Inherited thrombocytopenias: The evolving spectrum

Hamostaseologie

Volumn 32, Issue 4, 2012, Pages 259-270

  Balduini, C L ^a   Pecci, A ^a   Noris, P ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

ANKRD26 related thrombocyto penia; Bleeding disorders; Inherited thrombocytopenias; MYH9 related disease

Indexed keywords

MYOSIN HEAVY CHAIN; MYOSIN HEAVY CHAIN 9; THROMBOCYTE CONCENTRATE; THROMBOPOIETIN; UNCLASSIFIED DRUG;

ALGORITHM; BLEEDING; GENOTYPE PHENOTYPE CORRELATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; MEGAKARYOCYTE; PATHOGENESIS; REVIEW; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA;

ANTICOAGULANTS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; PEPTIDES; PLATELET TRANSFUSION; THROMBOCYTOPENIA;

EID: 84873574524     PISSN: 07209355     EISSN: None     Source Type: Journal    
DOI: 10.5482/ha12050001     Document Type: Review

References (75)

1. Balduini CL, Pecci A, Savoia A. Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. Br J Haematol 2011; 154: 161-174.
2. Noris P, Perrotta S, Seri M et al. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011; 117: 6673-6680.
3. Pippucci T, Savoia A, Perrotta S et al. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011; 88: 115-120.
4. The May-Hegglin/Fechtner Syndrome Consortium. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. Nat Genet 2000; 26: 103-105.
5. Jackson SC, Sinclair GD, Cloutier S et al. The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. Blood 2009; 113: 3348-3351.
6. Rees DC, Iolascon A, Carella M et al. Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol 2005; 130: 297-309.
7. Savoia A, Balduini CL, Savino M et al. Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. Blood 2001; 97: 1330-1335.
8. Noris P, Pecci A, Di Bari F et al. Application of a diagnostic algorithm for inherited thrombocytopenias to 46 consecutive patients. Haematologica 2004; 89: 1219-1225.
9. Balduini CL, Cattaneo M, Fabris F et al. Inherited thrombocytopenias: proposal of a diagnostic algorithm by the Italian "Gruppo di studio delle piastrine". Haematologica 2003; 88: 582-592.
10. Savoia A, Pastore A, De Rocco D et al. Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica 2011; 96: 417-423.
11. Noris P, Perrotta S, Bottega R et al. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation). Haematologica 2012; 97: 82-88.
12. Thon JN, Italiano JE. Platelet formation. Semin Hematol 2010; 47: 220-226.
13. Ciovacco WA, Raskind WH, Kacena MA. Human phenotypes associated with GATA-1 mutations. Gene 2008; 427: 1-6.
14. Balduini CL, Pecci A, Loffredo G et al. Effects of the R216Q mutation of GATA-1 on erythropoiesis and megakaryocytopoiesis. Thromb Haemost 2004; 91: 129-140.
15. Balduini A, Malara A, Balduini CL et al. Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro. Platelets 2011; 22: 308-311.
16. Balduini A, Malara A, Pecci A et al. Proplatelet formation in heterozygous Bernard-Soulier syndrome type Bolzano. J Thromb Haemost 2009; 7: 478-484.
17. Pecci A, Malara A, Badalucco S et al. Megakaryocytes of patients with MYH9-related thrombocytopenia present an altered proplatelet formation. Thromb Haemost 2009; 102: 90-96.
18. Geddis AE. Congenital amegakaryocytic thrombocytopenia. Pediatr Blood Cancer 2011; 57: 199-203.
19. Castillo-Caro P, Dhanraj S, Haut P et al. Proximal radio-ulnar synostosis with bone marrow failure syndrome in an infant without a HOXA11 mutation. J Pediatr Hematol Oncol 2010; 32: 479-485.
20. Liew E, Owen C. Familial myelodysplastic syndromes: a review of the literature. Haematologica 2011; 96: 1536-1542.
21. Geddis AE, Balduini CL. Diagnosis of immune thrombocytopenic purpura in children. Current Opinion Hematol 2007; 14: 520-525.
