메뉴 건너뛰기




Volumn 54, Issue 1, 2013, Pages 28-35

Proposal for the clinical detection and management of patients and their family members with familial myelodysplastic syndrome/acute leukemia predisposition syndromes

Author keywords

CEBPA; GATA2; Leukemia; MDS; Predisposition; RUNX1

Indexed keywords

ANTINEOPLASTIC AGENT; HLA ANTIGEN; TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR RUNX1;

EID: 84870938434     PISSN: 10428194     EISSN: 10292403     Source Type: Journal    
DOI: 10.3109/10428194.2012.701738     Document Type: Review
Times cited : (80)

References (39)
  • 1
    • 48749090278 scopus 로고    scopus 로고
    • Th erapy-related myeloid leukemia
    • Godley LA, Larson RA. Th erapy-related myeloid leukemia. Semin Oncol 2008 ; 35: 418-429.
    • (2008) Semin Oncol , vol.35 , pp. 418-429
    • Godley, L.A.1    Larson, R.A.2
  • 2
    • 0016840575 scopus 로고
    • Familial leukaemia: A study of 909 families
    • Gunz FW, Gunz JP, Veale AM, et al. Familial leukaemia: A study of 909 families. Scand J Haematol 1975 ; 15: 117-131.
    • (1975) Scand J Haematol , vol.15 , pp. 117-131
    • Gunz, F.W.1    Gunz, J.P.2    Veale, A.M.3
  • 3
    • 0030924499 scopus 로고    scopus 로고
    • The genetics of familial leukemia
    • Horwitz M. The genetics of familial leukemia. Leukemia 1997 ; 11: 1347-1359. (Pubitemid 27387314)
    • (1997) Leukemia , vol.11 , Issue.8 , pp. 1347-1359
    • Horwitz, M.1
  • 6
    • 16544391755 scopus 로고    scopus 로고
    • Mutation of CEBPA in familial acute myeloid leukemia
    • Smith ML, Cavenagh JD, Lister TA, et al. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med 2004; 351: 2403- 2407.
    • (2004) N Engl J Med , vol.351 , pp. 2403-2407
    • Smith, M.L.1    Cavenagh, J.D.2    Lister, T.A.3
  • 7
    • 80053383273 scopus 로고    scopus 로고
    • Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia
    • Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet 2011 ; 43: 1012-1017.
    • (2011) Nat Genet , vol.43 , pp. 1012-1017
    • Hahn, C.N.1    Chong, C.E.2    Carmichael, C.L.3
  • 8
    • 82855172176 scopus 로고    scopus 로고
    • Managing individuals with propensity to myeloid malignancies due to germline RUNX1 defi ciency
    • Ripperger T, Tauscher M, Haase D, et al. Managing individuals with propensity to myeloid malignancies due to germline RUNX1 defi ciency. Haematologica 2011; 96: 1892- 1894.
    • (2011) Haematologica , vol.96 , pp. 1892-1894
    • Ripperger, T.1    Tauscher, M.2    Haase, D.3
  • 9
    • 77956014949 scopus 로고    scopus 로고
    • Inherited bone marrow failure syndromes
    • Dokal I, Vulliamy T. Inherited bone marrow failure syndromes. Haematologica 2010; 95: 1236- 1240.
    • (2010) Haematologica , Issue.95 , pp. 1236-1240
    • Dokal, I.1    Vulliamy, T.2
  • 10
    • 1942509437 scopus 로고    scopus 로고
    • In: Nathan DG Orkin SH Look AT et al. Editors. Nathan And Oski' S Hematology Of Infancy And Childhood. 6th Ed. Philadelphia PA: WB Saunders Inc.
    • Alter BP. Inherited bone marrow failure syndromes. In: Nathan DG, Orkin SH, Look AT, et al., editors. Nathan and Oski' s hematology of infancy and childhood. 6th ed. Philadelphia, PA: WB Saunders Inc.; 2003. pp 280-365.
    • (2003) Inherited Bone Marrow Failure Syndromes , pp. 280-365
    • Alter, B.P.1
  • 12
    • 84155183374 scopus 로고    scopus 로고
    • Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
    • Dror Y, Donadieu J, Koglmeier J, et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann NY Acad Sci 2011 ; 1242: 40-55.
    • (2011) Ann NY Acad Sci , vol.1242 , pp. 40-55
