title: TP53 alterations in primary and secondary Sézary syndrome: A diagnostic tool for the assessment of malignancy in patients with erythroderma.
abstract: Recent massive parallel sequencing data have evidenced the genetic diversity and complexity of Sézary syndrome mutational landscape with TP53 alterations being the most prevalent genetic abnormality. We analyzed a cohort of 35 patients with SS and a control group of 8 patients with chronic inflammatory dermatoses. TP53 status was analyzed at different clinical stages especially in 9 patients with a past-history of mycosis fungoides (MF), coined secondary SS. TP53 mutations were only detected in 10 patients with either primary or secondary SS (29%) corresponding to point mutations, small insertions and deletions which were unique in each case. Interestingly, TP53 mutations were both detected in sequential unselected blood mononuclear cells and in skin specimens. Cytogenetic analysis of blood specimens of 32 patients with SS showed a TP53 deletion in 27 cases (84%). Altogether 29 out of 35 cases exhibited TP53 mutation and/or deletion (83%). No difference in prognosis was observed according to TP53 status while patients with secondary SS had a worse prognosis than patients with primary SS. Interestingly, patients with TP53 alterations displayed a younger age and the presence of TP53 alteration at initial diagnosis stage supports a pivotal oncogenic role for TP53 mutation in SS as well as in erythrodermic MF making TP53 assessment an ancillary method for the diagnosis of patients with erythroderma as patients with inflammatory dermatoses did not display TP53 alteration.
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.|Tumor Bank and Tumor Biology Laboratory, CHU de Bordeaux, Pessac, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Gros
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.|Tumor Bank and Tumor Biology Laboratory, CHU de Bordeaux, Pessac, France.
authors.forename: Elodie
authors.initials: E
authors.lastname: Laharanne
authors.affiliation: Tumor Bank and Tumor Biology Laboratory, CHU de Bordeaux, Pessac, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Vergier
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.
authors.forename: Martina
authors.initials: M
authors.lastname: Prochazkova-Carlotti
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.|Dermatology Department, CHU de Bordeaux, Bordeaux, France.
authors.forename: Anne
authors.initials: A
authors.lastname: Pham-Ledard
authors.affiliation: Tumor Bank and Tumor Biology Laboratory, CHU de Bordeaux, Pessac, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Bandres
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.
authors.forename: Sandrine
authors.initials: S
authors.lastname: Poglio
authors.affiliation: Tumor Bank and Tumor Biology Laboratory, CHU de Bordeaux, Pessac, France.
authors.forename: Sabine
authors.initials: S
authors.lastname: Berhouet
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.|Pathology Department, CHU de Bordeaux, Pessac, France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Vergier
authors.affiliation: Hematology Laboratory, CHU de Bordeaux, Pessac, France.
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Vial
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.
authors.forename: Edith
authors.initials: E
authors.lastname: Chevret
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.|Dermatology Department, CHU de Bordeaux, Bordeaux, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Beylot-Barry
authors.affiliation: INSERM U1053, Bordeaux Research in Translational Oncology University Bordeaux, Bordeaux, France.|Tumor Bank and Tumor Biology Laboratory, CHU de Bordeaux, Pessac, France.
authors.forename: Jean-Philippe
authors.identifier: http://orcid.org/0000-0002-0305-0850
authors.initials: JP
authors.lastname: Merlio
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D015331:Cohort Studies; D056915:DNA Copy Number Variations; D003873:Dermatitis, Exfoliative / Q000150:complications*; D005260:Female; D005434:Flow Cytometry; D016158:Genes, p53; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012751:Sezary Syndrome / Q000150:complications / Q000235:genetics*; D012878:Skin Neoplasms / Q000150:complications / Q000235:genetics*