메뉴 건너뛰기




Volumn 10, Issue 3, 2015, Pages 282-291

Myelodysplastic Syndromes Diagnosis: What Is the Role of Molecular Testing?

Author keywords

Clonal cytopenias; Cytopenic patients; Myelodysplastic syndrome; Somatic mutations

Indexed keywords

BLOOD CELL COUNT; BONE MARROW EXAMINATION; CHROMOSOME ABERRATION; CYTOPENIA; DYSPLASIA; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GERMLINE MUTATION; HUMAN; MOLECULAR DIAGNOSIS; MYELODYSPLASTIC SYNDROME; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION; BONE MARROW; DNA SEQUENCE; GENETICS; METABOLISM; MUTATION; MYELODYSPLASTIC SYNDROMES; PATHOLOGY;

EID: 84941745959     PISSN: 15588211     EISSN: 1558822X     Source Type: Journal    
DOI: 10.1007/s11899-015-0270-5     Document Type: Review
Times cited : (38)

References (66)
  • 1
    • 0002622007 scopus 로고    scopus 로고
    • Myelodysplastic syndromes
    • Kaushansky K, Lichtman MA, Seligsohn U, (eds), McGraw-Hill Medical, New York
    • Liesveld JL, Lichtman MA. Myelodysplastic syndromes. In: Kaushansky K, Lichtman MA, Seligsohn U, et al., editors. Williams hematology. Eighthth ed. New York: McGraw-Hill Medical; 2010. p. 1249–76.
    • (2010) Williams hematology , pp. 1249-1276
    • Liesveld, J.L.1    Lichtman, M.A.2
  • 2
    • 84925501247 scopus 로고    scopus 로고
    • Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts
    • PID: 25387664
    • Font P, Loscertales J, Soto C, et al. Interobserver variance in myelodysplastic syndromes with less than 5 % bone marrow blasts: unilineage vs. multilineage dysplasia and reproducibility of the threshold of 2 % blasts. Ann Hematol. 2015;94:565–73.
    • (2015) Ann Hematol , vol.94 , pp. 565-573
    • Font, P.1    Loscertales, J.2    Soto, C.3
  • 3
    • 84872320058 scopus 로고    scopus 로고
    • Inter-observer variance with the diagnosis of myelodysplastic syndromes (MDS) following the 2008 WHO classification
    • COI: 1:STN:280:DC%2BC38bktVOmsw%3D%3D, PID: 22948274
    • Font P, Loscertales J, Benavente C, et al. Inter-observer variance with the diagnosis of myelodysplastic syndromes (MDS) following the 2008 WHO classification. Ann Hematol. 2013;92:19–24.
    • (2013) Ann Hematol , vol.92 , pp. 19-24
    • Font, P.1    Loscertales, J.2    Benavente, C.3
  • 4
    • 84901711863 scopus 로고    scopus 로고
    • Clinical and genetic predictors of prognosis in myelodysplastic syndromes
    • COI: 1:CAS:528:DC%2BC2cXhvFKhu7%2FP, PID: 24881041
    • Bejar R. Clinical and genetic predictors of prognosis in myelodysplastic syndromes. Haematologica. 2014;99:956–64.
    • (2014) Haematologica , vol.99 , pp. 956-964
    • Bejar, R.1
  • 5
    • 84924366934 scopus 로고    scopus 로고
    • Myelodysplastic syndromes, version 2.2015
    • COI: 1:CAS:528:DC%2BC2MXlsFejurs%3D, PID: 25736003
    • Greenberg PL, Stone RM, Bejar R, et al. Myelodysplastic syndromes, version 2.2015. J Natl Compr Cancer Netw: JNCCN. 2015;13:261–72.
    • (2015) J Natl Compr Cancer Netw: JNCCN , vol.13 , pp. 261-272
    • Greenberg, P.L.1    Stone, R.M.2    Bejar, R.3
  • 6
    • 84888240132 scopus 로고    scopus 로고
    • Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet
    • COI: 1:CAS:528:DC%2BC3sXhslejurjF, PID: 23980065
    • Malcovati L, Hellstrom-Lindberg E, Bowen D, et al. Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European LeukemiaNet. Blood. 2013;122:2943–64.
    • (2013) Blood , vol.122 , pp. 2943-2964
    • Malcovati, L.1    Hellstrom-Lindberg, E.2    Bowen, D.3
  • 8
    • 84920652658 scopus 로고    scopus 로고
    • Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes
    • Della Porta MG, Travaglino E, Boveri E, et al. Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes. Leukemia. 2014;20:161.
