Minimal residual disease testing to predict relapse following transplant for AML and high-grade myelodysplastic syndromes

References

• Swerdlow SH, Campo E, Harris NL et al. (Eds). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. IARC Press, Lyon, France (2008).
   Google Scholar
• Lugthart S, Figueroa ME, Bindels E et al. Aberrant DNA hypermethylation signature in acute myeloid leukemia directed by EVI1. Blood117, 234–241 (2011).
   PubMed Web of Science ®Google Scholar
• Mardis ER, Ding L, Dooling DJ et al. Recurring mutations found by sequencing an acute myeloid leukemia genome. N. Engl. J. Med.361, 1058–1066 (2009).
   PubMed Web of Science ®Google Scholar
• Figueroa ME, Lugthart S, Li Y et al. DNA methylation signatures identify biologically distinct subtypes in acute myeloid leukemia. Cancer Cell17, 13–27 (2010).
   PubMed Web of Science ®Google Scholar
• Valk PJ, Verhaak RG, Beijen, MA et al. Prognostically useful gene-expression profiles in acute myeloid leukemia. N. Engl. J. Med.350, 1617–1628 (2004).
   PubMed Web of Science ®Google Scholar
• Bejar R, Ebert BL. The genetic basis of myelodysplastic syndromes. Hematol. Oncol. Clin. North Am.24, 295–315 (2010).
   PubMed Web of Science ®Google Scholar
• Jädersten M, Hellström-Lindberg E. New clues to the molecular pathogenesis of myelodysplastic syndromes. Exp. Cell Res.316(8), 1390–1396 (2010).
   Google Scholar
• Haase D, Germing U, Schanz J et al. New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients. Blood110, 4385–4395 (2007).
   PubMed Web of Science ®Google Scholar
• Look AT. Molecular pathogenesis of MDS. Hematology Am. Soc. Hematol. Educ. Prog.156–160 (2005).
   Google Scholar
• Rocquain J, Carbuccia N, Trouplin V et al. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer10, 401 (2010).
   PubMed Web of Science ®Google Scholar
• Falini B, Mecucci C, Saglio G et al.NPM1 mutations and cytoplasmic nucleophosmin are mutually exclusive of recurrent genetic abnormalities: a comparative analysis of 2562 patients with acute myeloid leukemia. Haematologica93, 439–442 (2008).
   PubMedGoogle Scholar
• Kottaridis PD, Gale RE, Langabeer SE, Frew ME, Bowen DT, Linch DC. Studies of FLT3 mutations in paired presentation and relapse samples from patients with acute myeloid leukemia: implications for the role of FLT3 mutations in leukemogenesis, minimal residual disease detection, and possible therapy with FLT3 inhibitors. Blood100, 2393–2398 (2002).
   PubMed Web of Science ®Google Scholar
• Ariyaratana S, Loeb DM. The role of the Wilms tumour gene (WT1) in normal and malignant haematopoiesis. Expert Rev. Mol. Med.9, 1–17 (2007).
   PubMedGoogle Scholar
• Armstrong JF, Pritchard-Jones K, Bickmore WA, Hastie ND, Bard JB. The expression of the Wilms’ tumour gene, WT1, in the developing mammalian embryo. Mech. Dev.40, 85–97 (1993).
   PubMed Web of Science ®Google Scholar
• Pritchard-Jones K, Fleming S, Davidson D et al. The candidate Wilms’ tumour gene is involved in genitourinary development. Nature346, 194–197 (1990).
   PubMed Web of Science ®Google Scholar
• Rackley RR, Flenniken AM, Kuriyan NP, Kessler PM, Stoler MH, Williams BR. Expression of the Wilms’ tumor suppressor gene WT1 during mouse embryogenesis. Cell Growth Differ.4, 1023–1031 (1993).
   PubMedGoogle Scholar
• Hosen N, Shirakata T, Nishida S et al. The Wilms’ tumor gene WT1–GFP knock-in mouse reveals the dynamic regulation of WT1 expression in normal and leukemic hematopoiesis. Leukemia21, 1783–1791 (2007).
   PubMed Web of Science ®Google Scholar
• Maurer U, Brieger J, Weidmann E, Mitrou PS, Hoelzer D, Bergmann L. The Wilms’ tumor gene is expressed in a subset of CD34+ progenitors and downregulated early in the course of differentiation in vitro. Exp. Hematol.25, 945–950 (1997).
   PubMed Web of Science ®Google Scholar
• Huff V. Wilms’ tumours: about tumour suppressor genes, an oncogene and a chameleon gene. Nat. Rev. Cancer11, 111–121 (2011).
   PubMed Web of Science ®Google Scholar
• Yang L, Han Y, Suarez Saiz F, Minden MD. A tumor suppressor and oncogene: the WT1 story. Leukemia21, 868–876 (2007).
