Digital PCR-based GRHL2 methylation testing in acute myeloid leukemia: diagnosis, prognosis and monitoring

References

• Khwaja A , Bjorkholm M , Gale RE et al. Acute myeloid leukaemia. Nat. Rev. Dis. Primers 2, 16010 (2016).
   PubMed Web of Science ®Google Scholar
• Cornelissen JJ , Gratwohl A , Schlenk RF et al. The European LeukemiaNet AML Working Party consensus statement on allogeneic HSCT for patients with AML in remission: an integrated-risk adapted approach. Nat. Rev. Clin. Oncol. 9(10), 579–590 (2012).
   PubMed Web of Science ®Google Scholar
• Döhner H , Estey EH , Amadori S et al. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood 115(3), 453–474 (2010).
   PubMed Web of Science ®Google Scholar
• Döhner H , Weisdorf DJ , Bloomfield CD . Acute myeloid leukemia. N. Engl. J. Med. 373(12), 1136–1152 (2015).
   PubMed Web of Science ®Google Scholar
• Estey EH . Acute myeloid leukemia: 2012 update on diagnosis, risk stratification, and management. Am. J. Hematol. 87(1), 89–99 (2012).
   PubMed Web of Science ®Google Scholar
• Della Starza I , Chiaretti S , De Propris MS et al. Minimal residual disease in acute lymphoblastic leukemia: technical and clinical advances. Front. Oncol. 9, 726 (2019).
   PubMed Web of Science ®Google Scholar
• Heuser M , Freeman SD , Ossenkoppele GJ et al. 2021 Update on MRD in acute myeloid leukemia: a consensus document from the European LeukemiaNet MRD Working Party. Blood 138(26), 2753–2767 (2021).
   PubMed Web of Science ®Google Scholar
• Ravandi F , Walter RB , Freeman SD . Evaluating measurable residual disease in acute myeloid leukemia. Blood Adv. 2(11), 1356–1366 (2018).
   PubMed Web of Science ®Google Scholar
• Bewersdorf JP , Shallis RM , Boddu PC et al. The minimal that kills: why defining and targeting measurable residual disease is the ‘sine qua non’ for further progress in management of acute myeloid leukemia. Blood Rev. 43, 100650 (2020).
   PubMed Web of Science ®Google Scholar
• Beerman I , Rossi DJ . Epigenetic regulation of hematopoietic stem cell aging. Exp. Cell Res. 329(2), 192–199 (2014).
   PubMed Web of Science ®Google Scholar
• Giacopelli B , Wang M , Cleary A et al. DNA methylation epitypes highlight underlying developmental and disease pathways in acute myeloid leukemia. Genome Res. 31(5), 747–761 (2021).
   PubMed Web of Science ®Google Scholar
• Cardona-Echeverry A , Prada-Arismendy J . Deciphering the role of Wnt signaling in acute myeloid leukemia prognosis: how alterations in DNA methylation come into play in patients’ prognosis. J. Cancer Res. Clin. Oncol. 146(12), 3097–3109 (2020).
   PubMed Web of Science ®Google Scholar
• Romanova EI , Zubritskiy AV , Lioznova AV et al. RUNX1/CEBPA mutation in acute myeloid leukemia promotes hypermethylation and indicates for demethylation therapy. Int. J. Mol. Sci. 23(19), 11413 (2022).
   PubMed Web of Science ®Google Scholar
• Luskin MR , Gimotty PA , Smith C et al. A clinical measure of DNA methylation predicts outcome in de novo acute myeloid leukemia. JCI Insight 1(9), e87323 (2016).
   PubMed Web of Science ®Google Scholar
• Cieply B , Riley PT , Pifer PM et al. Suppression of the epithelial–mesenchymal transition by grainyhead-like-2. Cancer Res. 72(9), 2440–2453 (2012).
   PubMed Web of Science ®Google Scholar
• Xiang J , Fu X , Ran W et al. Expression and role of grainyhead-like 2 in gastric cancer. Med. Oncol. 30(4), 714 (2013).
