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

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

Alain Sarasin  1 , Samuel Quentin  2   3   4 , Nathalie Droin  5   6 , Mourad Sahbatou  7 , Véronique Saada  8 , Nathalie Auger  8 , Yannick Boursin  9 , Philippe Dessen  9 , Anna Raimbault  2   3   4 , Vahid Asnafi  10 , Jean-Luc Schmutz  11 , Alain Taïeb  12 , Carlos F M Menck  13 , Filippo Rosselli  1 , Laurianne Drieu La Rochelle  14 , Caroline Robert  15 , Flore Sicre de Fontbrune  4   16 , Marie Sébert  4   17 , Thierry Leblanc  18 , Patricia Kannouche  1 , Stéphane De Botton  6 , Eric Solary  5   6 , Jean Soulier  2   3   4
Affiliations

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

Alain Sarasin et al. Blood. .

Abstract

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

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Conflict of interest statement

Conflict-of-interest disclosure: The authors declare no competing financial interests.

Figures

Figure 1.
Figure 1.
Germline genetics and clonal evolution in patients with XP-C with MDS and leukemia. (A) Bone marrow progression in patient #5 (XP924VI) showing clonal evolution. Chromosomal abnormalities and somatic point mutations are shown. (B) Copy number and allele heterozygosity analysis of the bone marrow MDS-EB1 sample showing deletion 5q and 7q (arrows) in patient #5. WES data were analyzed using the FACETS tool; total copy number log-ratio (logR; upper); allele-specific log-odds-ratio data (logOR; middle); corresponding integer (total, minor) copy number calls (bottom). The estimated cellular fraction (cf) profile is plotted at the bottom. (C) Minimal common region of germinal homozygosity in 3p25 including the XPC gene (yellow arrow), as shown by the analysis of single nucleotide polymorphism array data in the 5 patients with available fibroblast cell DNA (Affymetrix array) and confirmed using WES data (Illumina). Data are shown using the Genome Wide SNP6 Array and the Chromosome Analysis Suite. Loss of heterozygosity segments on chromosome 3 (top); minimal region of homozygosity as mapped by patient XP10VI and XP309VI, on the left and right sides (genomic position on chr3: 11 092 104 and 14 285 238, using hg19 reference, NM_00628.4), respectively (bottom).
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References

    1. Kraemer KH, Sarasin A. Xeroderma pigmentosum. In: Elder DE, Massi D, Scolyer RA, Willemze R, eds. WHO Classification of Skin Tumours, 4th ed Lyon, France: IARC Press; 2018:386-387.
    1. Hanawalt PC, Spivak G. Transcription-coupled DNA repair: two decades of progress and surprises. Nat Rev Mol Cell Biol. 2008;9(12):958-970. - PubMed
    1. Bradford PT, Goldstein AM, Tamura D, et al. . Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet. 2011;48(3):168-176. - PMC - PubMed
    1. Soufir N, Ged C, Bourillon A, et al. . A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa. J Invest Dermatol. 2010;130(6):1537-1542. - PubMed
    1. Desandes E, Lacour B, Belot A, et al. . Cancer incidence and survival in adolescents and young adults in France, 2000-2008. Pediatr Hematol Oncol. 2013;30(4):291-306. - PubMed

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