22. Noris P, Klersy C, Zecca M et al. Platelet size distinguishes between inherited macrothrombocytopenias and immune thrombocytopenia. J Thromb Haemost 2009; 7: 2131-2136.
23. Pecci A, Gresele P, Klersy C et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. Blood 2010; 116: 5832-5837.
24. Pai SY, DeMartiis D, Forino C et al. Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation. Bone Marrow Transplant 2006; 38: 671-679.
25. Locatelli F, Rossi G, Balduini C. Hematopoietic stem-cell transplantation for the Bernard-Soulier syndrome. Ann Intern Med 2003; 138: 79.
26. Kelley MJ, Jawien W, Ortel TL et al. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 2000; 26: 106-108.
27. Kunishima S, Kojima T, Matsushita T et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 2001; 97: 1147-1149.
28. Seri M, Pecci A, Di Bari F 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: 203-215.
29. Heath KE, Campos-Barros A, Toren A et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. Am J Hum Genet 2001; 69: 1033-1045.
30. Sellers JR. Myosins: a diverse superfamily. Biochim Biophys Acta 2000; 1496: 3-22.
31. Niederman R, Pollard, TD. Human platelet myosin. II. In vitro assembly and structure of myosin filaments. J Cell Biol 1975; 67: 72-92.
32. Ronen D, Ravid S. Myosin II tailpiece determines its paracrystal structure, filament assembly properties, and cellular localization. J Biol Chem 2009; 284: 24948-24957.
33. Pecci A, Canobbio I, Balduini A et al. Pathogenetic mechanisms of haematological abnormalities of patients with MYH9 mutations. Hum Mol Genet 2005; 14: 3169-3178.
34. Chang Y, Auradé F, Larbret F et al. Proplatelet formation is regulated by the Rho/ROCK pathway. Blood 2007; 109: 4229-4236.
35. Chen Z, Naveiras O, Balduini A et al. The May-Hegglin anomaly gene Myh9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood 2007; 100: 171-179.
36. Balduini A, Pallotta I, Malara A et al. Adhesive receptors, extracellular proteins, and myosin IIA orchestrate proplatelet formation by human megakaryocytes. J Thromb Haemost 2008; 6: 1900-1907.
37. Eckly A, Strassel C, Freund M et al. Abnormal megakaryocyte morphology and proplatelet formation in mice with megakaryocyte-restricted MYH9 inactivation. Blood 2009; 113: 3182-3189.
38. Larson MK, Watson SP. A product of their environment: do megakaryocytes rely on extracellular cues for proplatelet formation? Platelets 2006; 17: 435-440.
39. Conti MA, Even-Ram S, Liu C et al. Defects in cell adhesion and the visceral endoderm following ablation of non-muscle myosin heavy chain II-A in mice. J Biol Chem 2004; 279: 41263-41266.
40. Zhang Y, Conti MA, Malide D et al. Mouse models of MYH9-related disease: mutations in non-muscle myosin II-A. Blood 2012; 119: 238-250.
41. Pecci A, Bozzi V, Panza E et al. Mutations responsible for MYH9-related thrombocytopenia impair SDF-1-driven migration of megakaryoblastic cells. Thromb Haemost 2011; 106: 693-704.
42. Savoia A, De Rocco D, Panza E 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: 826-832.
43. Pecci A, Panza E, Pujol-Moix N et al. Position of non-muscle myosin heavy chain IIA (NMMHCIIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 2008; 29: 409-417.
44. Dong F, Li S, Pujol-Moix N et al. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol 2005; 130: 620-627.
45. Ghiggeri GM, Caridi G, Magrini U et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of non-muscle myosin IIA (Fechtner syndrome). Am J Kidney Dis 2003; 41: 95-104.
46. Pecci A, Granata A, Fiore CE et al. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant 2008; 23: 2690-2692.
47. Sekine T, Konno M, Sasaki S et al. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int 2010; 78: 207-214.
48. Han KH, Lee H, Kang HG et al. Renal manifestations of patients with MYH9-related disorders. Pediatr Nephrol 2011; 26: 549-555.
