Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

European Journal of Human Genetics

Volumn 26, Issue 8, 2018, Pages 1217-1221

  Masliah Planchon, Julien ^a   Lévy, Dominique ^a   Héron, Delphine ^b   Giuliano, Fabienne ^c   Badens, Catherine ^d   Fréneaux, Paul ^a   Galmiche, Louise ^e   Guinebretierre, Jean Marc ^a   Cellier, Cécile ^a   Waterfall, Joshua J ^a   Aït Raïs, Khadija ^a   Pierron, Gaëlle ^a   Glorion, Christophe ^e   Desguerre, Isabelle ^e   Soler, Christine ^c   Deville, Anne ^c   Delattre, Olivier ^a   Michon, Jean ^a   Bourdeaut, Franck ^a  

^a INSTITUT CURIE   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^d TIMONE HOSPITAL   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; ETOPOSIDE; HELICASE; IFOSFAMIDE; METHOTREXATE; TRANSCRIPTIONAL REGULATOR ATRX; TRYPTOPHAN; ATRX PROTEIN, HUMAN;

ADULT; ALPHA THALASSEMIA; ARTICLE; BEHAVIOR DISORDER; CANCER COMBINATION CHEMOTHERAPY; CANCER REGRESSION; CANCER RISK; CASE REPORT; CAUSE OF DEATH; CHILD; CHROMOSOME 10Q; CHROMOSOME 13; CHROMOSOME 14Q; CHROMOSOME 2Q; CHROMOSOME 3P; CHROMOSOME 4; CHROMOSOME 5P; CHROMOSOME 6Q; CHROMOSOME 8P; CHROMOSOME 8Q; CHROMOSOME ARM; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CRYPTORCHISM; DEVELOPMENTAL DELAY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; DRUG MEGADOSE; FACE DYSMORPHIA; FAMILY HISTORY; FEEDING DIFFICULTY; FEMORAL NECK; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC VARIATION; HISTOPATHOLOGY; HUMAN; HUMERUS; LEG AMPUTATION; LUNG METASTASIS; LUNG NODULE; MALE; MEDICAL HISTORY; MENTAL DEFICIENCY; MICROCEPHALY; ONCOGENE; OSTEOSARCOMA; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RECESSIVE INHERITANCE; RISK FACTOR; SCHOOL CHILD; SEQUENCE ANALYSIS; THORACOTOMY; TIBIA; TREATMENT RESPONSE; X LINKED ALPHA THALASSEMIA MENTAL RETARDATION; BONE TUMOR; COMPLICATION; FEMALE; GENETICS; GERMLINE MUTATION; PATHOLOGY; PEDIGREE; X LINKED MENTAL RETARDATION;

ALPHA-THALASSEMIA; BONE NEOPLASMS; CHILD; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; OSTEOSARCOMA; PEDIGREE; X-LINKED NUCLEAR PROTEIN;

EID: 85046069124     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/s41431-018-0147-x     Document Type: Article

References (21)

1. Kleinerman RA, Tucker MA, Tarone RE, et al. Risk of new cancers after radiotherapy in long-term survivors of retinoblastoma: an extended follow-up. J Clin Oncol. 2005;23:2272–9.
2. Hicks MJ, Roth JR, Kozinetz CA, Wang LL. Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome. J Clin Oncol. 2007;25:370–5.
3. McIntyre JF, Smith-Sorensen B, Friend SH, et al. Germline mutations of the p53 tumor suppressor gene in children with osteosarcoma. J Clin Oncol. 1994;12:925–30.
4. Gokgoz N, Wunder JS, Mousses S, Eskandarian S, Bell RS, Andrulis IL. Comparison of p53 mutations in patients with localized osteosarcoma and metastatic osteosarcoma. Cancer. 2001;92:2181–9.
5. Gibbons RJ, Wilkie AO, Weatherall DJ, Higgs DR. A newly defined X linked mental retardation syndrome associated with alpha thalassaemia. J Med Genet. 1991;28:729–33.
6. Ji J, Quindipan C, Parham D et al. Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma. Am J Med Genet A. 2017. 10.1002/ajmg.a.38184
7. Smolle MA, Heitzer E, Geigl JB et al. A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma. Pediatr Blood Cancer. 2017;64:e26522. 10.1002/pbc.26522.
8. Badens C, Lacoste C, Philip N, et al. Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome. Clin Genet. 2006;70:57–62.
9. Ottaviani G, Jaffe N. The epidemiology of osteosarcoma. Cancer Treat Res. 2009;152:3–13.
10. Rothermundt C, Seddon BM, Dileo P, et al. Follow-up practices for high-grade extremity Osteosarcoma. BMC Cancer. 2016;16:301.
11. Gibbons RJ, Wada T, Fisher CA, et al. Mutations in the chromatin-associated protein ATRX. Hum Mutat. 2008;29:796–802.
12. Cancer Genome Atlas Research Network. Comprehensive, integrative genomic analysis of diffuse lower-grade gliomas. N Engl J Med. 2015;372:2481–98.
13. Chen X, Bahrami A, Pappo A, et al. Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. Cell Rep. 2014;7:104–12.
14. Cardoso C, Lutz Y, Mignon C, et al. ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein. J Med Genet. 2000;37:746–51.
15. Picketts DJ, Higgs DR, Bachoo S, Blake DJ, Quarrell OW, Gibbons RJ. ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Hum Mol Genet. 1996;5:1899–907.
16. Heaphy CM, de Wilde RF, Jiao Y, et al. Altered telomeres in tumors with ATRX and DAXX mutations. Science. 2011;333:425.
17. Clynes D, Gibbons RJ. ATRX and the replication of structured DNA. Curr Opin Genet Dev. 2013;23:289–94.
18. Cancer Genome Atlas Research Network. Integrated genomic characterization of endometrial carcinoma. Nature. 2013;497:67–73.
19. Li YY, Hanna GJ, Laga AC, Haddad RI, Lorch JH, Hammerman PS. Genomic analysis of metastatic cutaneous squamous cell carcinoma. Clin Cancer Res. 2015;21:1447–56.
20. George J, Lim JS, Jang SJ, et al. Comprehensive genomic profiles of small cell lung cancer. Nature. 2015;524:47–53.
21. Pugh TJ, Morozova O, Attiyeh EF, et al. The genetic landscape of high-risk neuroblastoma. Nat Genet. 2013;45:279–84.