    • (2014) Leukemia , vol.20 , pp. 161
    • Della Porta, M.G.1    Travaglino, E.2    Boveri, E.3
  • 9
    • 0030033821 scopus 로고    scopus 로고
    • Diagnostic discrimination and cost effective assay strategy for leukocyte alkaline phosphatase
    • COI: 1:CAS:528:DyaK28XkslKrtw%3D%3D, PID: 8919203
    • DePalma L, Delgado P, Werner M. Diagnostic discrimination and cost effective assay strategy for leukocyte alkaline phosphatase. Clin Chim Acta. 1996;244:83–90.
    • (1996) Clin Chim Acta , vol.244 , pp. 83-90
    • DePalma, L.1    Delgado, P.2    Werner, M.3
  • 10
    • 19244365984 scopus 로고    scopus 로고
    • Quantitative real-time reverse-transcription polymerase chain reaction for diagnosis of BCR-ABL positive leukemias and molecular monitoring following allogeneic stem cell transplantation
    • COI: 1:CAS:528:DC%2BD3sXhsFOhsbs%3D, PID: 12631253
    • Neumann F, Herold C, Hildebrandt B, et al. Quantitative real-time reverse-transcription polymerase chain reaction for diagnosis of BCR-ABL positive leukemias and molecular monitoring following allogeneic stem cell transplantation. Eur J Haematol. 2003;70:1–10.
    • (2003) Eur J Haematol , vol.70 , pp. 1-10
    • Neumann, F.1    Herold, C.2    Hildebrandt, B.3
  • 11
    • 70349256226 scopus 로고    scopus 로고
    • The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes
    • COI: 1:CAS:528:DC%2BD1MXps1eit70%3D, PID: 19357394
    • Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114:937–51.
    • (2009) Blood , vol.114 , pp. 937-951
    • Vardiman, J.W.1    Thiele, J.2    Arber, D.A.3
  • 12
    • 85003055731 scopus 로고    scopus 로고
    • From Philadelphia-negative to JAK2-positive: effect of genetic discovery on risk stratification and management
    • Pemmaraju N, Moliterno AR. From Philadelphia-negative to JAK2-positive: effect of genetic discovery on risk stratification and management. Am Soc Clin Oncol Educ Book. 2015;35:139–45.
    • (2015) Am Soc Clin Oncol Educ Book , vol.35 , pp. 139-145
    • Pemmaraju, N.1    Moliterno, A.R.2
  • 13
    • 84875910316 scopus 로고    scopus 로고
    • Molecular pathophysiology of myelodysplastic syndromes
    • COI: 1:CAS:528:DC%2BC3sXltVKqsrw%3D, PID: 22934674, Excellent review on somatic mutations and the molecular pathology of MDS.
    • Lindsley RC, Ebert BL. Molecular pathophysiology of myelodysplastic syndromes. Annu Rev Pathol. 2013;8:21–47. Excellent review on somatic mutations and the molecular pathology of MDS.
    • (2013) Annu Rev Pathol , vol.8 , pp. 21-47
    • Lindsley, R.C.1    Ebert, B.L.2
  • 14
    • 79959794787 scopus 로고    scopus 로고
    • Clinical effect of point mutations in myelodysplastic syndromes
    • COI: 1:CAS:528:DC%2BC3MXosVeis7s%3D, PID: 21714648, This is one of three large studies to demonstrate that somatic mutations have prognostic significance independent of the IPSS.
    • Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364:2496–506. This is one of three large studies to demonstrate that somatic mutations have prognostic significance independent of the IPSS.
    • (2011) N Engl J Med , vol.364 , pp. 2496-2506
    • Bejar, R.1    Stevenson, K.2    Abdel-Wahab, O.3
  • 15
    • 84888219405 scopus 로고    scopus 로고
    • Clinical and biological implications of driver mutations in myelodysplastic syndromes
    • COI: 1:CAS:528:DC%2BC3sXhvVKjsL%2FF, PID: 24030381, This is one of three large studies that examined patterns of mutations and their prognostic value in a large cohort of MDS patients.
    • Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122:3616–27. This is one of three large studies that examined patterns of mutations and their prognostic value in a large cohort of MDS patients.
    • (2013) Blood , vol.122 , pp. 3616-3627
    • Papaemmanuil, E.1    Gerstung, M.2    Malcovati, L.3
  • 16
    • 84893772765 scopus 로고    scopus 로고
    • Landscape of genetic lesions in 944 patients with myelodysplastic syndromes
    • COI: 1:CAS:528:DC%2BC3sXhvVyktL7N, This is one of three large studies that examined patterns of mutations and their prognostic value in a large cohort of MDS patients.
    • Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leuk: Off J Leuk Soc Am, Leuk Res Fund, UK. 2014;28:241–7. This is one of three large studies that examined patterns of mutations and their prognostic value in a large cohort of MDS patients.
    • (2014) Leuk: Off J Leuk Soc Am, Leuk Res Fund, UK , vol.28 , pp. 241-247
    • Haferlach, T.1    Nagata, Y.2    Grossmann, V.3
  • 17
    • 79960229916 scopus 로고    scopus 로고
    • Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias
    • COI: 1:CAS:528:DC%2BC3MXoslOitL0%3D, PID: 21494260
    • Itzykson R, Kosmider O, Cluzeau T, et al. Impact of TET2 mutations on response rate to azacitidine in myelodysplastic syndromes and low blast count acute myeloid leukemias. Leukemia. 2011;25:1147–52.
    • (2011) Leukemia , vol.25 , pp. 1147-1152
    • Itzykson, R.1    Kosmider, O.2    Cluzeau, T.3
  • 18
    • 84891876933 scopus 로고    scopus 로고
    • Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms
    • COI: 1:CAS:528:DC%2BC2cXmtVCqsA%3D%3D, PID: 24045501
    • Traina F, Visconte V, Elson P, et al. Impact of molecular mutations on treatment response to DNMT inhibitors in myelodysplasia and related neoplasms. Leukemia. 2014;28:78–87.
    • (2014) Leukemia , vol.28 , pp. 78-87
    • Traina, F.1    Visconte, V.2    Elson, P.3
  • 19
    • 84906809218 scopus 로고    scopus 로고
    • Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation
    • This article demonstrates the predictive value of somatic mutations in MDS patients undergoing allogeneic stem cell transplant.
    • Bejar R, Stevenson KE, Caughey B, et al. Somatic mutations predict poor outcome in patients with myelodysplastic syndrome after hematopoietic stem-cell transplantation. J Clin Oncol: Off J Am Soc Clin Oncol. 2014;32:2691–8. This article demonstrates the predictive value of somatic mutations in MDS patients undergoing allogeneic stem cell transplant.
    • (2014) J Clin Oncol: Off J Am Soc Clin Oncol , vol.32 , pp. 2691-2698
    • Bejar, R.1    Stevenson, K.E.2    Caughey, B.3
  • 20
    • 84908247072 scopus 로고    scopus 로고
    • TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients
    • COI: 1:CAS:528:DC%2BC2cXhvVygsrjF, PID: 25224413, This article demonstrates the predictive value of somatic mutations in MDS patients treated with hypomethylating agents.
    • Bejar R, Lord A, Stevenson K, et al. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood. 2014;124:2705–12. This article demonstrates the predictive value of somatic mutations in MDS patients treated with hypomethylating agents.
    • (2014) Blood , vol.124 , pp. 2705-2712
    • Bejar, R.1    Lord, A.2    Stevenson, K.3
  • 21
    • 84926688654 scopus 로고    scopus 로고
    • I walk the line: how to tell MDS from other bone marrow failure conditions
    • PID: 25079655
    • Gondek LP, DeZern AE. I walk the line: how to tell MDS from other bone marrow failure conditions. Curr Hematol Malig Rep. 2014;9:389–99.
    • (2014) Curr Hematol Malig Rep , vol.9 , pp. 389-399
    • Gondek, L.P.1    DeZern, A.E.2
  • 22
    • 84904871973 scopus 로고    scopus 로고
    • Perspective on how to approach molecular diagnostics in acute myeloid leukemia and myelodysplastic syndromes in the era of next-generation sequencing
    • COI: 1:CAS:528:DC%2BC2cXht1alurfI, PID: 24144312
    • Kohlmann A, Bacher U, Schnittger S, et al. Perspective on how to approach molecular diagnostics in acute myeloid leukemia and myelodysplastic syndromes in the era of next-generation sequencing. Leuk Lymphoma. 2014;55:1725–34.
    • (2014) Leuk Lymphoma , vol.55 , pp. 1725-1734
    • Kohlmann, A.1    Bacher, U.2    Schnittger, S.3
  • 23
    • 34249786233 scopus 로고    scopus 로고
    • Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes: Consensus statements and report from a working conference
    • PID: 17257673
    • Valent P, Horny HP, Bennett JM, et al. Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes: Consensus statements and report from a working conference. Leuk Res. 2007;31:727–36.
