Thrombocytopenia with absent radii (TAR) syndrome: from hemopoietic progenitor to mesenchymal stromal cell disease?

Experimental Hematology

Volumn 37, Issue 1, 2009, Pages 1-7

  Bonsi, Laura ^a   Marchionni, Cosetta ^a   Alviano, Francesco ^a   Lanzoni, Giacomo ^a   Franchina, Michele ^a   Costa, Roberta ^a   Grossi, Alberto ^a   Bagnara, Gian Paolo ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ENDOGLIN; THROMBOPOIETIN; THROMBOPOIETIN RECEPTOR; TRANSFORMING GROWTH FACTOR BETA1; TRANSFORMING GROWTH FACTOR BETA2; TRANSFORMING GROWTH FACTOR BETA3;

AUTOSOMAL RECESSIVE DISORDER; BONE DISEASE; BONE MARROW CELL; CELL DIFFERENTIATION; CELL PROLIFERATION; CHROMOSOME 1Q; CHROMOSOME DELETION; CLINICAL FEATURE; COLONY FORMATION; GENE MUTATION; HEART DEVELOPMENT; HEART DISEASE; HEMATOLOGIC DISEASE; HEMATOPOIETIC STEM CELL; HUMAN; MEGAKARYOCYTE; MESENCHYME CELL; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; RADIUS APLASIA; REVIEW; SPLENECTOMY; THROMBOCYTOPENIA; THROMBOCYTOPENIA WITH ABSENT RADIUS SYNDROME;

ABNORMALITIES, MULTIPLE; ANTIGENS, CD; BONE MARROW; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; GENE EXPRESSION REGULATION; GENETIC DISEASES, INBORN; HEMATOPOIETIC STEM CELLS; HUMANS; MEGAKARYOCYTES; RECEPTORS, CELL SURFACE; STROMAL CELLS; SYNDROME; THROMBOCYTOPENIA; THROMBOPOIETIN; TRANSFORMING GROWTH FACTOR BETA;

EID: 57549083058     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.exphem.2008.09.004     Document Type: Review

References (43)

