived miRNA hairpin loop sequences.
Oncogene
Pugh, T J TJ; Yu, W W; Yang, J J; Field, A L AL; Ambrogio, L L; Carter, S L SL; Cibulskis, K K; Giannikopoulos, P P; Kiezun, A A; Kim, J J; McKenna, A A; Nickerson, E E; Getz, G G; Hoffher, S S; Messinger, Y H YH; Dehner, L P LP; Roberts, C W M CW; Rodriguez-Galindo, C C; Williams, G M GM; Rossi, C T CT; Meyerson, M M; Hill, D A DA
Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations.
Acta Neuropathologica
de Kock, Leanne L; Sabbaghian, Nelly N; Plourde, François F; Srivastava, Archana A; Weber, Evan E; Bouron-Dal Soglio, Dorothée D; Hamel, Nancy N; Choi, Joon Hyuk JH; Park, Sung-Hye SH; Deal, Cheri L CL; Kelsey, Megan M MM; Dishop, Megan K MK; Esbenshade, Adam A; Kuttesch, John F JF; Jacques, Thomas S TS; Perry, Arie A; Leichter, Heinz H; Maeder, Philippe P; Brundler, Marie-Anne MA; Warner, Justin J; Neal, James J; Zacharin, Margaret M; Korbonits, Márta M; Cole, Trevor T; Traunecker, Heidi H; McLean, Thomas W TW; Rotondo, Fabio F; Lepage, Pierre P; Albrecht, Steffen S; Horvath, Eva E; Kovacs, Kalman K; Priest, John R JR; Foulkes, William D WD
Publication Date: 2014-07
Variant appearance in text: DICER1: 5439G>T; Glu1813Asp
DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma.
Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Doros, Leslie A LA; Rossi, Christopher T CT; Yang, Jiandong J; Field, Amanda A; Williams, Gretchen M GM; Messinger, Yoav Y; Cajaiba, Mariana M MM; Perlman, Elizabeth J EJ; A Schultz, Kris K; Cathro, Helen P HP; Legallo, Robin D RD; LaFortune, Kristin A KA; Chikwava, Kudakwashe R KR; Faria, Paulo P; Geller, James I JI; Dome, Jeffrey S JS; Mullen, Elizabeth A EA; Gratias, Eric J EJ; Dehner, Louis P LP; Hill, D Ashley DA