Paris-Trousseau syndrome : clinical, hematological, molecular data of ten new cases

Thromb Haemost. 2003 Nov;90(5):893-7. doi: 10.1160/TH03-02-0120.

Abstract

Paris-Trousseau syndrome (PTS) is an inherited disorder characterized by mild hemorragic tendency associated with 11q chromosome deletion. Here we report ten new patients (5 boys, 5 girls) with complete clinical history, biological data, ultra-structural and molecular investigations. Thrombocytopenia is chronic in all the patients except two boys in whom it disappeared during the two first years of life. On Romanovsky stained peripheral blood smears, abnormal platelets with giant granules were detected in all the children and confirmed by electron microscopy (EM). On bone marrow smears, dysmegakaryopoiesis with many micromegakaryocytes was constantly observed. Abnormal alpha-granules were virtually absent from bone marrow and cultured megakaryocytes, while EM detected numerous images of granule fusion within blood platelets. Molecular analyses evidenced that the fli-1 gene is deleted in all the patients except one confirming the crucial role of the transcription factor FLI-1 in megakaryopoiesis. In summary, this study documents ten new cases of PTS with characteristic alpha-granule abnormalities, and shows the putative pathogenic role of fli-1 gene in the pathophysiology of this syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blood Platelet Disorders / etiology
  • Blood Platelet Disorders / genetics
  • Blood Platelet Disorders / pathology*
  • Blood Platelets / pathology
  • Blood Platelets / ultrastructure
  • Child, Preschool
  • Cytoplasmic Granules / pathology
  • DNA-Binding Proteins / genetics
  • Family Health
  • Female
  • Gene Deletion
  • Humans
  • Infant
  • Male
  • Microscopy, Electron
  • Proto-Oncogene Protein c-fli-1
  • Proto-Oncogene Proteins*
  • Syndrome
  • Thrombocytopenia / etiology
  • Thrombocytopenia / genetics
  • Thrombocytopenia / pathology*
  • Thrombopoiesis / genetics
  • Trans-Activators / genetics

Substances

  • DNA-Binding Proteins
  • Proto-Oncogene Protein c-fli-1
  • Proto-Oncogene Proteins
  • Trans-Activators