49. De Rocco D, Pujol-Moix N, Pecci A et al. Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene. Eur J Med Genet 2009; 52: 191-194.
50. Pecci A, Noris P, Invernizzi R et al. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol 2002; 117: 164-167.
51. Kunishima S, Matsushita T, Yoshihara T et al. First description of somatic mosaicism in MYH9 disorders. Br J Haematol 2005; 128: 360-365.
52. Pecci A, Panza E, De Rocco D et al. MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype. Eur J Haematol 2010; 84: 291-297.
53. Canobbio I, Noris P, Pecci A et al. Altered cytoskeleton organization in platelets from patients with MYH9-related disease. J Thromb Haemost 2005; 3: 1026-1035.
54. Liumbruno G, Bennardello F, Lattanzio A et al. Recommendations for the transfusion of plasma and platelets. Blood Transfus 2009; 7: 132-150.
55. Savoia A, Del Vecchio M, Totaro A et al. An autosomal dominant thrombocytopenia gene maps to chromosomal region 10p. Am J Hum Genet 1999; 65: 1401-1405.
56. Drachman JG, Jarvik GP, Mehaffey MG. Z Autosomal dominant thrombocytopenia: incomplete megakaryocyte differentiation and linkage to human chromosome 10. Blood 2000; 96: 118-125
57. Gandhi MJ, Cummings CL, Drachman JG. FLJ14813 missense mutation: a candidate for autosomal dominant thrombocytopenia on human chromosome 10. Hum Hered 2003; 55: 66-70.
58. Punzo F, Mientjes EJ, Rohe CF et al. A mutation in the acyl-coenzyme A binding domain containing protein 5 gene (ACBD5) identified in autosomal dominant thrombocytopenia. J Thromb Haemost 2010; 8: 2085-2087.
59. Hahn Y, Bera TK, Pastan IH et al. Duplication and extensive remodeling shaped POTE family genes encoding proteins containing ankyrin repeat and coiled coil domains. Gene 2006; 66: 238-245.
60. Bera TK, Liu XF, Yamada M et al. A model for obesity and gigantism due to disruption of the Ankrd26 gene. Proc Natl Acad Sci USA 2008; 105: 270-275.
61. Raciti GA, Bera TK, Gavrilova O et al. Partial inactivation of Ankrd26 causes diabetes with enhanced insulin responsiveness of adipose tissue in mice. Diabetologia 2011; 54: 2911-2922.
62. Wheeler DA, Srinivasan M, Egholm M et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 2008; 452: 872-876.
63. Mardis E, Ding L, Dooling DJ et al. Recurrent mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med 2009; 361: 1058-1066.
64. Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009; 4: 9.
65. Gunay-Aygun M, Zivony-Elboum Y, Gumruk F et al. Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. Blood 2010; 116: 4990-5001.
66. Kahr WH, Hinckley J, Li L et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet 2011; 43: 738-740.
67. Gunay-Aygun M, Falik-Zaccai TC, Vilboux T et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet a-granules. Nat Genet 2011; 43: 732-734.
68. Albers CA, Cvejic A, Favier R et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet 2011; 43: 735-737.
69. Hamilton A, Ozelo M, Leggo J et al. Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study. Thromb Haemost 2011; 105: 501-508.
70. Gresele P, Falcinelli E, Giannini S et al. Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Haematologica 2009; 94: 663-669.
71. Kunishima S, Kobayashi R, Itoh TJ et al. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood 2009; 113: 458-461.
72. Nurden P, Debili N, Coupry I et al. Thrombo -cytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome. Blood 2011; 118: 5928-5937.
73. Albers CA, Paul DS, Schulze H et al. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome. Nat Genet 2012; 44: 435-439.
74. Morison IM, Cramer Bordé EM, Cheesman EJ et al. A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. Nat Genet 2008; 40: 387-389.
75. Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol 2008; 15: 30-36.