    • (2007) Leuk Res , vol.31 , pp. 727-736
    • Valent, P.1    Horny, H.P.2    Bennett, J.M.3
  • 24
    • 84860682437 scopus 로고    scopus 로고
    • Validation of the MD Anderson prognostic risk model for patients with myelodysplastic syndrome
    • PID: 21956402
    • Komrokji RS, Corrales-Yepez M, Al Ali N, et al. Validation of the MD Anderson prognostic risk model for patients with myelodysplastic syndrome. Cancer. 2012;118:2659–64.
    • (2012) Cancer , vol.118 , pp. 2659-2664
    • Komrokji, R.S.1    Corrales-Yepez, M.2    Al Ali, N.3
  • 25
    • 40749135870 scopus 로고    scopus 로고
    • A prognostic score for patients with lower risk myelodysplastic syndrome
    • COI: 1:STN:280:DC%2BD1c7nsVKntw%3D%3D, PID: 18079733
    • Garcia-Manero G, Shan J, Faderl S, et al. A prognostic score for patients with lower risk myelodysplastic syndrome. Leukemia. 2008;22:538–43.
    • (2008) Leukemia , vol.22 , pp. 538-543
    • Garcia-Manero, G.1    Shan, J.2    Faderl, S.3
  • 26
    • 84866749552 scopus 로고    scopus 로고
    • Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes
    • Bejar R, Stevenson KE, Caughey BA, et al. Validation of a prognostic model and the impact of mutations in patients with lower-risk myelodysplastic syndromes. J Clin Oncol: Off J Am Soc Clin Oncol. 2012;30:3376–82.
    • (2012) J Clin Oncol: Off J Am Soc Clin Oncol , vol.30 , pp. 3376-3382
    • Bejar, R.1    Stevenson, K.E.2    Caughey, B.A.3
  • 27
    • 70450239681 scopus 로고    scopus 로고
    • Mutations of ASXL1 gene in myeloproliferative neoplasms
    • COI: 1:CAS:528:DC%2BD1MXhtl2hsrjJ, PID: 19609284
    • Carbuccia N, Murati A, Trouplin V, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23:2183–6.
    • (2009) Leukemia , vol.23 , pp. 2183-2186
    • Carbuccia, N.1    Murati, A.2    Trouplin, V.3
  • 28
    • 66849124925 scopus 로고    scopus 로고
    • Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia
    • COI: 1:CAS:528:DC%2BD1MXosVartbw%3D, PID: 19388938
    • 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. 2009;145:788–800.
    • (2009) Br J Haematol , vol.145 , pp. 788-800
    • Gelsi-Boyer, V.1    Trouplin, V.2    Adelaide, J.3
  • 29
    • 84908246382 scopus 로고    scopus 로고
    • Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome
    • COI: 1:CAS:528:DC%2BC2cXhvVygsrjL, PID: 25139356
    • Kulasekararaj AG, Jiang J, Smith AE, et al. Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome. Blood. 2014;124:2698–704.
    • (2014) Blood , vol.124 , pp. 2698-2704
    • Kulasekararaj, A.G.1    Jiang, J.2    Smith, A.E.3
  • 30
    • 84855718050 scopus 로고    scopus 로고
    • TET2 and DNMT3A mutations in human T-cell lymphoma
    • COI: 1:CAS:528:DC%2BC38XhtVKiuro%3D, PID: 22216861
    • Couronne L, Bastard C, Bernard OA. TET2 and DNMT3A mutations in human T-cell lymphoma. N Engl J Med. 2012;366:95–6.
    • (2012) N Engl J Med , vol.366 , pp. 95-96
    • Couronne, L.1    Bastard, C.2    Bernard, O.A.3
  • 31
    • 80053900941 scopus 로고    scopus 로고
    • Frequent pathway mutations of splicing machinery in myelodysplasia
    • COI: 1:CAS:528:DC%2BC3MXhtFGnur3M, PID: 21909114, This article describes somatic mutations in 8 splicing factor genes and their frequency in myeloid malignancies.
    • Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478:64–9. This article describes somatic mutations in 8 splicing factor genes and their frequency in myeloid malignancies.
    • (2011) Nature , vol.478 , pp. 64-69
    • Yoshida, K.1    Sanada, M.2    Shiraishi, Y.3
  • 32
    • 84906908742 scopus 로고    scopus 로고
    • Acquired initiating mutations in early hematopoietic cells of CLL patients
    • COI: 1:CAS:528:DC%2BC2cXhsVykurzN, PID: 24920063
    • Damm F, Mylonas E, Cosson A, et al. Acquired initiating mutations in early hematopoietic cells of CLL patients. Cancer Discov. 2014;4:1088–101.
