Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia

References

• Kelley MJ, Jawien W, Ortel TL, Korczak JF. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 2000;26(1):106–108. doi:10.1038/79069.
   PubMed Web of Science ®Google Scholar
• Kunishima S, Kojima T, Matsushita T, Tanaka T, Tsurusawa M, Furukawa Y, et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 2001;97(4):1147–1149.
   PubMed Web of Science ®Google Scholar
• Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000;26(1):103–105.
   PubMed Web of Science ®Google Scholar
• Hodge T, Cope MJ. A myosin family tree. J Cell Sci 2000;113(Pt 19):3353–3354.
   PubMed Web of Science ®Google Scholar
• Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011;154(2):161–174.
   PubMed Web of Science ®Google Scholar
• Eddinger TJ, Meer DP. Myosin II isoforms in smooth muscle: heterogeneity and function. Am J Physiol Physiol 2007;293(2):C493–C508.
   PubMed Web of Science ®Google Scholar
• Savoia A, De Rocco D, Pecci A. MYH9 gene mutations associated with bleeding. Platelets 2017;28(3):312–315.
   PubMed Web of Science ®Google Scholar
• Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, et al. MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014;35(2):236–247.
   PubMed Web of Science ®Google Scholar
• Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008;29(3):409–417.
   PubMed Web of Science ®Google Scholar
• Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, et al. Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost 2010;103(4):826–832. doi:10.1160/TH09-08-0593.
   PubMed Web of Science ®Google Scholar
• Althaus K, Greinacher A. MYH9-related platelet disorders. Semin Thromb Hemost 2009;35(2):189–203.
   PubMed Web of Science ®Google Scholar
• Gohda F, Uchiumi H, Handa H, Matsushima T, Tsukamoto N, Morita K, et al. Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia. Thromb Res 2007;119(6):741–746.
   PubMed Web of Science ®Google Scholar
• Bader-Meunier B, Proulle V, Trichet C, Debray D, Gabolde M, Yvart J, et al. Misdiagnosis of chronic thrombocytopenia in childhood. J Pediatr Hematol Oncol 2003;25(7):548–552.
   PubMed Web of Science ®Google Scholar
• Kunishima S, Matsushita T, Kojima T, Sako M, Kimura F, Jo EK, et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. Lab Invest 2003;83(1):115–122.
   PubMed Web of Science ®Google Scholar
• Kuter DJ, Bussel JB, Newland A, Baker RI, Lyons RM, Wasser J, et al. Long-term treatment with romiplostim in patients with chronic immune thrombocytopenia: safety and efficacy. Br J Haematol 2013;161(3):411–423.
   PubMed Web of Science ®Google Scholar
• Saleh MN, Bussel JB, Cheng G, Meyer O, Bailey CK, Arning M, et al. Safety and efficacy of eltrombopag for treatment of chronic immune thrombocytopenia: results of the long-term, open-label EXTEND study. Blood 2013;121(3):537–545.
   PubMed Web of Science ®Google Scholar
• Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17(5):405–424.
   PubMed Web of Science ®Google Scholar
• Margaglione M, D’Andrea G, Grandone E, Brancaccio V, Amoriello A, Di Minno G. Compound heterozygosity (554–589 del, C515-T transition) in the platelet glycoprotein Ib alpha gene in a patient with a severe bleeding tendency. Thromb Haemost 1999;81(4):486–492.
   PubMed Web of Science ®Google Scholar
• Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols 2009;4(7):1073–1081.
   PubMed Web of Science ®Google Scholar
• Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010;7(4):248–249.
   PubMed Web of Science ®Google Scholar
• Schwarz JM, Rodelsperger C, Schuelke M, MutationTaster SD. evaluates disease-causing potential of sequence alterations. Nat Methods 2010;7(8):575–576.
   PubMed Web of Science ®Google Scholar
• Noris P, Biino G, Pecci A, Civaschi E, Savoia A, Seri M, et al. Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. Blood 2014;124(6):e4–e10.
   PubMed Web of Science ®Google Scholar
• Noris P, Pecci A, Di BF, Di SMT, Di PM, If C, et al. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica 2004;89(10):1219–1225.
   PubMed Web of Science ®Google Scholar
• Noris P, Klersy C, Zecca M, Arcaini L, Pecci A, Melazzini F, et al. Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia. J Thromb Haemostasis 2009;7(12):2131–2136.
   PubMed Web of Science ®Google Scholar
• Han KH, Lee H, Kang HG, Moon KC, Lee JH, Park YS, et al. Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol 2011;26(4):549–555.
   PubMed Web of Science ®Google Scholar
• Hussein BA, Gomez K, Kadir RA. May-Hegglin anomaly and pregnancy: a systematic review. Blood Coagul Fibrinolysis 2013;24(5):554–561.
   PubMed Web of Science ®Google Scholar
• Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, et al. MYH9-related disease: may-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. Medicine 2003;82(3):203–215.