   PubMed Web of Science ®Google Scholar
• Quan Y , Xu M , Cui P , Ye M , Zhuang B , Min Z . Grainyhead-like 2 promotes tumor growth and is associated with poor prognosis in colorectal cancer. J. Cancer 6(4), 342–350 (2015).
   PubMed Web of Science ®Google Scholar
• Sun X , Chen D , Jin Z et al. Genome-wide methylation and expression profiling identify methylation-associated genes in colorectal cancer. Epigenomics 12(1), 19–36 (2020).
   PubMed Web of Science ®Google Scholar
• Xiang X , Deng Z , Zhuang X et al. GRHL2 determines the epithelial phenotype of breast cancers and promotes tumor progression. PLOS ONE 7(12), e50781 (2012).
   PubMed Web of Science ®Google Scholar
• Werner S , Frey S , Riethdorf S et al. Dual roles of the transcription factor grainyhead-like 2 (GRHL2) in breast cancer. J. Biol. Chem. 288(32), 22993–23008 (2013).
   PubMed Web of Science ®Google Scholar
• Torres-Reyes LA , Alvarado-Ruiz L , Piña-Sánchez P et al. Expression of transcription factor grainyhead-like 2 is diminished in cervical cancer. Int. J. Clin. Exp. Pathol. 7(11), 7409–7418 (2014).
   PubMed Web of Science ®Google Scholar
• Hao Y , Li Y , Wu J et al. Hypermethylation of the GRHL2 promoter region is associated with ovarian endometriosis. Reproduction 163(6), 379–386 (2022).
   PubMed Web of Science ®Google Scholar
• Chung VY , Tan TZ , Ye J et al. The role of GRHL2 and epigenetic remodeling in epithelial–mesenchymal plasticity in ovarian cancer cells. Commun. Biol. 2, 272 (2019).
   PubMed Web of Science ®Google Scholar
• Faddaoui A , Sheta R , Bachvarova M et al. Suppression of the grainyhead transcription factor 2 gene (GRHL2) inhibits the proliferation, migration, invasion and mediates cell cycle arrest of ovarian cancer cells. Cell Cycle 16(7), 693–706 (2017).
   PubMed Web of Science ®Google Scholar
• Cabezón M , Malinverni R , Bargay J et al. Different methylation signatures at diagnosis in patients with high-risk myelodysplastic syndromes and secondary acute myeloid leukemia predict azacitidine response and longer survival. Clin. Epigenetics 13(1), 9 (2021).
   PubMed Web of Science ®Google Scholar
• Hindson CM , Chevillet JR , Briggs HA et al. Absolute quantification by droplet digital PCR versus analog real-time PCR. Nat. Methods 10(10), 1003–1005 (2013).
   PubMed Web of Science ®Google Scholar
• Taylor SC , Laperriere G , Germain H . Droplet digital PCR versus qPCR for gene expression analysis with low abundant targets: from variable nonsense to publication quality data. Sci. Rep. 7(1), 2409 (2017).
   PubMed Web of Science ®Google Scholar
• Pollyea DA , Altman JK , Assi R et al. Acute Myeloid Leukemia, Version 3.2023, NCCN Clinical Practice Guidelines in Oncology. J. Natl Compr. Canc. Netw. 21(5), 503–513 (2023).
   PubMedGoogle Scholar
• Wan JCM , Massie C , Garcia-Corbacho J et al. Liquid biopsies come of age: towards implementation of circulating tumour DNA. Nat. Rev. Cancer 17(4), 223–238 (2017).
   PubMed Web of Science ®Google Scholar
• Zhang Y , Jiang Q , Kong X et al. Methylation status of the promoter region of the human frizzled 9 gene in acute myeloid leukemia. Mol. Med. Rep. 14(2), 1339–1344 (2016).