    • (2014) Cancer Discov , vol.4 , pp. 1088-1101
    • Damm, F.1    Mylonas, E.2    Cosson, A.3
  • 33
    • 84855370035 scopus 로고    scopus 로고
    • SF3B1 and other novel cancer genes in chronic lymphocytic leukemia
    • COI: 1:CAS:528:DC%2BC38XktVantg%3D%3D, PID: 22150006
    • Wang L, Lawrence MS, Wan Y, et al. SF3B1 and other novel cancer genes in chronic lymphocytic leukemia. N Engl J Med. 2011;365:2497–506.
    • (2011) N Engl J Med , vol.365 , pp. 2497-2506
    • Wang, L.1    Lawrence, M.S.2    Wan, Y.3
  • 34
    • 0029901946 scopus 로고    scopus 로고
    • Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age
    • COI: 1:CAS:528:DyaK28XjvFSnsLk%3D, PID: 8704202
    • Busque L, Mio R, Mattioli J, et al. Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age. Blood. 1996;88:59–65.
    • (1996) Blood , vol.88 , pp. 59-65
    • Busque, L.1    Mio, R.2    Mattioli, J.3
  • 35
    • 65349193344 scopus 로고    scopus 로고
    • Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies
    • COI: 1:CAS:528:DC%2BD1MXkslCku74%3D, PID: 19202126
    • Busque L, Paquette Y, Provost S, et al. Skewing of X-inactivation ratios in blood cells of aging women is confirmed by independent methodologies. Blood. 2009;113:3472–4.
    • (2009) Blood , vol.113 , pp. 3472-3474
    • Busque, L.1    Paquette, Y.2    Provost, S.3
  • 36
    • 84868208186 scopus 로고    scopus 로고
    • Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis
    • COI: 1:CAS:528:DC%2BC38XhtlyltrnJ, PID: 23001125
    • Busque L, Patel JP, Figueroa ME, et al. Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. Nat Genet. 2012;44:1179–81.
    • (2012) Nat Genet , vol.44 , pp. 1179-1181
    • Busque, L.1    Patel, J.P.2    Figueroa, M.E.3
  • 37
    • 84861628224 scopus 로고    scopus 로고
    • Detectable clonal mosaicism and its relationship to aging and cancer
    • COI: 1:CAS:528:DC%2BC38XmsFOrt7g%3D, PID: 22561519
    • Jacobs KB, Yeager M, Zhou W, et al. Detectable clonal mosaicism and its relationship to aging and cancer. Nat Genet. 2012;44:651–8.
    • (2012) Nat Genet , vol.44 , pp. 651-658
    • Jacobs, K.B.1    Yeager, M.2    Zhou, W.3
  • 38
    • 84861591789 scopus 로고    scopus 로고
    • Detectable clonal mosaicism from birth to old age and its relationship to cancer
    • COI: 1:CAS:528:DC%2BC38XmsFOrt7k%3D, PID: 22561516
    • Laurie CC, Laurie CA, Rice K, et al. Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet. 2012;44:642–50.
    • (2012) Nat Genet , vol.44 , pp. 642-650
    • Laurie, C.C.1    Laurie, C.A.2    Rice, K.3
  • 39
    • 84920053873 scopus 로고    scopus 로고
    • Age-related clonal hematopoiesis associated with adverse outcomes
    • PID: 25426837, This is one of two whole exome sequencing studies that describe age-related somatic mutations in the blood of GWAS participants.
    • Jaiswal S, Fontanillas P, Flannick J, et al. Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med. 2014;371:2488–98. This is one of two whole exome sequencing studies that describe age-related somatic mutations in the blood of GWAS participants.
    • (2014) N Engl J Med , vol.371 , pp. 2488-2498
    • Jaiswal, S.1    Fontanillas, P.2    Flannick, J.3
  • 40
    • 84930003179 scopus 로고    scopus 로고
    • Age-related mutations associated with clonal hematopoietic expansion and malignancies
    • COI: 1:CAS:528:DC%2BC2cXhslOisrvI, PID: 25326804
    • Xie M, Lu C, Wang J, et al. Age-related mutations associated with clonal hematopoietic expansion and malignancies. Nat Med. 2014;20:1472–8.