   PubMed Web of Science ®Google Scholar
• Hosen N, Sonoda Y, Oji Y et al. Very low frequencies of human normal CD34+ haematopoietic progenitor cells express the Wilms’ tumour gene WT1 at levels similar to those in leukaemia cells. Br. J. Haematol.116, 409–420 (2002).
   PubMed Web of Science ®Google Scholar
• Inoue K, Ogawa H, Sonoda Y et al. Aberrant overexpression of the Wilms tumor gene (WT1) in human leukemia. Blood89, 1405–1412 (1997).
   PubMed Web of Science ®Google Scholar
• Inoue K, Sugiyama H, Ogawa H et al. WT1 as a new prognostic factor and a new marker for the detection of minimal residual disease in acute leukemia. Blood84, 3071–3079 (1994).
   PubMed Web of Science ®Google Scholar
• Cilloni D, Gottardi E, Messa F et al. Significant correlation between the degree of WT1 expression and the International Prognostic Scoring System Score in patients with myelodysplastic syndromes. J. Clin. Oncol.21, 1988–1995 (2003).
   PubMed Web of Science ®Google Scholar
• Cilloni D, Saglio G. WT1 as a universal marker for minimal residual disease detection and quantification in myeloid leukemias and in myelodysplastic syndrome. Acta Haematol.112, 79–84 (2004).
   PubMed Web of Science ®Google Scholar
• Tamaki H, Ogawa H, Ohyashiki K et al. The Wilms’ tumor gene WT1 is a good marker for diagnosis of disease progression of myelodysplastic syndromes. Leukemia13, 393–399 (1999).
   PubMed Web of Science ®Google Scholar
• Cilloni D, Gottardi E, De Micheli D et al. Quantitative assessment of WT1 expression by real time quantitative PCR may be a useful tool for monitoring minimal residual disease in acute leukemia patients. Leukemia16, 2115–2121 (2002).
   PubMed Web of Science ®Google Scholar
• Cilloni D, Renneville A, Hermitte F et al. Real-time quantitative polymerase chain reaction detection of minimal residual disease by standardized WT1 assay to enhance risk stratification in acute myeloid leukemia: a European LeukemiaNet study. J. Clin. Oncol.27, 5195–5201 (2009).
   PubMed Web of Science ®Google Scholar
• Inoue K, Ogawa H, Yamagami T et al. Long-term follow-up of minimal residual disease in leukemia patients by monitoring WT1 (Wilms tumor gene) expression levels. Blood88, 2267–2278 (1996).
   PubMed Web of Science ®Google Scholar
• Miyawaki S, Hatsumi N, Tamaki T et al. Prognostic potential of detection of WT1 mRNA level in peripheral blood in adult acute myeloid leukemia. Leuk. Lymphoma.51, 1855–1861 (2010).
   PubMed Web of Science ®Google Scholar
• Nowakowska-Kopera A, Sacha T, Florek I, Zawada M, Czekalska S, Skotnicki AB. Wilms’ tumor gene 1 expression analysis by real-time quantitative polymerase chain reaction for monitoring of minimal residual disease in acute leukemia. Leuk. Lymphoma50, 1326–1332 (2009).
   PubMed Web of Science ®Google Scholar
• Ostergaard M, Olesen LH, Hasle H, Kjeldsen E, Hokland P. WT1 gene expression: an excellent tool for monitoring minimal residual disease in 70% of acute myeloid leukaemia patients – results from a single-centre study. Br. J. Haematol.125, 590–600 (2004).
   Google Scholar
• Weisser M, Kern W, Rauhut S et al. Prognostic impact of RT-PCR-based quantification of WT1 gene expression during MRD monitoring of acute myeloid leukemia. Leukemia19, 1416–1423 (2005).
   PubMed Web of Science ®Google Scholar
• Gupta V, Tallman MS, Weisdorf DJ. Allogeneic hematopoietic cell transplantation for adults with acute myeloid leukemia: myths, controversies, and unknowns. Blood117, 2307–2318 (2011).
   PubMed Web of Science ®Google Scholar
• O’Donnell MR, Appelbaum FR, Coutre SE et al. Acute myeloid leukemia. J. Natl Compr. Canc. Netw.6, 962–993 (2008).
   Google Scholar
• Horwitz ME. Reduced intensity versus myeloablative allogeneic stem cell transplantation for the treatment of acute myeloid leukemia, myelodysplastic syndrome and acute lymphoid leukemia. Curr. Opin. Oncol.23, 197–202 (2011).
   Google Scholar
• Mohty M, de Lavallade H, El-Cheikh J et al. Reduced intensity conditioning allogeneic stem cell transplantation for patients with acute myeloid leukemia: long term results of a ‘donor’ versus ‘no donor’ comparison. Leukemia23, 194–196 (2009).
