TET2 truncating mutations predict a worse outcome in blastic plasmacytoid dendritic cell neoplasm.
Blood Advances
Beird, Hannah C HC; Yin, C Cameron CC; Khoury, Joseph D JD; Pierce, Sherry R SR; Abbas, Hussein A HA; Zhao, Li L; Skwarska, Anna A; Qazilbash, Muzaffar H MH; Konopleva, Marina Y MY; Futreal, Andrew A; Pemmaraju, Naveen N
ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.
Leukemia
Schönfeld, Lioba L; Rinke, Jenny J; Hinze, Anna A; Nagel, Saskia N SN; Schäfer, Vivien V; Schenk, Thomas T; Fabisch, Christian C; Brümmendorf, Tim H TH; Burchert, Andreas A; le Coutre, Philipp P; Krause, Stefan W SW; Saussele, Susanne S; Safizadeh, Fatemeh F; Pfirrmann, Markus M; Hochhaus, Andreas A; Ernst, Thomas T
Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.
Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Therapy-related clonal cytopenia as a precursor to therapy-related myeloid neoplasms.
Blood Cancer Journal
Shah, Mithun Vinod MV; Mangaonkar, Abhishek A AA; Begna, Kebede H KH; Alkhateeb, Hassan B HB; Greipp, Patricia P; Nanaa, Ahmad A; Elliott, Michelle A MA; Hogan, William J WJ; Litzow, Mark R MR; McCullough, Kristen K; Tefferi, Ayalew A; Gangat, Naseema N; Patnaik, Mrinal M MM; Al-Kali, Aref A; He, Rong R; Chen, Dong D
Publication Date: 2022-07-08
Variant appearance in text: TET2: 4393C>T; Arg1465*
Outcomes and molecular profile of oligomonocytic CMML support its consideration as the first stage in the CMML continuum.
Blood Advances
Calvo, Xavier X; Roman-Bravo, David D; Garcia-Gisbert, Nieves N; Rodriguez-Sevilla, Juan Jose JJ; Garcia-Avila, Sara S; Florensa, Lourdes L; Gibert, Joan J; Fernández-Rodríguez, Concepción C; Salido, Marta M; Puiggros, Anna A; Espinet, Blanca B; Colomo, Luis L; Bellosillo, Beatriz B; Ferrer, Ana A; Arenillas, Leonor L
Publication Date: 2022-07-12
Variant appearance in text: TET2: 4393C>T; Arg1465Ter
Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.
Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06
Variant appearance in text: TET2: 4393C>T; Arg1465Ter
Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.
Immunity & Ageing : I & A
Uddin, Md Mesbah MM; Zhou, Ying Y; Bick, Alexander G AG; Burugula, Bala Bharathi BB; Jaiswal, Siddhartha S; Desai, Pinkal P; Honigberg, Michael C MC; Love, Shelly-Ann SA; Barac, Ana A; Hayden, Kathleen M KM; Manson, JoAnn E JE; Whitsel, Eric A EA; Kooperberg, Charles C; Natarajan, Pradeep P; Reiner, Alexander P AP; Kitzman, Jacob O JO
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Association of clonal hematopoiesis with chronic obstructive pulmonary disease.
Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.
Science Advances
Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Dynamics of mutations in patients with essential thrombocythemia treated with imetelstat.
Haematologica
Oppliger Leibundgut, Elisabeth E; Haubitz, Monika M; Burington, Bart B; Ottmann, Oliver G OG; Spitzer, Gary G; Odenike, Olatoyosi O; McDevitt, Michael A MA; Röth, Alexander A; Snyder, David S DS; Baerlocher, Gabriela M GM
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12
Variant appearance in text: TET2: 4393C>T; Arg1465Ter
The modular network structure of the mutational landscape of Acute Myeloid Leukemia.
Plos One
Ibáñez, Mariam M; Carbonell-Caballero, José J; Such, Esperanza E; García-Alonso, Luz L; Liquori, Alessandro A; López-Pavía, María M; Llop, Marta M; Alonso, Carmen C; Barragán, Eva E; Gómez-Seguí, Inés I; Neef, Alexander A; Hervás, David D; Montesinos, Pau P; Sanz, Guillermo G; Sanz, Miguel Angel MA; Dopazo, Joaquín J; Cervera, José J
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: TET2: 4393C>T; Arg1465*
Overlap at the molecular and immunohistochemical levels between angioimmunoblastic T-cell lymphoma and a subgroup of peripheral T-cell lymphomas without specific morphological features.
Oncotarget
Manso, Rebeca R; González-Rincón, Julia J; Rodríguez-Justo, Manuel M; Roncador, Giovanna G; Gómez, Sagrario S; Sánchez-Beato, Margarita M; Piris, Miguel A MA; Rodríguez-Pinilla, Socorro M SM
Publication Date: 2018-03-23
Variant appearance in text: TET2: 4393C>T; Arg1465Ter
CBL family E3 ubiquitin ligases control JAK2 ubiquitination and stability in hematopoietic stem cells and myeloid malignancies.