    • (2014) Nat Med , vol.20 , pp. 1472-1478
    • Xie, M.1    Lu, C.2    Wang, J.3
  • 41
    • 84920024296 scopus 로고    scopus 로고
    • Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence
    • PID: 25426838, This is one of two whole exome sequencing studies that describe age-related somatic mutations in the blood of GWAS participants.
    • Genovese G, Kahler AK, Handsaker RE, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014;371:2477–87. This is one of two whole exome sequencing studies that describe age-related somatic mutations in the blood of GWAS participants.
    • (2014) N Engl J Med , vol.371 , pp. 2477-2487
    • Genovese, G.1    Kahler, A.K.2    Handsaker, R.E.3
  • 43
    • 84872171995 scopus 로고    scopus 로고
    • Dysplasia has a differential diagnosis: distinguishing genuine myelodysplastic syndromes (MDS) from mimics, imitators, copycats and impostors
    • PID: 23015360, An excellent guide to the challenges associated with the diagnosis of MDS.
    • Steensma DP. Dysplasia has a differential diagnosis: distinguishing genuine myelodysplastic syndromes (MDS) from mimics, imitators, copycats and impostors. Curr Hematol Malig Rep. 2012;7:310–20. An excellent guide to the challenges associated with the diagnosis of MDS.
    • (2012) Curr Hematol Malig Rep , vol.7 , pp. 310-320
    • Steensma, D.P.1
  • 44
    • 83555162627 scopus 로고    scopus 로고
    • Idiopathic cytopenia of undetermined significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), and their distinction from low risk MDS
    • PID: 21920601
    • Valent P, Bain BJ, Bennett JM, et al. Idiopathic cytopenia of undetermined significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), and their distinction from low risk MDS. Leuk Res. 2012;36:1–5.
    • (2012) Leuk Res , vol.36 , pp. 1-5
    • Valent, P.1    Bain, B.J.2    Bennett, J.M.3
  • 45
    • 77958510028 scopus 로고    scopus 로고
    • Distinguishing myelodysplastic syndromes (MDS) from idiopathic cytopenia of undetermined significance (ICUS): HUMARA unravels clonality in a subgroup of patients
    • COI: 1:STN:280:DC%2BC3cbhsVSjsg%3D%3D, PID: 20439346
    • Schroeder T, Ruf L, Bernhardt A, et al. Distinguishing myelodysplastic syndromes (MDS) from idiopathic cytopenia of undetermined significance (ICUS): HUMARA unravels clonality in a subgroup of patients. Ann Oncol. 2010;21:2267–71.
    • (2010) Ann Oncol , vol.21 , pp. 2267-2271
    • Schroeder, T.1    Ruf, L.2    Bernhardt, A.3
  • 46
    • 84941731216 scopus 로고    scopus 로고
    • Somatic mutations indicative of clonal hematopoiesis are present in a large fraction of cytopenic patients who lack diagnostic evidence of MDS
    • Hall J, Al Hafidh J, Balmert E, et al. Somatic mutations indicative of clonal hematopoiesis are present in a large fraction of cytopenic patients who lack diagnostic evidence of MDS. Blood. 2014;124:3272.
    • (2014) Blood , vol.124 , pp. 3272
    • Hall, J.1    Al Hafidh, J.2    Balmert, E.3
  • 47
    • 84937835468 scopus 로고    scopus 로고
    • Next-generation sequencing (NGS)-based profiling of idiopathic cytopenia of undetermined significance (ICUS) identifies a subset of patients with genomic similarities to lower-risk myelodysplastic syndrome (MDS)
    • Kwok B, Reddy P, Lin K, et al. Next-generation sequencing (NGS)-based profiling of idiopathic cytopenia of undetermined significance (ICUS) identifies a subset of patients with genomic similarities to lower-risk myelodysplastic syndrome (MDS). Blood. 2014;124:166.
    • (2014) Blood , vol.124 , pp. 166
    • Kwok, B.1    Reddy, P.2    Lin, K.3
  • 48
    • 79959293462 scopus 로고    scopus 로고
    • BRAF mutations in hairy-cell leukemia
    • COI: 1:CAS:528:DC%2BC3MXns12it78%3D, PID: 21663470
    • Tiacci E, Trifonov V, Schiavoni G, et al. BRAF mutations in hairy-cell leukemia. N Engl J Med. 2011;364:2305–15.
