p53 Tumour Suppressor Gene and RAS Oncogenes: Molecular Analysis in the Chronic and Leukaemic Phases of Essential Thrombocythaemia

Br J Haematol. 1996 Jun;93(3):670-3. doi: 10.1046/j.1365-2141.1996.d01-1690.x.


A panel of 51 cases of essential thrombocythaemia (ET), in chronic or leukaemic phase, was investigated for p53 gene and RAS oncogenes mutations by PCR-SSCP-direct sequencing. No RAS oncogenes mutations were detected, but p53 mutations were identified in three cases: 1/27 cases (approximately 4%) in chronic phase not undergoing chemotherapy, 1/19 cases (approximately 5%) in chronic phase undergoing chemotherapy, and 1/5 cases (20%) which had progressed to leukaemia. Our results suggest that: (1) p53 gene mutations occur sporadically in the chronic phase of ET, independent of chemotherapy, and may contribute to the progression to the leukaemic phase in a limited number of ET patients; (2) the RAS genes family does not seem to be involved in the pathogenesis of ET, unlike other bcr/abl negative chronic myeloproliferative diseases (CMPDs).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Blotting, Southern
  • Chronic Disease
  • Female
  • Genes, Tumor Suppressor
  • Genes, p53 / genetics*
  • Genes, ras / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Polymerase Chain Reaction
  • Thrombocythemia, Essential / genetics*