Spectrum of p53 gene mutations suggests a possible role for ultraviolet radiation in the pathogenesis of advanced cutaneous lymphomas

J Invest Dermatol. 1999 Mar;112(3):317-21. doi: 10.1046/j.1523-1747.1999.00507.x.

Abstract

There is evidence that the incidence of primary cutaneous lymphoma, like other forms of non-Hodgkin's lymphoma, is increasing, yet little is known of the pathogenetic events involved in this group of disorders. In this study we examine the frequency and spectrum of P53 gene mutations in a large series of primary cutaneous lymphomas, with particular emphasis on tumor stage mycosis fungoides, as it is in these cases that p53 overexpression has previously been reported. Sixty-six samples from 55 patients with primary cutaneous B cell and T cell lymphomas were analyzed for mutations in exons 5-9 of the P53 gene using polymerase chain reaction/single strand conformational polymorphism, and subsequent cloning and sequencing of genomic DNA. Fourteen separate P53 mutations were identified in blood, skin, and lymph node samples in 13 patients (24%). Twelve of 14 mutations occurred at dipyrimidine sites, eight resulting in C-->T transitions and one in a CC-->TT tandem base transition, a mutation spectrum strikingly similar to that reported in nonmelanoma skin cancer and characteristic of DNA damage caused by ultraviolet B radiation. In the subset of patients with mycosis fungoides, P53 mutations were identified in six of 17 patients with tumor-stage but in none of 12 patients with plaque-stage disease (Fisher's exact test p = 0.027). These data suggest a role for ultraviolet radiation in the pathogenesis of primary cutaneous lymphomas and a possible ultraviolet B-related step in the progression of mycosis fungoides from plaque to tumor-stage disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genes, p53 / genetics*
  • Humans
  • Lymphoma / etiology*
  • Lymphoma / genetics*
  • Lymphoma / metabolism
  • Male
  • Mutation / physiology*
  • Polymerase Chain Reaction
  • Polymorphism, Single-Stranded Conformational
  • Pyrimidine Dimers / metabolism
  • Skin Neoplasms / etiology*
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / metabolism
  • Ultraviolet Rays / adverse effects*

Substances

  • Pyrimidine Dimers