Gene of the issue: RUNX1 mutations and inherited bleeding

References

• Stockley J, Morgan NV, Bem D, Lowe GC, Lordkipanidze M, Dawood B, Simpson MA, Macfarlane K, Horner K, Leo VC, et al. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. Blood 2013 Dec 12;122(25):4090–4093.
   PubMed Web of Science ®Google Scholar
• Walker LC, Stevens J, Campbell H, Corbett R, Spearing R, Heaton D, Macdonald DH, Morris CM, Ganly P. A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia. Br J Haematol 2002 Jun;117(4):878–881.
   PubMed Web of Science ®Google Scholar
• Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999 Oct;23(2):166–175.
   PubMed Web of Science ®Google Scholar
• Kamachi Y, Ogawa E, Asano M, Ishida S, Murakami Y, Satake M, Ito Y, Shigesada K. Purification of a mouse nuclear factor that binds to both the A and B cores of the polyomavirus enhancer. J Virol 1990 Oct;64(10):4808–4819.
   PubMed Web of Science ®Google Scholar
• Johnson B, Lowe GC, Futterer J, Lordkipanidze M, MacDonald D, Simpson MA, Sanchez Guiu I, Drake S, Bem D, Leo V, et al. Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica 2016 Jun 16.
   Google Scholar
• Jalagadugula G, Mao G, Kaur G, Goldfinger LE, Dhanasekaran DN, Rao AK. Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency. Blood 2010 Dec 23;116(26):6037–6045.
   PubMed Web of Science ®Google Scholar
• Hart SM, Foroni L. Core binding factor genes and human leukemia. Haematologica 2002 Dec;87(12):1307–1023.
   PubMed Web of Science ®Google Scholar
• Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi MC, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, et al. Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders. Orphanet J Rare Dis 2016 Apr 26;11:49.
   PubMed Web of Science ®Google Scholar
• Johnson B, Lowe GC, Futterer J, Lordkipanidze M, MacDonald D, Simpson MA, Sanchez-Guiu I, Drake S, Bem D, Leo V, et al. Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects. Haematologica 2016 Oct;101(10):1170–1179.
   PubMed Web of Science ®Google Scholar
• Antony-Debre I, Bluteau D, Itzykson R, Baccini V, Renneville A, Boehlen F, Morabito M, Droin N, Deswarte C, Chang Y, et al. MYH10 protein expression in platelets as a biomarker of RUNX1 and FLI1 alterations. Blood 2012 Sep 27;120(13):2719–2722.
   PubMed Web of Science ®Google Scholar
• Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM, Jackson SC, Poon MC, Sinclair GD, Leber B, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008 Dec 01;112(12):4639–4645.
   PubMed Web of Science ®Google Scholar
• Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N, Shigesada K, Ito Y, Benson KF, Raskind WH, et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002 Feb 15;99(4):1364–1372.
   PubMed Web of Science ®Google Scholar
• Beri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Gregoire MJ, Bordigoni P, Lecompte T, Leheup B, et al. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet 2008 Aug;16(8):1014–1018.
   PubMed Web of Science ®Google Scholar
• Preudhomme C, Renneville A, Bourdon V, Philippe N, Roche-Lestienne C, Boissel N, Dhedin N, Andre JM, Cornillet-Lefebvre P, Baruchel A, et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 2009 May 28;113(22):5583–5587.
   PubMed Web of Science ®Google Scholar
• Bluteau D, Gilles L, Hilpert M, Antony-Debre I, James C, Debili N, Camara-Clayette V, Wagner-Ballon O, Cordette-Lagarde V, Robert T, et al. Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia. Blood 2011 Dec 08;118(24):6310–6320.
   PubMed Web of Science ®Google Scholar
• Langabeer SE, Owen CJ, McCarron SL, Fitzgibbon J, Smith OP, O’Marcaigh A, Browne P. A novel RUNX1 mutation in a kindred with familial platelet disorder with propensity to acute myeloid leukaemia: male predominance of affected individuals. Eur J Haematol 2010 Dec;85(6):552–553.
   PubMed Web of Science ®Google Scholar
• Buijs A, Poot M, van der Crabben S, van der Zwaag B, van Binsbergen E, van Roosmalen MJ, Tavakoli-Yaraki M, de Weerdt O, Nieuwenhuis HK, van Gijn M, et al. Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees. Leukemia 2012 Sep;26(9):2151–2154.
   PubMed Web of Science ®Google Scholar
• Linden T, Schnittger S, Groll AH, Juergens H, Rossig C. Childhood B-cell precursor acute lymphoblastic leukaemia in a patient with familial thrombocytopenia and RUNX1 mutation. Br J Haematol 2010 Dec;151(5):528–530.
   PubMed Web of Science ®Google Scholar
• Heller PG, Glembotsky AC, Gandhi MJ, Cummings CL, Pirola CJ, Marta RF, Kornblihtt LI, Drachman JG, Molinas FC. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood 2005 Jun 15;105(12):4664–4670.
   PubMed Web of Science ®Google Scholar
• Appelmann I, Linden T, Rudat A, Mueller-Tidow C, Berdel WE, Mesters RM. Hereditary thrombocytopenia and acute myeloid leukemia: a common link due to a germline mutation in the AML1 gene. Ann Hematol 2009 Oct;88(10):1037–1038.
   PubMed Web of Science ®Google Scholar
• Shiba N, Hasegawa D, Park MJ, Murata C, Sato-Otsubo A, Ogawa C, Manabe A, Arakawa H, Ogawa S, Hayashi Y. CBL mutation in chronic myelomonocytic leukemia secondary to familial platelet disorder with propensity to develop acute myeloid leukemia (FPD/AML). Blood 2012 Mar 15;119(11):2612–2614.
   PubMed Web of Science ®Google Scholar
• Kirito K, Sakoe K, Shinoda D, Takiyama Y, Kaushansky K, Komatsu N. A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. Haematologica 2008 Jan;93(1):155–156.
   PubMed Web of Science ®Google Scholar
• Churpek JE, Garcia JS, Madzo J, Jackson SA, Onel K, Godley LA. Identification and molecular characterization of a novel 3’; mutation in RUNX1 in a family with familial platelet disorder. Leukemia Lymphoma 2010 Oct;51(10):1931–1935.
   PubMed Web of Science ®Google Scholar