   PubMed Web of Science ®Google Scholar
• Juliusson G, Karlsson K, Lazarevic VL et al. Hematopoietic stem cell transplantation rates and long-term survival in acute myeloid and lymphoblastic leukemia: Real-World Population-Based Data From the Swedish Acute Leukemia Registry 1997–2006. Cancer DOI: 10.1002/cncr.26033 (2011) (Epub ahead of print).
   Google Scholar
• Litzow MR, Tarima S, Perez WS et al. Allogeneic transplantation for therapy-related myelodysplastic syndrome and acute myeloid leukemia. Blood115, 1850–1857 (2010).
   PubMed Web of Science ®Google Scholar
• Candoni A, Tiribelli M, Toffoletti E et al. Quantitative assessment of WT1 gene expression after allogeneic stem cell transplantation is a useful tool for monitoring minimal residual disease in acute myeloid leukemia. Eur. J. Haematol.82, 61–68 (2009).
   PubMed Web of Science ®Google Scholar
• Ogawa H, Ikegame K, Kawakami M, Tamaki H. WT1 gene transcript assay for relapse in acute leukemia after transplantation. Leuk. Lymphoma45, 1747–1753 (2004).
   PubMed Web of Science ®Google Scholar
• Ogawa H, Tamaki H, Ikegame K et al. The usefulness of monitoring WT1 gene transcripts for the prediction and management of relapse following allogeneic stem cell transplantation in acute type leukemia. Blood101, 1698–1704 (2003).
   PubMed Web of Science ®Google Scholar
• Lange T, Hubmann M, Burkhardt R et al. Monitoring of WT1 expression in PB and CD34+ donor chimerism of BM predicts early relapse in AML and MDS patients after hematopoietic cell transplantation with reduced-intensity conditioning. Leukemia25, 498–505 (2011).
   PubMed Web of Science ®Google Scholar
• Candoni A, Toffoletti E, Gallina R et al. Monitoring of minimal residual disease by quantitative WT1 gene expression following reduced intensity conditioning allogeneic stem cell transplantation in acute myeloid leukemia. Clin. Transplant.25(2), 308–316 (2011).
   PubMed Web of Science ®Google Scholar
• Gaiger A, Schmid D, Heinze G et al. Detection of the WT1 transcript by RT-PCR in complete remission has no prognostic relevance in de novo acute myeloid leukemia. Leukemia12, 1886–1894 (1998).
   PubMed Web of Science ®Google Scholar
• Hamalainen MM, Kairisto V, Juvonen V et al. Wilms tumour gene 1 overexpression in bone marrow as a marker for minimal residual disease in acute myeloid leukaemia. Eur. J. Haematol.80, 201–207 (2008).
   Google Scholar
• Elmaagacli AH. Molecular methods used for detection of minimal residual disease following hematopoietic stem cell transplantation in myeloid disorders. Methods Mol. Med.134, 161–178 (2007).
   Google Scholar
• Hadd AG, Brown JT, Andruss BF, Ye F, WalkerPeach CR. Adoption of array technologies into the clinical laboratory. Expert Rev. Mol. Diagn.5, 409–420 (2005).
   PubMed Web of Science ®Google Scholar
• Abdel-Wahab O, Mullally A, Hedvat C et al. Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood114, 144–147 (2009).
   PubMed Web of Science ®Google Scholar
• Aurer I, Labar B, Nemet D, Ajdukovic R, Bogdanic V, Gale RP. High incidence of conservative RAS mutations in acute myeloid leukemia. Acta Haematol.92, 123–125 (1994).
   Google Scholar
• Figueroa ME, Abdel-Wahab O, Lu C et al. Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation. Cancer Cell18, 553–567 (2010).
   PubMed Web of Science ®Google Scholar
• Gelsi-Boyer V, Trouplin V, Adelaide J et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br. J. Haematol.145, 788–800 (2009).
   PubMed Web of Science ®Google Scholar
• Jankowska AM, Szpurka H, Tiu RV et al. Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms. Blood113, 6403–6410 (2009).
   PubMed Web of Science ®Google Scholar
• King-Underwood L, Pritchard-Jones K. Wilms’ tumor (WT1) gene mutations occur mainly in acute myeloid leukemia and may confer drug resistance. Blood91, 2961–2968 (1998).
   PubMed Web of Science ®Google Scholar
• Ley TJ, Ding L, Walter MJ et al. DNMT3A mutations in acute myeloid leukemia. N. Engl. J. Med.363, 2424–2433 (2010).
   PubMed Web of Science ®Google Scholar
• Nikoloski G, Langemeijer SM, Kuiper RP et al. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat. Genet.42, 665–667 (2010).
   PubMed Web of Science ®Google Scholar
• Pabst T, Mueller BU, Zhang P et al. Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-α (C/EBPα), in acute myeloid leukemia. Nat. Genet.27, 263–270 (2001).
   PubMed Web of Science ®Google Scholar