   PubMed Web of Science ®Google Scholar
• Balduini CL, Savoia A, Seri M. Inherited thrombocytopenias frequently diagnosed in adults. J Thromb Haemost 2013;11(6):1006–1019.
   PubMed Web of Science ®Google Scholar
• Noris P, Klersy C, Gresele P, Giona F, Giordano P, Minuz P, et al. Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study. Br J Haematol 2013;162(1):112–119.
   PubMed Web of Science ®Google Scholar
• Althaus K, Greinacher A. MYH-9 Related Platelet Disorders: strategies for Management and Diagnosis. Transfus Med Hemother 2010;37(5):260–267.
   PubMed Web of Science ®Google Scholar
• Ruhoy SM, Macrothrombocytopenia With YA. Dohle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease. Lab Med 2016;47(3):246–250.
   PubMed Web of Science ®Google Scholar
• Kunishima S, Yusuke O, Muramatsu H, Kojima D, Nagai N, Takahashi Y, et al. Efficacy of neutrophil non-muscle myosin heavy chain-IIA immunofluorescence analysis in determining the pathogenicity of MYH9 variants. Ann Hematol 2017;96(6):1065–1066.
   PubMed Web of Science ®Google Scholar
• Kitamura K, Yoshida K, Shiraishi Y, Chiba K, Tanaka H, Furukawa K, et al. Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders. J Thromb Haemostasis 2013;11(11):2071–2073.
   PubMed Web of Science ®Google Scholar
• Pecci A. Diagnosis and treatment of inherited thrombocytopenias. Clin Genet 2016;89(2):141–153.
   PubMed Web of Science ®Google Scholar
• Neunert C, Lim W, Crowther M, Cohen A, Solberg L Jr., Crowther MA, et al. The American Society of Hematology 2011 evidence-based practice guideline for immune thrombocytopenia. Blood 2011;117(16):4190–4207.
   PubMed Web of Science ®Google Scholar
• Bussel JB, Provan D, Shamsi T, Cheng G, Psaila B, Kovaleva L, et al. Effect of eltrombopag on platelet counts and bleeding during treatment of chronic idiopathic thrombocytopenic purpura: a randomised, double-blind, placebo-controlled trial. Lancet 2009;373(9664):641–648.
   PubMed Web of Science ®Google Scholar
• Bussel JB, Cheng G, Saleh MN, Psaila B, Kovaleva L, Meddeb B, et al. Eltrombopag for the treatment of chronic idiopathic thrombocytopenic purpura. New England J Med 2007;357(22):2237–2247.
   PubMed Web of Science ®Google Scholar
• Kuter DJ, Bussel JB, Lyons RM, Pullarkat V, Gernsheimer TB, Senecal FM, et al. Efficacy of romiplostim in patients with chronic immune thrombocytopenic purpura: a double-blind randomised controlled trial. Lancet 2008;371(9610):395–403.
   PubMed Web of Science ®Google Scholar
• Pecci A, Barozzi S. d’Amico S, Balduini CL. Short-Term Eltrombopag for Surgical Preparation of a Patient with Inherited Thrombocytopenia Deriving from MYH9 Mutation. Thrombosis & Haemostasis. 2012;107(6):1188–1189.
   Google Scholar
• Pecci A, Gresele P, Klersy C, Savoia A, Noris P, Fierro T, et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010;116(26):5832–5837.
   PubMed Web of Science ®Google Scholar
• Gropper S, Althaus K, Najm J, Haase S, Aul C, Greinacher A, et al. A patient with Fechtner syndrome successfully treated with romiplostim. Thromb Haemostasis 2012;107(3):590–591.
   PubMed Web of Science ®Google Scholar
• Cines DB, Gernsheimer T, Wasser J, Godeau B, Provan D, Lyons R, et al. Integrated analysis of long-term safety in patients with chronic immune thrombocytopaenia (ITP) treated with the thrombopoietin (TPO) receptor agonist romiplostim. Int J Hematol 2015;102(3):259–270.
   PubMed Web of Science ®Google Scholar
• Mokhtar GM, Tantawy AA, El Sherif NH. Romiplostim therapy in children with unresponsive chronic immune thrombocytopenia. Platelets 2012;23(4):264–273.
   PubMed Web of Science ®Google Scholar
• Yoon JS, Lee YJ, Baek DW, Park HY, Park BE, Moon JH, et al. New synergistic efficacy of combination of romiplostim and steroid in refractory immune thrombocytopenia patients. Korean J Intern Med 2016 Mar 7. doi:10.3904/kjim.2015.252 [Epub ahead of print]
   Google Scholar
• Gresele P, Harrison P, Bury L, Falcinelli E, Gachet C, Hayward CP, et al. Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey. J Thromb Haemostasis 2014;12(9):1562–1569.
   PubMed Web of Science ®Google Scholar