Journal article

Molecular study of the perforin gene in familial hematological malignancies

Rim El Abed, Violaine Bourdon, Ilia Voskoboinik, Halima Omri, Yosra Ben Youssef, Mohamed Adnene Laatiri, Laetitia Huiart, Francois Eisinger, Laetitia Rabayrol, Marc Frenay, Paul Gesta, Liliane Demange, Helene Dreyfus, Valerie Bonadona, Catherine Dugast, Helene Zattara, Laurence Faivre, Monia Zaier, Saloua Yacoub Jemni, Testsuro Noguchi Show all



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 s..

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Funding Acknowledgements

This work was supported by la Societe Francaise d'Hematologie, le groupe Genetique et Cancer and l'Institut National du Cancer INCa and by the Ministere de l'Enseignement Superieur et de la Recherche Scientifique in Tunisia. It was part of the GenHem INSERM/DGRS project (2010-2011). We would like to thank Valerie Delague for helpful discussions, Institut Paoli Calmettes and Pr Patrice Viens.