Literature DB >> 34039392

TET2 and DNMT3A mutations and exceptional response to 4'-thio-2'-deoxycytidine in human solid tumor models.

Sherry X Yang1, Melinda Hollingshead2, Larry Rubinstein2, Dat Nguyen2, Angelo B A Larenjeira2, Robert J Kinders3, Michael Difilippantonio2, James H Doroshow2.   

Abstract

BACKGROUND: Challenges remain on the selection of patients who potentially respond to a class of drugs that target epigenetics for cancer treatment. This study aims to investigate TET2/DNMT3A mutations and antitumor activity of a novel epigenetic agent in multiple human cancer cell lines and animal models.
METHODS: Seventeen cancer cell lines and multiple xenograft models bearing representative human solid tumors were subjected to 4'-thio-2'-deoxycytidine (T-dCyd) or control treatment. Gene mutations in cell lines were examined by whole exome and/or Sanger sequencing. Specific gene expression was measured in cells and xenograft tumor samples by Western blotting and immunohistochemistry. TET2/DNMT3A mutation status in 47,571 human tumor samples was analyzed at cBioPortal for Cancer Genomics.
RESULTS: Cell survival was significantly inhibited by T-dCyd in breast BT549, lung NCI-H23, melanoma SKMEL5 and renal ACHN cancer lines harboring deleterious TET2 and nonsynonymous DNMT3A mutations compared to 13 lines without such mutation pattern (P = 0.007). The treatment upregulated p21 and induced cell cycle arrest in NCI-H23 cells, and dramatically inhibited their xenograft tumor growth versus wildtype models. T-dCyd administrations led to a significant p21 increase and near eradication of tumor cells in the double-mutant xenografts by histological evaluation. TET2/DNMT3A was co-mutated in human lung, breast, skin and kidney cancers and frequently in angioimmunoblastic and peripheral T cell lymphomas and several types of leukemia.
CONCLUSIONS: Cell and animal models with concurrent mutations in TET2 and DNMT3A were sensitive to T-dCyd treatment. The mutations were detectable in human solid tumors and frequently occur in some hematological malignancies.

Entities:  

Keywords:  4′-thio-2′-deoxycytidine (T-dCyd); DNMT3A and TET2 mutations; NCI-H23 cells; Whole exome sequencing; Xenograft tumors; p21

Year:  2021        PMID: 34039392     DOI: 10.1186/s13045-021-01091-5

Source DB:  PubMed          Journal:  J Hematol Oncol        ISSN: 1756-8722            Impact factor:   17.388


  28 in total

1.  Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.

Authors:  F Fuks; W A Burgers; N Godin; M Kasai; T Kouzarides
Journal:  EMBO J       Date:  2001-05-15       Impact factor: 11.598

2.  DNMT3A mutations and response to the hypomethylating agent decitabine in acute myeloid leukemia.

Authors:  K H Metzeler; A Walker; S Geyer; R Garzon; R B Klisovic; C D Bloomfield; W Blum; G Marcucci
Journal:  Leukemia       Date:  2011-11-29       Impact factor: 11.528

3.  Dnmt3a and Dnmt3b are transcriptional repressors that exhibit unique localization properties to heterochromatin.

Authors:  K E Bachman; M R Rountree; S B Baylin
Journal:  J Biol Chem       Date:  2001-06-26       Impact factor: 5.157

4.  DNMT3A mutations in acute myeloid leukemia.

Authors:  Timothy J Ley; Li Ding; Matthew J Walter; Michael D McLellan; Tamara Lamprecht; David E Larson; Cyriac Kandoth; Jacqueline E Payton; Jack Baty; John Welch; Christopher C Harris; Cheryl F Lichti; R Reid Townsend; Robert S Fulton; David J Dooling; Daniel C Koboldt; Heather Schmidt; Qunyuan Zhang; John R Osborne; Ling Lin; Michelle O'Laughlin; Joshua F McMichael; Kim D Delehaunty; Sean D McGrath; Lucinda A Fulton; Vincent J Magrini; Tammi L Vickery; Jasreet Hundal; Lisa L Cook; Joshua J Conyers; Gary W Swift; Jerry P Reed; Patricia A Alldredge; Todd Wylie; Jason Walker; Joelle Kalicki; Mark A Watson; Sharon Heath; William D Shannon; Nobish Varghese; Rakesh Nagarajan; Peter Westervelt; Michael H Tomasson; Daniel C Link; Timothy A Graubert; John F DiPersio; Elaine R Mardis; Richard K Wilson
Journal:  N Engl J Med       Date:  2010-11-10       Impact factor: 91.245

5.  Acquired mutations in TET2 are common in myelodysplastic syndromes.

Authors:  Saskia M C Langemeijer; Roland P Kuiper; Marieke Berends; Ruth Knops; Mariam G Aslanyan; Marion Massop; Ellen Stevens-Linders; Patricia van Hoogen; Ad Geurts van Kessel; Reinier A P Raymakers; Eveline J Kamping; Gregor E Verhoef; Estelle Verburgh; Anne Hagemeijer; Peter Vandenberghe; Theo de Witte; Bert A van der Reijden; Joop H Jansen
Journal:  Nat Genet       Date:  2009-05-31       Impact factor: 38.330

6.  Mutation in TET2 in myeloid cancers.

Authors:  François Delhommeau; Sabrina Dupont; Véronique Della Valle; Chloé James; Severine Trannoy; Aline Massé; Olivier Kosmider; Jean-Pierre Le Couedic; Fabienne Robert; Antonio Alberdi; Yann Lécluse; Isabelle Plo; François J Dreyfus; Christophe Marzac; Nicole Casadevall; Catherine Lacombe; Serge P Romana; Philippe Dessen; Jean Soulier; Franck Viguié; Michaela Fontenay; William Vainchenker; Olivier A Bernard
Journal:  N Engl J Med       Date:  2009-05-28       Impact factor: 91.245

Review 7.  TETonic shift: biological roles of TET proteins in DNA demethylation and transcription.

Authors:  William A Pastor; L Aravind; Anjana Rao
Journal:  Nat Rev Mol Cell Biol       Date:  2013-06       Impact factor: 94.444

8.  Loss of TET2 in hematopoietic cells leads to DNA hypermethylation of active enhancers and induction of leukemogenesis.

Authors:  Kasper D Rasmussen; Guangshuai Jia; Jens V Johansen; Marianne T Pedersen; Nicolas Rapin; Frederik O Bagger; Bo T Porse; Olivier A Bernard; Jesper Christensen; Kristian Helin
Journal:  Genes Dev       Date:  2015-04-17       Impact factor: 11.361

9.  Lack of association of IDH1, IDH2 and DNMT3A mutations with outcome in older patients with acute myeloid leukemia treated with hypomethylating agents.

Authors:  Courtney D DiNardo; Keyur P Patel; Guillermo Garcia-Manero; Rajyalakshmi Luthra; Sherry Pierce; Gautam Borthakur; Elias Jabbour; Tapan Kadia; Naveen Pemmaraju; Marina Konopleva; Stefan Faderl; Jorge Cortes; Hagop M Kantarjian; Farhad Ravandi
Journal:  Leuk Lymphoma       Date:  2014-02-04

Review 10.  DNMT3A and IDH mutations in acute myeloid leukemia and other myeloid malignancies: associations with prognosis and potential treatment strategies.

Authors:  A P Im; A R Sehgal; M P Carroll; B D Smith; A Tefferi; D E Johnson; M Boyiadzis
Journal:  Leukemia       Date:  2014-04-04       Impact factor: 12.883

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