    • (2011) N Engl J Med , vol.364 , pp. 2305-2315
    • Tiacci, E.1    Trifonov, V.2    Schiavoni, G.3
  • 49
    • 84892179615 scopus 로고    scopus 로고
    • Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation
    • COI: 1:STN:280:DC%2BC2c3nsVCgug%3D%3D, PID: 24317090
    • Andersson EI, Rajala HL, Eldfors S, et al. Novel somatic mutations in large granular lymphocytic leukemia affecting the STAT-pathway and T-cell activation. Blood Cancer J. 2013;3:e168.
    • (2013) Blood Cancer J , vol.3 , pp. 168
    • Andersson, E.I.1    Rajala, H.L.2    Eldfors, S.3
  • 50
    • 84880768462 scopus 로고    scopus 로고
    • Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia
    • COI: 1:CAS:528:DC%2BC3sXpsFGrsb8%3D, PID: 23596048
    • Rajala HL, Eldfors S, Kuusanmaki H, et al. Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia. Blood. 2013;121:4541–50.
    • (2013) Blood , vol.121 , pp. 4541-4550
    • Rajala, H.L.1    Eldfors, S.2    Kuusanmaki, H.3
  • 51
    • 84924691959 scopus 로고    scopus 로고
    • Clonal hematopoiesis and blood-cancer risk
    • COI: 1:CAS:528:DC%2BC2MXhtVOjtbrF, PID: 25760361
    • Genovese G, Jaiswal S, Ebert BL, et al. Clonal hematopoiesis and blood-cancer risk. N Engl J Med. 2015;372:1071–2.
    • (2015) N Engl J Med , vol.372 , pp. 1071-1072
    • Genovese, G.1    Jaiswal, S.2    Ebert, B.L.3
  • 52
    • 84878372012 scopus 로고    scopus 로고
    • Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia
    • Cancer Genome Atlas Research N. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368:2059–74.
    • (2013) N Engl J Med , vol.368 , pp. 2059-2074
    • Cancer Genome Atlas Research, N.1
  • 53
    • 84929167143 scopus 로고    scopus 로고
    • Inherited and somatic defects in DDX41 in myeloid neoplasms
    • COI: 1:CAS:528:DC%2BC2MXntFKjt7Y%3D, PID: 25920683
    • Polprasert C, Schulze I, Sekeres MA, et al. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell. 2015;27:658–70.
    • (2015) Cancer Cell , vol.27 , pp. 658-670
    • Polprasert, C.1    Schulze, I.2    Sekeres, M.A.3
  • 54
    • 84926216729 scopus 로고    scopus 로고
    • Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy
    • COI: 1:CAS:528:DC%2BC2MXmtV2rsA%3D%3D, PID: 25581430
    • Zhang MY, Churpek JE, Keel SB, et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47:180–5.
    • (2015) Nat Genet , vol.47 , pp. 180-185
    • Zhang, M.Y.1    Churpek, J.E.2    Keel, S.B.3
  • 55
    • 84896274551 scopus 로고    scopus 로고
    • Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations
    • COI: 1:CAS:528:DC%2BC2cXpslyltrw%3D, PID: 24467820
    • West AH, Godley LA, Churpek JE. Familial myelodysplastic syndrome/acute leukemia syndromes: a review and utility for translational investigations. Ann N Y Acad Sci. 2014;1310:111–8.
    • (2014) Ann N Y Acad Sci , vol.1310 , pp. 111-118
    • West, A.H.1    Godley, L.A.2    Churpek, J.E.3
  • 56
    • 77954332797 scopus 로고    scopus 로고
    • Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome
    • PID: 20586629
    • Talwalkar SS, Yin CC, Naeem RC, et al. Myelodysplastic syndromes arising in patients with germline TP53 mutation and Li-Fraumeni syndrome. Arch Pathol Lab Med. 2010;134:1010–5.
    • (2010) Arch Pathol Lab Med , vol.134 , pp. 1010-1015
    • Talwalkar, S.S.1    Yin, C.C.2    Naeem, R.C.3
  • 57
    • 79955016374 scopus 로고    scopus 로고
    • Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML
    • COI: 1:CAS:528:DC%2BC3MXlsVSqur0%3D, PID: 21505135
    • Link DC, Schuettpelz LG, Shen D, et al. Identification of a novel TP53 cancer susceptibility mutation through whole-genome sequencing of a patient with therapy-related AML. JAMA. 2011;305:1568–76.
    • (2011) JAMA , vol.305 , pp. 1568-1576
    • Link, D.C.1    Schuettpelz, L.G.2    Shen, D.3
  • 58
    • 0029400779 scopus 로고
    • Identification and treatment of late onset Fanconi’s anemia
    • COI: 1:STN:280:DyaK283is1KlsQ%3D%3D, PID: 8647521
    • Zatterale A, Calzone R, Renda S, et al. Identification and treatment of late onset Fanconi’s anemia. Haematologica. 1995;80:535–8.