Genes & Development
Lv, Kaosheng K; Jiang, Jing J; Donaghy, Ryan R; Riling, Christopher R CR; Cheng, Ying Y; Chandra, Vemika V; Rozenova, Krasimira K; An, Wei W; Mohapatra, Bhopal C BC; Goetz, Benjamin T BT; Pillai, Vinodh V; Han, Xu X; Todd, Emily A EA; Jeschke, Grace R GR; Langdon, Wallace Y WY; Kumar, Suresh S; Hexner, Elizabeth O EO; Band, Hamid H; Tong, Wei W
Bone marrow fibrosis in myelodysplastic syndromes: a prospective evaluation including mutational analysis.
Oncotarget
Ramos, Fernando F; Robledo, Cristina C; Izquierdo-García, Francisco Miguel FM; Suárez-Vilela, Dimas D; Benito, Rocío R; Fuertes, Marta M; Insunza, Andrés A; Barragán, Eva E; Del Rey, Mónica M; García-Ruiz de Morales, José María JM; Tormo, Mar M; Salido, Eduardo E; Zamora, Lurdes L; Pedro, Carmen C; Sánchez-Del-Real, Javier J; Díez-Campelo, María M; Del Cañizo, Consuelo C; Sanz, Guillermo F GF; Hernández-Rivas, Jesús María JM; ,
Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.
Leukemia
Pellagatti, A A; Roy, S S; Di Genua, C C; Burns, A A; McGraw, K K; Valletta, S S; Larrayoz, M J MJ; Fernandez-Mercado, M M; Mason, J J; Killick, S S; Mecucci, C C; Calasanz, M J MJ; List, A A; Schuh, A A; Boultwood, J J
Submicroscopic deletion of 5q involving tumor suppressor genes (CTNNA1, HSPA9) and copy neutral loss of heterozygosity associated with TET2 and EZH2 mutations in a case of MDS with normal chromosome and FISH results.
Molecular Cytogenetics
Hemmat, Morteza M; Chen, Weina W; Anguiano, Arturo A; Naggar, Mohammed El ME; Racke, Frederick K FK; Jones, Dan D; Wang, Yongbao Y; Strom, Charles M CM; Chang, Karl K; Boyar, Fatih Z FZ
Efficacy of intermittent combined RAF and MEK inhibition in a patient with concurrent BRAF- and NRAS-mutant malignancies.
Cancer Discovery
Abdel-Wahab, Omar O; Klimek, Virginia M VM; Gaskell, Alisa A AA; Viale, Agnes A; Cheng, Donavan D; Kim, Eunhee E; Rampal, Raajit R; Bluth, Mark M; Harding, James J JJ; Callahan, Margaret K MK; Merghoub, Taha T; Berger, Michael F MF; Solit, David B DB; Rosen, Neal N; Levine, Ross L RL; Chapman, Paul B PB
Acute promyelocytic leukemias share cooperative mutations with other myeloid-leukemia subgroups.
Blood Cancer Journal
Riva, L L; Ronchini, C C; Bodini, M M; Lo-Coco, F F; Lavorgna, S S; Ottone, T T; Martinelli, G G; Iacobucci, I I; Tarella, C C; Cignetti, A A; Volorio, S S; Bernard, L L; Russo, A A; Melloni, G E M GE; Luzi, L L; Alcalay, M M; Dellino, G I GI; Pelicci, P G PG
TET2 mutations are associated with specific 5-methylcytosine and 5-hydroxymethylcytosine profiles in patients with chronic myelomonocytic leukemia.
Plos One
Pérez, Cristina C; Martínez-Calle, Nicolas N; Martín-Subero, José Ignacio JI; Segura, Victor V; Delabesse, Eric E; Fernandez-Mercado, Marta M; Garate, Leire L; Alvarez, Sara S; Rifon, José J; Varea, Sara S; Boultwood, Jacqueline J; Wainscoat, James S JS; Cruz Cigudosa, Juan J; Calasanz, María José MJ; Cross, Nicholas C P NC; Prósper, Felipe F; Agirre, Xabier X
CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia.
Blood
Makishima, Hideki H; Jankowska, Anna M AM; McDevitt, Michael A MA; O'Keefe, Christine C; Dujardin, Simon S; Cazzolli, Heather H; Przychodzen, Bartlomiej B; Prince, Courtney C; Nicoll, John J; Siddaiah, Harish H; Shaik, Mohammed M; Szpurka, Hadrian H; Hsi, Eric E; Advani, Anjali A; Paquette, Ronald R; Maciejewski, Jaroslaw P JP
TET2 mutations and their clinical correlates in polycythemia vera, essential thrombocythemia and myelofibrosis.
Leukemia
Tefferi, A A; Pardanani, A A; Lim, K-H KH; Abdel-Wahab, O O; Lasho, T L TL; Patel, J J; Gangat, N N; Finke, C M CM; Schwager, S S; Mullally, A A; Li, C-Y CY; Hanson, C A CA; Mesa, R R; Bernard, O O; Delhommeau, F F; Vainchenker, W W; Gilliland, D G DG; Levine, R L RL