    • Dror, Y.1    Donadieu, J.2    Koglmeier, J.3
  • 13
    • 67651230888 scopus 로고    scopus 로고
    • Dyskeratosis congenita: The fi rst NIH clinical research workshop
    • Savage SA, Dokal I, Armanios M, et al. Dyskeratosis congenita: The fi rst NIH clinical research workshop. Pediatr Blood Cancer 2009 ; 53: 520-523.
    • (2009) Pediatr Blood Cancer , vol.53 , pp. 520-523
    • Savage, S.A.1    Dokal, I.2    Armanios, M.3
  • 14
    • 84856368250 scopus 로고    scopus 로고
    • Hematopoietic stem cell transplantation for severe congenital neutropenia
    • Connelly JA, Choi SW, Levine JE. Hematopoietic stem cell transplantation for severe congenital neutropenia. Curr Opin Hematol 2012 ; 19: 44-51.
    • (2012) Curr Opin Hematol , vol.19 , pp. 44-51
    • Connelly, J.A.1    Choi, S.W.2    Levine, J.E.3
  • 16
    • 37249015529 scopus 로고    scopus 로고
    • Familial myelodysplasia and acute myeloid leukaemia - A review
    • DOI 10.1111/j.1365-2141.2007.06909.x
    • Owen C, Barnett M, Fitzgibbon J. Familial myelodysplasia and acute myeloid leukaemia-a review. Br J Haematol 2008 ; 140: 123-132. (Pubitemid 350265048)
    • (2008) British Journal of Haematology , vol.140 , Issue.2 , pp. 123-132
    • Owen, C.1    Barnett, M.2    Fitzgibbon, J.3
  • 17
    • 0026077406 scopus 로고
    • Inherited platelet-storage pool defi ciency associated with a high incidence of acute myeloid leukaemia
    • Gerrard JM, Israels ED, Bishop AJ, et al. Inherited platelet-storage pool defi ciency associated with a high incidence of acute myeloid leukaemia. Br J Haematol 1991 ; 79: 246-255.
    • (1991) Br J Haematol , vol.79 , pp. 246-255
    • Gerrard, J.M.1    Israels, E.D.2    Bishop, A.J.3
  • 18
    • 1642541190 scopus 로고    scopus 로고
    • Association of CBFA2 mutation with decreased platelet PKC-θ and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phosphorylation: Proteins regulated by CBFA2 play a role in GPIIb-IIIa activation
    • DOI 10.1182/blood-2003-07-2299
    • Sun L, Mao G, Rao AK. Association of CBFA2 mutation with decreased platelet PKC-theta and impaired receptor-mediated activation of GPIIb-IIIa and pleckstrin phosphorylation: Proteins regulated by CBFA2 play a role in GPIIb-IIIa activation. Blood 2004 ; 103: 948-954. (Pubitemid 38129555)
    • (2004) Blood , vol.103 , Issue.3 , pp. 948-954
    • Sun, L.1    Mao, G.2    Rao, A.K.3
  • 19
    • 80053646494 scopus 로고    scopus 로고
    • Familial myelodysplastic syndromes: A review of the literature
    • Liew E, Owen C. Familial myelodysplastic syndromes: A review of the literature. Haematologica 2011 ; 96: 1536-1542.
    • (2011) Haematologica , vol.96 , pp. 1536-1542
    • Liew, E.1    Owen, C.2
  • 20
    • 79960284254 scopus 로고    scopus 로고
    • Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAATenhancer-binding protein alpha from hematopoietic cells in a family with AML
    • Stelljes M, Corbacioglu A, Schlenk RF, et al. Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAATenhancer-binding protein alpha from hematopoietic cells in a family with AML. Leukemia 2011 ; 25: 1209-1210.
    • (2011) Leukemia , vol.25 , pp. 1209-1210
    • Stelljes, M.1    Corbacioglu, A.2    Schlenk, R.F.3
  • 21
    • 79952122978 scopus 로고    scopus 로고
    • Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: Further evidence for CEBPA double mutant AML as a distinctive disease entity
    • Taskesen E, Bullinger L, Corbacioglu A, et al. Prognostic impact, concurrent genetic mutations, and gene expression features of AML with CEBPA mutations in a cohort of 1182 cytogenetically normal AML patients: Further evidence for CEBPA double mutant AML as a distinctive disease entity. Blood 2011 ; 117: 2469-2475.
