134
Views
0
CrossRef citations to date
0
Altmetric
Research Article

BRCA2 Promoter Hypermethylation as a Biomarker for the Leukemic Transformation of Myeloproliferative Neoplasms

, , , , , & ORCID Icon show all
Pages 391-403 | Received 15 Jan 2022, Accepted 10 Feb 2022, Published online: 09 Mar 2022

References

  • Abdulkarim K , GirodonF , JohanssonPet al. AML transformation in 56 patients with Ph- MPD in two well defined populations. Eur. J. Haematol.82(2), 106–111 (2009).
  • Tam CS , NussenzveigRM , PopatUet al. The natural history and treatment outcome of blast phase BCR-ABL- myeloproliferative neoplasms. Blood112(5), 1628–1637 (2008).
  • Tefferi A , RumiE , FinazziGet al. Survival and prognosis among 1545 patients with contemporary polycythemia vera: an international study. Leukemia27(9), 1874–1881 (2013).
  • Vardiman JW , ThieleJ , ArberDAet al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood114(5), 937–951 (2009).
  • Yogarajah M , TefferiA. Leukemic transformation in myeloproliferative neoplasms: a literature review on risk, characteristics, and outcome. Mayo Clin. Proc.92(7), 1118–1128 (2017).
  • Kennedy JA , AtenafuEG , MessnerHAet al. Treatment outcomes following leukemic transformation in Philadelphia-negative myeloproliferative neoplasms. Blood121(14), 2725–2733 (2013).
  • Abdel-Wahab O , ManshouriT , PatelJet al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res.70(2), 447–452 (2010).
  • Zhang SJ , RampalR , ManshouriTet al. Genetic analysis of patients with leukemic transformation of myeloproliferative neoplasms shows recurrent SRSF2 mutations that are associated with adverse outcome. Blood119(19), 4480–4485 (2012).
  • Tefferi A , LashoTL , GuglielmelliPet al. Targeted deep sequencing in polycythemia vera and essential thrombocythemia. Blood Adv.1(1), 21–30 (2016).
  • Tefferi A , LashoTL , FinkeCMet al. Targeted deep sequencing in primary myelofibrosis. Blood Adv.1(2), 105–111 (2016).
  • Miles LA , BowmanRL , MerlinskyTRet al. Single-cell mutation analysis of clonal evolution in myeloid malignancies. Nature587(7834), 477–482 (2020).
  • Chim CS , KwongYL , LieAKet al. Long-term outcome of 231 patients with essential thrombocythemia: prognostic factors for thrombosis, bleeding, myelofibrosis, and leukemia. Arch. Intern. Med.165(22), 2651–2658 (2005).
  • Vannucchi AM , LashoTL , GuglielmelliPet al. Mutations and prognosis in primary myelofibrosis. Leukemia27(9), 1861–1869 (2013).
  • Jones AV , KreilS , ZoiKet al. Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood106(6), 2162–2168 (2005).
  • Pikman Y , LeeBH , MercherTet al. MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. PLoS Med.3(7), e270 (2006).
  • Klampfl T , GisslingerH , HarutyunyanASet al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N. Engl. J. Med.369(25), 2379–2390 (2013).
  • Bullinger L , DohnerK , DohnerH. Genomics of acute myeloid leukemia diagnosis and pathways. J. Clin. Oncol.35(9), 934–946 (2017).
  • Pratz KW , KohBD , PatelAGet al. Poly (ADP-ribose) polymerase inhibitor hypersensitivity in aggressive myeloproliferative neoplasms. Clin. Cancer Res.22(15), 3894–3902 (2016).
  • Elbracht M , MeyerR , KricheldorfKet al. Germline variants in DNA repair genes, including BRCA1/2, may cause familial myeloproliferative neoplasms. Blood Adv.5(17), 3373–3376 (2021).
  • Perez C , PascualM , Martin-SuberoJIet al. Aberrant DNA methylation profile of chronic and transformed classic Philadelphia-negative myeloproliferative neoplasms. Haematologica98(9), 1414–1420 (2013).
  • Lange SS , TakataK , WoodRD. DNA polymerases and cancer. Nat. Rev. Cancer11(2), 96–110 (2011).
  • Knijnenburg TA , WangL , ZimmermannMTet al. Genomic and molecular landscape of DNA damage repair deficiency across The Cancer Genome Atlas. Cell Rep.23(1), 239–254 e236 (2018).
  • Fortin JP , TricheTJJr , HansenKD. Preprocessing, normalization and integration of the Illumina HumanMethylationEPIC array withMiNiFi. Bioinformatics33(4), 558–560 (2017).
  • Richter-Pechanska P , KunzJB , BornhauserBet al. PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia. EMBO Mol. Med.10(12), e9443 (2018).
  • Leung KK , NguyenA , ShiTet al. Multiomics of azacitidine-treated AML cells reveals variable and convergent targets that remodel the cell-surface proteome. Proc. Natl Acad. Sci. USA116(2), 695–700 (2019).