   PubMed Web of Science ®Google Scholar
• Florean C , Schnekenburger M , Grandjenette C , Dicato M , Diederich M . Epigenomics of leukemia: from mechanisms to therapeutic applications. Epigenomics 3(5), 581–609 (2011).
   PubMed Web of Science ®Google Scholar
• Foran JM . New prognostic markers in acute myeloid leukemia: perspective from the clinic. Hematology Am. Soc. Hematol. Educ. Program 2010, 47–55 (2010).
   PubMed Web of Science ®Google Scholar
• Estey EH . Acute myeloid leukemia: 2014 update on risk-stratification and management. Am. J. Hematol. 89(11), 1063–1081 (2014).
   PubMed Web of Science ®Google Scholar
• Cieply B , Farris J , Denvir J , Ford HL , Frisch SM . Epithelial–mesenchymal transition and tumor suppression are controlled by a reciprocal feedback loop between ZEB1 and Grainyhead-like-2. Cancer Res. 73(20), 6299–6309 (2013).
   PubMed Web of Science ®Google Scholar
• Kojic M , Maybury MK , Waddell N et al. Efficient detection and monitoring of pediatric brain malignancies with liquid biopsy based on patient-specific somatic mutation screening. Neuro Oncol. 25(8), 1507–1517 (2023).
   PubMed Web of Science ®Google Scholar
• Shoda K , Ichikawa D , Fujita Y et al. Monitoring the HER2 copy number status in circulating tumor DNA by droplet digital PCR in patients with gastric cancer. Gastric Cancer 20(1), 126–135 (2017).
   PubMed Web of Science ®Google Scholar
• Yamamoto Y , Uemura M , Fujita M et al. Clinical significance of the mutational landscape and fragmentation of circulating tumor DNA in renal cell carcinoma. Cancer Sci. 110(2), 617–628 (2019).
   PubMed Web of Science ®Google Scholar
• Le AV , Szaumkessel M , Tan TZ , Thiery JP , Thompson EW , Dobrovic A . DNA methylation profiling of breast cancer cell lines along the epithelial mesenchymal spectrum – implications for the choice of circulating tumour DNA methylation markers. Int. J. Mol. Sci. 19(9), 2553 (2018).
   PubMed Web of Science ®Google Scholar
• Kanwal R , Gupta S . Epigenetic modifications in cancer. Clin. Genet. 81(4), 303–311 (2012).
   PubMed Web of Science ®Google Scholar
• Li M , Ye J , Xia Y et al. METTL3 mediates chemoresistance by enhancing AML homing and engraftment via ITGA4. Leukemia 36(11), 2586–2595 (2022).
   PubMed Web of Science ®Google Scholar
• Tao YF , Fang F , Hu SY et al. Hypermethylation of the GATA binding protein 4 (GATA4) promoter in Chinese pediatric acute myeloid leukemia. BMC Cancer 15, 756 (2015).
   PubMed Web of Science ®Google Scholar
• Kroeger H , Jelinek J , Estécio MR et al. Aberrant CpG island methylation in acute myeloid leukemia is accentuated at relapse. Blood 112(4), 1366–1373 (2008).
   PubMed Web of Science ®Google Scholar
• Pantelaiou-Prokaki G , Mieczkowska I , Schmidt GE et al. HDAC8 suppresses the epithelial phenotype and promotes EMT in chemotherapy-treated basal-like breast cancer. Clin. Epigenetics 14(1), 7 (2022).
   PubMed Web of Science ®Google Scholar
• Li Q , Huang CC , Huang S et al. 5-hydroxymethylcytosine sequencing in plasma cell-free DNA identifies unique epigenomic features in prostate cancer patients resistant to androgen deprivation therapy. medRxiv doi:10.1101/2023.10.13.23296758 (2023) ( Preprint).
   Google Scholar
• Marcolin R , Guolo F , Minetto P et al. A simple cytofluorimetric score may optimize testing for biallelic CEBPA mutations in patients with acute myeloid leukemia. Leuk. Res. 86, 106223 (2019).
   PubMed Web of Science ®Google Scholar