Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents

Blood

Volumn 127, Issue 11, 2016, Pages 1387-1397

  Wlodarski, Marcin W ^a,b   Hirabayashi, Shinsuke ^a   Pastor, Victor ^a   Starý, Jan ^c   Hasle, Henrik ^d   Masetti, Riccardo ^e   Dworzak, Michael ^f   Schmugge, Markus ^g   Van Den Heuvel Eibrink, Marry ^h   Ussowicz, Marek ⁱ   De Moerloose, Barbara ^j   Catala, Albert ^k   Smith, Owen P ^l   Sedlacek, Petr ^c   Lankester, Arjan C ^m   Zecca, Marco ⁿ   Bordon, Victoria ^j   Matthes Martin, Susanne ^f   Abrahamsson, Jonas ^o   Kühl, Jörn Sven ^p   Sykora, Karl Walter ^q   Albert, Michael H ^r   Przychodzien, Bartlomiej ^s   Maciejewski, Jaroslaw P ^s   Schwarz, Stephan ^t   Göhring, Gudrun ^q   Schlegelberger, Brigitte ^q   Cseh, Annámaria ^a   Noellke, Peter ^a   Yoshimi, Ayami ^a   Locatelli, Franco ^u,v   Baumann, Irith ^w   Strahm, Brigitte ^a   Niemeyer, Charlotte M ^a,b   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b German Cancer Consortium   (Germany)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d AARHUS UNIVERSITY HOSPITAL   (Denmark)

^e UNIVERSITY OF BOLOGNA   (Italy)

^f MEDICAL UNIVERSITY OF VIENNA   (Austria)

^g UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^h DCOG Dutch Childhood Oncology Group   (Netherlands)

ⁱ WROCLAW MEDICAL UNIVERSITY   (Poland)

^j GHENT UNIVERSITY HOSPITAL   (Belgium)

^k HOSPITAL SANT JOAN DE DÉU   (Spain)

^l OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^m LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁿ FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^o QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^p CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^q HANNOVER MEDICAL SCHOOL   (Germany)

^r LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^s TAUSSIG CANCER INSTITUTE   (United States)

^t UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^u BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^v UNIVERSITY OF PAVIA   (Italy)

^w Clinical Center   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 2;

ADOLESCENT; APLASTIC ANEMIA; ARTICLE; CHILD; CLINICAL FEATURE; CLINICAL TRIAL; CONTROLLED STUDY; DISEASE PREDISPOSITION; EUROPEAN; FEMALE; GATA 2 GENE; GENE; GERMANY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HIGH RISK POPULATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MONOCYTOSIS; MONOSOMY 7; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; NUCLEOTIDE SEQUENCE; OVERALL SURVIVAL; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN POLYMORPHISM; SELECTION BIAS; TRISOMY 8; CHROMOSOME 1; CHROMOSOME 7; CHROMOSOME 8; CHROMOSOME ABERRATION; DEFICIENCY; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION; GENETICS; GERMLINE MUTATION; HEARING IMPAIRMENT; IMMUNE DEFICIENCY; KAPLAN MEIER METHOD; MYELODYSPLASTIC SYNDROMES; ONSET AGE; PATHOLOGY; PHASE 3 CLINICAL TRIAL (TOPIC); PRESCHOOL CHILD; PROSPECTIVE STUDY; YOUNG ADULT;

ADOLESCENT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 7; CHROMOSOMES, HUMAN, PAIR 8; CLINICAL TRIALS, PHASE III AS TOPIC; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; GATA2 TRANSCRIPTION FACTOR; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; KAPLAN-MEIER ESTIMATE; MALE; MYELODYSPLASTIC SYNDROMES; PHENOTYPE; PREVALENCE; PROGNOSIS; PROSPECTIVE STUDIES; SELECTION BIAS; YOUNG ADULT;

EID: 84962621954     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2015-09-669937     Document Type: Article

References (43)