  • Arber DA , OraziA , HasserjianRet al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood127(20), 2391–2405 (2016).
  • Bosviel R , MichardE , LavediauxG , KwiatkowskiF , BignonYJ , Bernard-GallonDJ. Peripheral blood DNA methylation detected in the BRCA1 or BRCA2 promoter for sporadic ovarian cancer patients and controls. Clin. Chim. Acta412(15–16), 1472–1475 (2011).
  • Li LC , DahiyaR. MethPrimer: designing primers for methylation PCRs. Bioinformatics18(11), 1427–1431 (2002).
  • Pandey RV , PulvererW , KallmeyerRet al. MSP-HTPrimer: a high-throughput primer design tool to improve assay design for DNA methylation analysis in epigenetics. Clin. Epigenetics8, 101 (2016).
  • Karczewski KJ , FrancioliLC , TiaoGet al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature581(7809), 434–443 (2020).
  • Lek M , KarczewskiKJ , MinikelEVet al. Analysis of protein-coding genetic variation in 60,706 humans. Nature536(7616), 285–291 (2016).
  • Genomes Project C , AutonA , BrooksLDet al. A global reference for human genetic variation. Nature526(7571), 68–74 (2015).
  • Guglielmelli P , LashoTL , RotunnoGet al. MIPSS70: mutation-enhanced international prognostic score system for transplantation-age patients with primary myelofibrosis. J. Clin. Oncol.36(4), 310–318 (2018).
  • Tefferi A , GuglielmelliP , LashoTLet al. Mutation-enhanced international prognostic systems for essential thrombocythaemia and polycythaemia vera. Br. J. Haematol.189(2), 291–302 (2020).
  • Rosenthal R , McGranahanN , HerreroJ , TaylorBS , SwantonC. DeconstructSigs: delineating mutational processes in single tumors distinguishes DNA repair deficiencies and patterns of carcinoma evolution. Genome Biol.17, 31 (2016).
  • Alexandrov LB , JonesPH , WedgeDCet al. Clock-like mutational processes in human somatic cells. Nat. Genet.47(12), 1402–1407 (2015).
  • Maura F , DegasperiA , NadeuFet al. A practical guide for mutational signature analysis in hematological malignancies. Nat. Commun.10(1), 2969 (2019).
  • Green A , BeerP. Somatic mutations of IDH1 and IDH2 in the leukemic transformation of myeloproliferative neoplasms. N. Engl. J. Med.362(4), 369–370 (2010).
  • Rampal R , AhnJ , Abdel-WahabOet al. Genomic and functional analysis of leukemic transformation of myeloproliferative neoplasms. Proc. Natl Acad. Sci. USA111(50), e5401–e5410 (2014).
  • Dupriez B , MorelP , DemoryJLet al. Prognostic factors in agnogenic myeloid metaplasia: a report on 195 cases with a new scoring system. Blood88(3), 1013–1018 (1996).
  • Vaidya R , CaramazzaD , BegnaKHet al. Monosomal karyotype in primary myelofibrosis is detrimental to both overall and leukemia-free survival. Blood117(21), 5612–5615 (2011).
  • Tam CS , KantarjianH , CortesJet al. Dynamic model for predicting death within 12 months in patients with primary or post-polycythemia vera/essential thrombocythemia myelofibrosis. J. Clin. Oncol.27(33), 5587–5593 (2009).
  • Mylonas E , YoshidaK , FrickMet al. Single-cell analysis based dissection of clonality in myelofibrosis. Nat. Commun.11(1), 73 (2020).
  • Van Egeren D , EscabiJ , NguyenMet al. Reconstructing the lineage histories and differentiation trajectories of individual cancer cells in myeloproliferative neoplasms. Cell Stem Cell28(3), 514–523 e519 (2021).
  • Mesa RA , LiCY , KetterlingRP , SchroederGS , KnudsonRA , TefferiA. Leukemic transformation in myelofibrosis with myeloid metaplasia: a single-institution experience with 91 cases. Blood105(3), 973–977 (2005).
  • Badar T , KantarjianHM , RavandiFet al. Therapeutic benefit of decitabine, a hypomethylating agent, in patients with high-risk primary myelofibrosis and myeloproliferative neoplasm in accelerated or blastic/acute myeloid leukemia phase. Leuk. Res.39(9), 950–956 (2015).
  • Mateo J , LordCJ , SerraVet al. A decade of clinical development of PARP inhibitors in perspective. Ann. Oncol.30(9), 1437–1447 (2019).
  • Nuhn P , DeBono JS , FizaziKet al. Update on systemic prostate cancer therapies: management of metastatic castration-resistant prostate cancer in the era of precision oncology. Eur. Urol.75(1), 88–99 (2019).
  • Golan T , HammelP , ReniMet al. Maintenance olaparib for germline BRCA-mutated metastatic pancreatic cancer. N. Engl. J. Med.381(4), 317–327 (2019).

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.