    • (1995) Haematologica , vol.80 , pp. 535-538
    • Zatterale, A.1    Calzone, R.2    Renda, S.3
  • 59
    • 33749438404 scopus 로고    scopus 로고
    • Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion
    • COI: 1:CAS:528:DC%2BD28XhtVGgtrvO, PID: 17021321
    • List A, Dewald G, Bennett J, et al. Lenalidomide in the myelodysplastic syndrome with chromosome 5q deletion. N Engl J Med. 2006;355:1456–65.
    • (2006) N Engl J Med , vol.355 , pp. 1456-1465
    • List, A.1    Dewald, G.2    Bennett, J.3
  • 60
    • 80054010617 scopus 로고    scopus 로고
    • Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts
    • COI: 1:CAS:528:DC%2BC3MXhtlals7jN, PID: 21995386
    • Papaemmanuil E, Cazzola M, Boultwood J, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365:1384–95.
    • (2011) N Engl J Med , vol.365 , pp. 1384-1395
    • Papaemmanuil, E.1    Cazzola, M.2    Boultwood, J.3
  • 61
    • 84860767817 scopus 로고    scopus 로고
    • SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications
    • COI: 1:CAS:528:DC%2BC38XmvFemsb0%3D, PID: 22064355
    • Damm F, Thol F, Kosmider O, et al. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia. 2012;26:1137–40.
    • (2012) Leukemia , vol.26 , pp. 1137-1140
    • Damm, F.1    Thol, F.2    Kosmider, O.3
  • 62
    • 0020527885 scopus 로고
    • Prevalence and distribution of ringed sideroblasts in primary myelodysplastic syndromes
    • COI: 1:STN:280:DyaL3s7os1ymsA%3D%3D, PID: 6841648
    • Juneja SK, Imbert M, Sigaux F, et al. Prevalence and distribution of ringed sideroblasts in primary myelodysplastic syndromes. J Clin Pathol. 1983;36:566–9.
    • (1983) J Clin Pathol , vol.36 , pp. 566-569
    • Juneja, S.K.1    Imbert, M.2    Sigaux, F.3
  • 63
    • 85017814018 scopus 로고    scopus 로고
    • Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia
    • Malcovati L, Papaemmanuil E, Ambaglio I, et al. Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. Blood. 2014;26:2014–03.
    • (2014) Blood , vol.26 , pp. 2003-2014
    • Malcovati, L.1    Papaemmanuil, E.2    Ambaglio, I.3
  • 64
    • 84941748195 scopus 로고    scopus 로고
    • Malcovati L, Karimi M, Papaemmanuil E, et al.: SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood, 2015. This study demonstrates how somatic mutations in SF3B1 identify a molecular subtype of MDS with share clinical features
    • Malcovati L, Karimi M, Papaemmanuil E, et al.: SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood, 2015. This study demonstrates how somatic mutations inSF3B1identify a molecular subtype of MDS with share clinical features.
  • 65
    • 84901706039 scopus 로고    scopus 로고
    • Association of the type of 5q loss with complex karyotype, clonal evolution, TP53 mutation status, and prognosis in acute myeloid leukemia and myelodysplastic syndrome
    • Volkert S, Kohlmann A, Schnittger S, et al. Association of the type of 5q loss with complex karyotype, clonal evolution, TP53 mutation status, and prognosis in acute myeloid leukemia and myelodysplastic syndrome. Genes, Chromosomes Cancer. 2014;3:22151.
    • (2014) Genes, Chromosomes Cancer , vol.3 , pp. 22151
    • Volkert, S.1    Kohlmann, A.2    Schnittger, S.3
  • 66
    • 84867230100 scopus 로고    scopus 로고
    • Incidence of 17p deletions and TP53 mutation in myelodysplastic syndrome and acute myeloid leukemia with 5q deletion
    • COI: 1:CAS:528:DC%2BC38Xht1Kktb3M, PID: 22933333
    • Sebaa A, Ades L, Baran-Marzack F, et al. Incidence of 17p deletions and TP53 mutation in myelodysplastic syndrome and acute myeloid leukemia with 5q deletion. Genes, Chromosomes Cancer. 2012;51:1086–92.
    • (2012) Genes, Chromosomes Cancer , vol.51 , pp. 1086-1092
    • Sebaa, A.1    Ades, L.2    Baran-Marzack, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.