Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum

Alain Sarasin; Samuel Quentin; Nathalie Droin; Mourad Sahbatou; Véronique Saada; Nathalie Auger; Yannick Boursin; Philippe Dessen; Anna Raimbault; Vahid Asnafi; Jean-Luc Schmutz; Alain Taïeb; Carlos F M Menck; Filippo Rosselli; Laurianne Drieu La Rochelle; Caroline Robert; Flore Sicre de Fontbrune; Marie Sébert; Thierry Leblanc; Patricia Kannouche; Stéphane De Botton; Eric Solary; Jean Soulier

doi:10.1182/blood-2019-01-895698

Familial predisposition to TP53/complex karyotype MDS and leukemia in DNA repair-deficient xeroderma pigmentosum

Blood. 2019 Jun 20;133(25):2718-2724. doi: 10.1182/blood-2019-01-895698. Epub 2019 Mar 26.

Authors

Alain Sarasin¹, Samuel Quentin^{2

3

4}, Nathalie Droin^{5

6}, Mourad Sahbatou⁷, Véronique Saada⁸, Nathalie Auger⁸, Yannick Boursin⁹, Philippe Dessen⁹, Anna Raimbault^{2

3

4}, Vahid Asnafi¹⁰, Jean-Luc Schmutz¹¹, Alain Taïeb¹², Carlos F M Menck¹³, Filippo Rosselli¹, Laurianne Drieu La Rochelle¹⁴, Caroline Robert¹⁵, Flore Sicre de Fontbrune^{4

16}, Marie Sébert^{4

17}, Thierry Leblanc¹⁸, Patricia Kannouche¹, Stéphane De Botton⁶, Eric Solary^{5

6}, Jean Soulier^{2

3

4}

Affiliations

¹ Laboratory of Genetic Instability and Oncogenesis, Unité Mixte de Recherche 8200 Centre National de la Recherche Scientifique, University Paris-Sud and Gustave Roussy, Villejuif, France.
² Institut National de la Santé et de la Recherche Médicale/CNRS U944/7212 and University Paris Diderot, University of Paris, France.
³ Hematology Laboratory, Saint-Louis Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.
⁴ Centre de référence Maladies Rares des Aplasies médullaires, Hôpital Saint-Louis et Robert Debré, Paris, France.
⁵ INSERM U1170, Gustave Roussy, Université Paris-Sud, Villejuif, France.
⁶ Gustave Roussy, Université Paris-Saclay, Département d'hématologie, Villejuif, France.
⁷ Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain, Paris, France.
⁸ Département de biologie et pathologie médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
⁹ Bioinformatics Core Facility, Gustave Roussy, Villejuif, France.
¹⁰ Institut Necker-Enfants Malades, INSERM U1151, Paris, France.
¹¹ Department of Dermatology, Nancy University Hospital, Vandoeuvre-Lès-Nancy, France.
¹² Department of Dermatology, Bordeaux University Hospitals, and INSERM U1035, University of Bordeaux, Bordeaux, France.
¹³ Institute of Biomedical Sciences, University of Sao Paulo, Sao Paulo, Brazil.
¹⁴ Service d'Hématologie, CHU de Tours, Tours, France.
¹⁵ Department of Dermatology, Gustave Roussy, Villejuif, France.
¹⁶ Hematology/Transplantation and.
¹⁷ Hématologie Senior, Hôpital Saint-Louis, Paris, France; and.
¹⁸ Pédiatrie hématologique, Hôpital Robert Debré, Paris, France.

Abstract

There is a Blood Commentary on this article in this issue.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Abnormal Karyotype
Adolescent
Adult
Child
DNA Repair / genetics
DNA-Binding Proteins / genetics
Female
Founder Effect
Genes, p53 / genetics
Genetic Predisposition to Disease / genetics*
Humans
Leukemia / genetics*
Male
Mutation
Myelodysplastic Syndromes / genetics*
Tumor Suppressor Protein p53 / genetics
Xeroderma Pigmentosum / complications
Xeroderma Pigmentosum / genetics*
Young Adult

Substances

DNA-Binding Proteins
TP53 protein, human
Tumor Suppressor Protein p53
XPC protein, human

Supplementary concepts

Xeroderma Pigmentosum, Complementation Group C