1. Bernhard W.G., Gore I., and Kilby R.A. Congenital leukemia. Blood 6 (1951) 990-1001
2. Hall J.G., Levin J., and Kuhn J.P. Thrombocytopenia with absent radius. Medicine 18 (1969) 411-439
3. Edelberg S., Cohn J., and Brandt N. Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of radius-the TAR syndrome: intra-family variation of the clinical picture. Hum Hered 27 (1977) 147-152
4. Hedberg V.A., and Lipton J.M. Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol 10 (1988) 51-64
5. Urban M., Opitz C., Bommer C., Enders H., Tinschert S., and Witkowski R. Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. Am J Med Genet 79 (1998) 155-160
6. Alter B., and Young N. The bone marrow failure syndrome. In: Nathan D., and Oski F. (Eds). Hematology of Infancy and Childhood (1993), WB Saunders, Philadelphia 216
7. Hall J.G. Thrombocytopenia and absent radius (TAR) syndrome. J Med Genet 24 (1987) 79-83
8. Whitfields M., and Barr D.G. Cow's milk allergy in the syndrome of thrombocytopenia with absent radii. Arch Dis Child 51 (1976) 337-343
9. Skorka A., Bielicka-Cymermann J., Gieruszczak-Bialek D., and Korniszewski L. Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of the corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. Genet Couns 16 (2005) 377-382
10. nd ed. (2003), Lippincott Williams & Wilkins, Philadelphia 209-272
11. Ballmaier M., Schulze H., Strauss G., et al. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood 90 (1997) 612-619
12. Sekine I., Hagiwara T., Miyazaki H., et al. Thrombocytopenia with absent radii syndrome: studies on serum thrombopoietin levels and megakaryopoiesis in vitro. J Pediatr Hematol Oncol 20 (1998) 74-78
13. al-Jefri A.H., Dror Y., Bussel J.B., and Freedman M.H. Thrombocytopenia with absent radii: frequency of marrow megakaryocyte progenitors, proliferative characteristics, and megakaryocyte growth and development factor responsiveness. Pediatr Hematol Oncol 17 (2000) 299-306
14. Letestu R., Vitrat N., Massé A., et al. Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood 95 (2000) 1633-1641
15. Homans A.C., Cohen J.L., and Mazur E.M. Defective megakaryocytopoiesis in the syndrome of thrombocytopenia with absent radii. Br J Haematol 70 (1988) 205-210
16. Bartley T.D., Bogenberger J., Hunt P., et al. Identification and cloning of a megakaryocyte growth and development factor that is a ligand for the cytokine receptor. Mpl. Cell 77 (1994) 1117-1124
17. Broudy V.C., and Kaushansky K. Biology of thrombopoietin. Curr Opin Pediatr 10 (1998) 60-64
18. Bonsi L., Grossi A., Strippoli P., et al. An erythroid and megakaryocytic common precursor cell line (B1647) expressing both c-mpl and erythropoietin receptor (Epo-R) proliferates and modifies globin chain synthesis in response to megakaryocyte growth and development factor (MGDF) but not to erythropoietin (Epo). Br J Haematol 98 (1997) 549-559
19. Brizzi M.F., Battaglia E., Rosso A., et al. Regulation of polymorphonuclear cell activation by thrombopoietin. J Clin Invest 99 (1997) 1576-1584
20. Vigon I., Mornon J.P., Cocault L., et al. Molecular cloning and characterization of MPL, the human homolog of the v-mpl oncogene: identification of a member of the hematopoietic growth factor receptor superfamily. PNAS 89 (1992) 5640-5644
21. Vigon I., Florindo C., Fichelson S., et al. Characterization of the murine MPL proto-oncogene, a member of the hemopoietic cytokine receptor family: molecular cloning, chromosomal location and evidence for a function in cell growth. Oncogene 8 (1993) 2607-2615
22. Ballmaier M., Schulze H., Cremer M., Folman C.C., Strauss G., and Welte K. Defective c-Mpl signaling in the syndrome of thrombocytopenia with absent radii. Stem Cells 16 Suppl 2 (1998) S177-S184
23. Strauss G., Ballmaier M., Schulze H., Bogenberger J., Riehm H., and Welte K. Significance of thrombopoietin and its receptor c-Mpl in regulation of thrombocytopoiesis in thrombocytopenia. Klin Padiatr 208 (1996) 168-171
24. De Alarcon P.A., Graeve J.A., Levine R.F., McDonald T.P., and Beal D.W. Thrombocytopenia and absent radii syndrome: defective megakaryocytopoiesis-thrombocytopoiesis. Am J Pediatr Hematol Oncol 13 (1991) 77-83
25. Strippoli P., Savoia A., and Iolascon. A, et al. Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR). Br J Haematol 103 (1998) 311-314
26. Fleischman R.A., Letestu R., Mi X., et al. Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome. Br J Haematol 116 (2002) 367-375
27. Christiansen J., Dyck J.D., Elyas B.G., et al. Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease. Circ Res 94 (2004) 1429-1435
28. Klopocki E., Schulze H., Strauss G., et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet 80 (2007) 232-240
29. Noma T., Glick A.B., Geiser A.G., et al. Molecular cloning and structure of the human transforming growth factor-beta 2 gene promoter. Growth Factors 4 (1991) 247-255
30. Pelton R.W., Saxena B., Jones M., Moses H.L., and Gold L.I. Immunohistochemical localization of TGF beta 1, TGF beta 2, TGF beta 3 in the mouse embryo: expression pattern suggests multiple roles during embryonic development. J Cell Biol 115 (1991) 1091-1105
31. Shull M.M., Ormsby I., Kier A.B., et al. Targeted disruption of the mouse transforming growth factor-beta 1 gene results in multifocal inflammatory disease. Nature 359 (1992) 693-699
32. Sanford P.L., Ormsby I., Gittenberger-de Groot A.C., et al. TGFb2 Knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes. Development 124 (1997) 2659-2670
33. nd Annual Scientific Meeting of the International Society for Experimental Hematology, Paris, France, July 5-8, 2003.
34. Marchionni C, Tonelli R, Pantucci E, et al. Mutational screening of transforming growth factor beta 2 (TGF-beta 2) gene in patients with congenital thrombocytopaenia with absent radii (TAR). Proceedings of the VI Convegno Nazionale I.N.B.B. Napoli, November 4-6, 2004.
35. Pierdomenico L., Bonsi L., Calvitti M., et al. Multipotent mesenchymal stem cells with immunosuppressive activity can be easily isolated from dental pulp. Transplantation 80 (2005) 836-842
36. Alviano F., Fossati V., Marchionni C., et al. Term Amniotic membrane is a high throughput source for multipotent Mesenchymal Stem Cells with the ability to differentiate into endothelial cells in vitro. BMC Dev Biol 7 (2007) 11
37. Sanz-Rodriguez F., Guerrero-Esteo M., Botella L.M., Banville D., Vary C.P., and Bernabéu C. Endoglin regulates cytoskeletal organization through binding to ZRP-1, a member of the Lim family of proteins. J Biol Chem 279 (2004) 32858-32868
38. Llorca O., Trujillo A., Blanco F.J., and Bernabeu C. Structural model of human endoglin, a transmembrane receptor responsible for hereditary hemorrhagic telangiectasia. J Mol Biol 365 (2007) 694-705
39. Michalevicz R., Baron S., and Burstein Y. Osteoclast-like cells grow in cultures of multipotent hematopoietic progenitors in thrombocytopenia and absent radii (TAR) syndrome. Isr J Med Sci 24 (1988) 42-45
40. Dominici M., Pritchard C., Garlits J.E., Hofmann T.J., Persons D.A., and Horwitz E.M. Hematopoietic cells and osteoblasts are derived from a common marrow progenitor after bone marrow transplantation. Proc Natl Acad Sci U S A 101 (2004) 11761-1176
41. Bussel J.B., Kuter D.J., George J.N., et al. AMG 531, a thrombopoiesis-stimulating protein, for chronic ITP. N Engl J Med 19 355 (2006) 1672-1681
42. Kantarjian H., Fenaux P., Sekeres M.A., et al. Phase 1/2 Study of AMG 531 in thrombocytopenic patients (PTS) with low-risk myelodysplastic syndrome (MDS): Update including extended treatment. Blood (ASH Annual Meeting Abstracts) 110 (2007) 250
43. Bussel J.B., Cheng G., Saleh M.N., et al. Eltrombopag for the treatment of chronic idiopathic thrombocytopenic purpura. N Engl J Med 29 357 (2007) 2237-2247