    • (2011) Blood , vol.117 , pp. 2469-2475
    • Taskesen, E.1    Bullinger, L.2    Corbacioglu, A.3
  • 22
    • 80052089944 scopus 로고    scopus 로고
    • Exome sequencing identifi es GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid defi ciency
    • D ickinson RE, G riffi n H, Bigley V, et al. Exome sequencing identifi es GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid defi ciency. Blood 2011 ; 118: 2656-2658.
    • (2011) Blood , vol.118 , pp. 2656-2658
    • Dickinson, R.E.1    Griffin, H.2    Bigley, V.3
  • 23
    • 79961074298 scopus 로고    scopus 로고
    • Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome
    • H su AP, S ampaio EP, K han J, et al. M utations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood 2011 ; 118: 2653-2655.
    • (2011) Blood , vol.118 , pp. 2653-2655
    • Hsu, A.P.1    Sampaio, E.P.2    Khan, J.3
  • 24
    • 80053385569 scopus 로고    scopus 로고
    • Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)
    • Ostergaard P, Simpson MA, Connell FC, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet 2011; 43: 929- 931.
    • (2011) Nat Genet , Issue.43 , pp. 929-931
    • Ostergaard, P.1    Simpson, M.A.2    Connell, F.C.3
  • 25
    • 79961058537 scopus 로고    scopus 로고
    • Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodefi ciency syndrome: Diagnostic features and clinical implications
    • C alvo KR, V inh DC, M aric I, et al. M yelodysplasia in autosomal dominant and sporadic monocytopenia immunodefi ciency syndrome: Diagnostic features and clinical implications. Haematologica 2011 ; 96: 1221-1225.
    • (2011) Haematologica , vol.96 , pp. 1221-1225
    • Calvo, K.R.1    Vinh, D.C.2    Maric, I.3
  • 26
    • 77954339095 scopus 로고    scopus 로고
    • Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study
    • Alter BP, Giri N, Savage SA, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol 2010 ; 150: 179-188.
    • (2010) Br J Haematol , vol.150 , pp. 179-188
    • Alter, B.P.1    Giri, N.2    Savage, S.A.3
  • 27
    • 78650639126 scopus 로고    scopus 로고
    • The genetics and clinical manifestations of telomere biology disorders
    • Savage SA, Bertuch AA. The genetics and clinical manifestations of telomere biology disorders. Genet Med 2010 ; 12: 753-764.
    • (2010) Genet Med , vol.12 , pp. 753-764
    • Savage, S.A.1    Bertuch, A.A.2
  • 28
    • 70350721794 scopus 로고    scopus 로고
    • Defi ning the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia
    • K irwan M, V ulliamy T, M arrone A, et al. D efi ning the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemia. Hum Mutat 2009 ; 30: 1567-1573.
    • (2009) Hum Mutat , vol.30 , pp. 1567-1573
    • Kirwan, M.1    Vulliamy, T.2    Marrone, A.3
  • 29
    • 84855486059 scopus 로고    scopus 로고
    • Dyskeratosis congenita as a disorder of telomere maintenance
    • Nelson ND, Bertuch AA. Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res 2012; 730: 43- 51.
    • (2012) Mutat Res , Issue.730 , pp. 43-51
    • Nelson, N.D.1    Bertuch, A.A.2
  • 30
    • 79251542351 scopus 로고    scopus 로고
    • Anticipation in familial hematologic malignancies
    • Tegg EM, Th omson RJ, Stankovich JM, et al. Anticipation in familial hematologic malignancies. Blood 2011 ; 117: 1308-1310.
    • (2011) Blood , vol.117 , pp. 1308-1310
    • Tegg, E.M.1    Thomson, R.J.2    Stankovich, J.M.3
  • 32
    • 84943986845 scopus 로고
    • Family history in an oncology clinic. Implications for cancer genetics