1. Watson IR, Takahashi K, Futreal PA, Chin L. Emerging patterns of somatic mutations in cancer. Nat Rev Genet. 2013; 14(10): 703-718.
2. Baumann I, Niemeyer CMBJ, Shannon K. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC Press; 2008: 104-107.
3. Hasle H, Niemeyer CM. Advances in the prognostication and management of advanced MDS in children. Br J Haematol. 2011; 154(2): 185-195.
4. Göhring G, Michalova K, Beverloo HB, et al. Complex karyotype newly defined: The strongest prognostic factor in advanced childhood myelodysplastic syndrome. Blood. 2010; 116(19): 3766-3769.
5. Hirabayashi S, Flotho C, Moetter J, et al; European Working Group of MDS in Childhood. Spliceosomal gene aberrations are rare, coexist with oncogenic mutations, and are unlikely to exert a driver effect in childhood MDS and JMML. Blood. 2012; 119(11): E96-e99.
6. Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011; 364(26): 2496-2506.
7. Malcovati L, Papaemmanuil E, Ambaglio I, et al. Driver somatic mutations identify distinct disease entities within myeloid neoplasms with myelodysplasia. Blood. 2014; 124(9): 1513-1521.
8. 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(2): 179-188.
9. Owen C, Barnett M, Fitzgibbon J. Familial myelodysplasia and acute myeloid leukaemia-A review. Br J Haematol. 2008; 140(2): 123-132.
10. Ripperger T, Steinemann D, Göhring G, et al. A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: Can these families serve as a multistep model for leukemic transformation? Leukemia. 2009; 23(7): 1364-1366.
11. Song WJ, Sullivan MG, Legare RD, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet. 1999; 23(2): 166-175.
12. Smith ML, Cavenagh JD, Lister TA, Fitzgibbon J. Mutation of CEBPA in familial acute myeloid leukemia. N Engl J Med. 2004; 351(23): 2403-2407.
13. Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011; 43(10): 1012-1017.
14. Hsu AP, Sampaio EP, Khan J, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011; 118(10): 2653-2655.
15. Dickinson RE, Griffin H, Bigley V, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011; 118(10): 2656-2658.
16. Pasquet M, Bellanné-Chantelot C, Tavitian S, et al. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 2013; 121(5): 822-829.
17. 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(10): 929-931.
18. Micol JB, Abdel-Wahab O. Collaborating constitutive and somatic genetic events in myeloid malignancies: ASXL1 mutations in patients with germline GATA2 mutations. Haematologica. 2014; 99(2): 201-203.
19. Hirabayashi SSB, Niemeyer CM, Wlodarski MW. Unexpected high frequency of GATA2 mutations in children with non-familial MDS and monosomy 7. Blood. 2012; 120(21): 1699.
20. Doré LC, Chlon TM, Brown CD, White KP, Crispino JD. Chromatin occupancy analysis reveals genome-wide GATA factor switching during hematopoiesis. Blood. 2012; 119(16): 3724-3733.
21. Linnemann AK, O'Geen H, Keles S, Farnham PJ, Bresnick EH. Genetic framework for GATA factor function in vascular biology. Proc Natl Acad Sci USA. 2011; 108(33): 13641-13646.
22. Tsai FY, Keller G, Kuo FC, et al. An early haematopoietic defect in mice lacking the transcription factor GATA-2. Nature. 1994; 371(6494): 221-226.
23. Rodrigues NP, Janzen V, Forkert R, et al. Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood. 2005; 106(2): 477-484.
24. Ling KW, Ottersbach K, van Hamburg JP, et al. GATA-2 plays two functionally distinct roles during the ontogeny of hematopoietic stem cells. J Exp Med. 2004; 200(7): 871-882.
25. Bresnick EH, Katsumura KR, Lee HY, Johnson KD, Perkins AS. Master regulatory GATA transcription factors: Mechanistic principles and emerging links to hematologic malignancies. Nucleic Acids Res. 2012; 40(13): 5819-5831.
26. Tsai FY, Orkin SH. Transcription factor GATA-2 is required for proliferation/survival of early hematopoietic cells and mast cell formation, but not for erythroid and myeloid terminal differentiation. Blood. 1997; 89(10): 3636-3643.
27. Lim KC, Hosoya T, Brandt W, et al. Conditional Gata2 inactivation results in HSC loss and lymphatic mispatterning. J Clin Invest. 2012; 122(10): 3705-3717.
28. Zhang SJ, Ma LY, Huang QH, et al. Gain-offunction mutation of GATA-2 in acute myeloid transformation of chronic myeloid leukemia. Proc Natl Acad Sci USA. 2008; 105(6): 2076-2081.
29. Hou HA, Lin YC, Kuo YY, et al. GATA2 mutations in patients with acute myeloid leukemia-paired samples analyses show that the mutation is unstable during disease evolution. Ann Hematol. 2015; 94(2): 211-221.
30. Celton M, Forest A, Gosse G, et al. Epigenetic regulation of GATA2 and its impact on normal karyotype acute myeloid leukemia. Leukemia. 2014; 28(8): 1617-1626.
31. Greif PA, Dufour A, Konstandin NP, et al. GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia. Blood. 2012; 120(2): 395-403.
32. 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(5): 937-951.
33. Mir MA, Kochuparambil ST, Abraham RS, et al. Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. Cancer Med. 2015; 4(4): 490-499.
34. Forbes SA, Beare D, Gunasekaran P, et al. COSMIC: Exploring the world's knowledge of somatic mutations in human cancer. Nucleid Acids Research. 2014; 43(D1): D805-D811.
35. Zhang MY, Keel SB, Walsh T, et al. Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica. 2015; 100(1): 42-48.
36. Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: A protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014; 123(6): 809-821.
37. Persons DA, Allay JA, Allay ER, et al. Enforced expression of the GATA-2 transcription factor blocks normal hematopoiesis. Blood. 1999; 93(2): 488-499.
38. Ikonomi P, Rivera CE, Riordan M, Washington G, Schechter AN, Noguchi CT. Overexpression of GATA-2 inhibits erythroid and promotes megakaryocyte differentiation. Exp Hematol. 2000; 28(12): 1423-1431.
39. Niimi K, Kiyoi H, Ishikawa Y, et al. GATA2 zinc finger 2 mutation found in acute myeloid leukemia impairs myeloid differentiation. Leuk Res Rep. 2013; 2(1): 21-25.
40. Hsu AP, Johnson KD, Falcone EL, et al. GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Blood. 2013; 121(19): 3830-3837.
41. Wozniak RJ, Boyer ME, Grass JA, Lee Y, Bresnick EH. Context-dependent GATA factor function: Combinatorial requirements for transcriptional control in hematopoietic and endothelial cells. J Biol Chem. 2007; 282(19): 14665-14674.
42. Johnson KD, Hsu AP, Ryu MJ, et al. Cis-element mutated in GATA2-dependent immunodeficiency governs hematopoiesis and vascular integrity. J Clin Invest. 2012; 122(10): 3692-3704.
43. Grossman J, Cuellar-Rodriguez J, Gea-Banacloche J, et al. Nonmyeloablative allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Biol Blood Marrow Transplant. 2014; 20(12): 1940-1948.