Perforin-1 does not appear to be associated with familial hematological malignancies. - Archive ouverte HAL Access content directly
Journal Articles Hereditary Cancer in Clinical Practice Year : 2011

Perforin-1 does not appear to be associated with familial hematological malignancies.

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Ilia Voskoboinik
  • Function : Author
  • PersonId : 912521
Halima Omri
  • Function : Author
  • PersonId : 912522
Mohamed Adnene Laatiri
  • Function : Author
  • PersonId : 912524
Paul Gesta
  • Function : Author
  • PersonId : 912528
Liliane Demange
  • Function : Author
  • PersonId : 912529
Hélène Dreyfus
  • Function : Author
  • PersonId : 912530
Valérie Bonadona
  • Function : Author
  • PersonId : 912531
Catherine Dugast
  • Function : Author
  • PersonId : 907540
Hélène Zattara
  • Function : Author
  • PersonId : 912532

Abstract

ABSTRACT: Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated. The variants detected in the PRF1 coding region amounted to 3.7% (3/81). Two of the three variants identified were previously described: the p.Ala91Val pathogenic mutation and the p.Asn252Ser polymorphism. A new p.Ala 211Val missense substitution was identified in two related Tunisian patients. In order to assess the pathogenicity of this new variation, bioinformatic tools were used to predict its effects on the perforin protein structure and at the mRNA level. The segregation of the mutant allele was studied in the family of interest and a control population was screened. The fact that this variant was not found to occur in 200 control chromosomes suggests that it may be pathogenic. However, overexpression of mutated PRF1 in rat basophilic leukemia cells did not affect the lytic function of perforin differently from the wild type protein.
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inserm-00634278 , version 1 (20-10-2011)

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Rim El Abed, Violaine Bourdon, Ilia Voskoboinik, Halima Omri, Yosra Ben Youssef, et al.. Perforin-1 does not appear to be associated with familial hematological malignancies.. Hereditary Cancer in Clinical Practice, 2011, 9 (1), pp.9. ⟨10.1186/1897-4287-9-9⟩. ⟨inserm-00634278⟩
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