    • DOI 10.1001/jama.242.12.1268
    • Lynch HT, Follett KL, Lynch PM, et al. Family history in an oncology clinic. Implications for cancer genetics. JAMA 1979; 242: 1268- 1272. (Pubitemid 10244424)
    • (1979) Journal of the American Medical Association , vol.242 , Issue.12 , pp. 1268-1272
    • Lynch, H.T.1    Follett, K.L.2    Lynch, P.M.3
  • 33
    • 58149378467 scopus 로고    scopus 로고
    • Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy
    • Owen CJ, Toze CL, Koochin A, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008 ; 112: 4639-4645.
    • (2008) Blood , vol.112 , pp. 4639-4645
    • Owen, C.J.1    Toze, C.L.2    Koochin, A.3
  • 34
    • 55549133272 scopus 로고    scopus 로고
    • Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia
    • P abst T, E yholzer M, H aefl iger S, et al. S omatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol 2008 ; 26: 5088-5093.
    • (2008) J Clin Oncol , vol.26 , pp. 5088-5093
    • Pabst, T.1    Eyholzer, M.2    Haefliger, S.3
  • 35
    • 0035525785 scopus 로고    scopus 로고
    • A:novel CBFA2 singlenucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies
    • Buijs A, Poddighe P, van Wijk R, et al. A novel CBFA2 singlenucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood 2001; 98: 2856- 2858.
    • (2001) Blood , vol.98 , pp. 2856-2858
    • Buijs, A.1    Poddighe, P.2    Van Wijk, R.3
  • 36
    • 77349088325 scopus 로고    scopus 로고
    • A:clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions
    • Clancy T. A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions. Fam Cancer 2010 ; 9: 9-14.
    • (2010) Fam Cancer , vol.9 , pp. 9-14
    • Clancy, T.1
  • 37
    • 34347214090 scopus 로고    scopus 로고
    • Available from [38] NCCN Clinical Practice Guidelines in Oncology. Genetic/familial high-risk assessment: Breast and ovarian. v.1. 2011 [Internet] Available from http//wwwnccnorg/professionals/physician-gls/f-guidelinesasp [39] Spits C De Rycke M Van Ranst N et al Preimplantation genetic diagnosis for cancer predisposition syndromes Prenat Diagn
    • National Society of Genetic Counselors. Position statement on prenatal and childhood testing for adult-onset disorders [Internet]. Available from: Http://www.nsgc.org/Media/PositionStatements/tabid/330/Default. aspx#PrenatalChildTestingAdultOnset [38] NCCN Clinical Practice Guidelines in Oncology. Genetic/familial high-risk assessment: Breast and ovarian. v.1. 2011 [Internet]. Available from: Http://www.nccn.org/professionals/physician-gls/f- guidelines.asp [39] Spits C, De Rycke M, Van Ranst N, et al. Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn 2007; 27: 447-456.
    • (2007) National Society of Genetic Counselors. Position statement on prenatal and childhood testing for adult-onset disorders [Internet]. , vol.27 , pp. 447-456
  • 38
    • 80055007380 scopus 로고    scopus 로고
    • A:ttitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome
    • D ewanwala A, C hittenden A, R osenblatt M, et al. A ttitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome. Fam Cancer 2011; 10: 549- 556.
    • (2011) Fam Cancer , Issue.10 , pp. 549-556
    • Dewanwala, A.1    Chittenden, A.2    Rosenblatt, M.3
  • 39
    • 67650095306 scopus 로고    scopus 로고
    • Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells
    • Raya A, Rodriguez-Piza I, Guenechea G, et al. Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells. Nature 2009 ; 460: 53-59.
    • (2009) Nature , vol.460 , pp. 53-59
    • Raya, A.1    Rodriguez-Piza, I.2    Guenechea, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.