Occurrence of neuroblastoma among TP53 p.R337H carriers

PLoS ONE

Volumn 10, Issue 10, 2015, Pages

  Seidinger, Ana Luiza ^a   Fortes, Fernanda Paschoal ^a   Mastellaro, Maria José ^a   Cardinalli, Izilda Aparecida ^a   Zambaldi, Lilian Girotto ^a   Aguiar, Simone Santos ^a,b   Yunes, José Andrés ^a,b  

^a Boldrini's Children Center   (Brazil)

^b UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALLELE; ARTICLE; CANCER STAGING; CARCINOGENESIS; CHILD; CHILDHOOD CANCER; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC SCREENING; GERMLINE MUTATION; HETEROZYGOSITY LOSS; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; NEUROBLASTOMA; SINGLE NUCLEOTIDE POLYMORPHISM; TP53 GENE; TUMOR SUPPRESSOR GENE; GENETICS; HETEROZYGOTE; INCIDENCE; MUTATION; PRESCHOOL CHILD; PROGNOSIS;

ALLELES; CHILD, PRESCHOOL; FEMALE; GENES, P53; HETEROZYGOTE; HUMANS; INCIDENCE; MALE; MUTATION; NEUROBLASTOMA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS;

EID: 84948706389     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0140356     Document Type: Article

References (57)

1. Vogelstein B, Lane D, Levine AJ. Surfing the p53 network. Nature. 2000;408:307-10. PMID: 11099028
2. Li FP, Fraumeni JF Jr. Soft tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann InternMed. 1969;71:747-752.
3. Li FP, Fraumeni JF Jr, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA, et al. A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988;48:5358-5362. PMID: 3409256
4. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, Kim DH, et al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science. 1990;250:1233-1238. PMID: 1978757
5. Srivastava S, Zou ZQ, Pirollo K, Blattner W, Chang EH. Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome. Nature. 1990;348:747-749. PMID: 2259385
6. Eeles RA, Bartkova J, Lane DP, Bartek J. The role of TP53 in breast cancer development. CancerSurv. 1993;18:57-75.
7. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, et al. Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families. Cancer Res. 1994;54:1298-304. PMID: 8118819
8. Eeles RA. Germline mutations in the TP53 gene in breast and other cancers, University of London 2000.
9. Chompret A, Abel A, Stoppa-Lyonnet D, Brugiéres L, Pagés S, Feunteun J, et al. Sensitivity and predictive value of criteria for p53 germline mutation screening. J Med Genet. 2001;38:43-47. PMID: 11332399
10. Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, et al. Molecular basis of the Li-Fraumeni syndrome: An update from the French LFS families. J Med Genet. 2008;45:535-538. doi:10.1136/jmg.2008.057570 PMID: 18511570
11. Tinat J, Bougeard G, Baert-Desurmont S, Vasseur S, Martin C, Bouvignies E, et al. 2009 Version of the Chompret criteria for Li Fraumeni syndrome. J Clin Oncol. 2009;27:e108-e109, author reply e110.
12. Malkin D. Li-fraumeni syndrome. Genes Cancer 2011;2:475-484. doi: 10.1177/1947601911413466 PMID: 21779515
13. Bougeard G, Renaux-Petel M, Flaman JM, Charbonnier C, Fermey P, Belotti M, et al. Revisiting Li-Fraumeni syndrome from TP53 mutation carriers. J Clin Oncol. 2015;33:2345-52. doi: 10.1200/JCO.2014.59.5728 PMID: 26014290
14. Palmero EI, Schüler-Faccini L, Caleffi M, Achatz MI, Olivier M, Martel-Planche G, et al. Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Cancer Lett. 2008;261:21-25. doi: 10. 1016/j.canlet.2007.10.044 PMID: 18248785
15. Custódio G, Parise GA, Kiesel Filho N, Komechen H, Sabbaga CC, Rosati R, et al. Impact of neonatal screening and surveillance for the TP53 R337H mutation on early detection of childhood adrenocortical tumors. J Clin Oncol. 2013;31:2619-2626. doi: 10.1200/JCO.2012.46.3711 PMID: 23733769
16. Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, Lafferty AR, et al. An inherited p53 mutation that contributes in a tissue-specific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA. 2001;98:9330-9335. PMID: 11481490
17. Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, et al. The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett. 2007;245:96-102. PMID: 16494995
18. Assumpçao JG, Seidinger AL, Mastellaro MJ, Ribeiro RC, Zambetti GP, Ganti R, et al. Association of the germline TP53 R337H mutation with breast cancer in southern Brazil. BMC Cancer. 2008;8:357. doi: 10.1186/1471-2407-8-357 PMID: 19046423
19. Seidinger AL, Mastellaro MJ, Fortes FP, Assumpçao JG, Cardinalli IA, Ganazza MA, et al. Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in southeast Brazil. Cancer. 2011;117:2228-2235. doi: 10.1002/cncr.25826 PMID: 21192060
20. Custodio G, Taques GR, Figueiredo BC, Gugelmin ES, Oliveira Figueiredo MM, Watanabe F, et al. Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil. PLoSOne. 2011;6:e18015. doi: 10.1371/journal.pone.0018015 PMID: 21445348
21. Giacomazzi J, Koehler-Santos P, Palmero EI, Graudenz MS, Rivero LF, Lima E, et al. ATP53 founder mutation, p. R337H, is associated with phyllodes breast tumors in Brazil. Virchows Arch. 2013;463:17-22. doi: 10.1007/s00428-013-1439-8 PMID: 23794094
22. Giacomazzi J, Selistre SG, Rossi C, Alemar B, Santos-Silva P, Pereira FS, et al. Li-Fraumeni and Li-Fraumeni-like syndrome among children diagnosed with pediatric cancer in Southern Brazil. Cancer. 2013;119:4341-4349. doi: 10.1002/cncr.28346 PMID: 24122735
23. Cury NM, Ferraz VE, Silva WA Jr. TP53 p. R337H prevalence in a series of Brazilian hereditary breast cancer families. Hered CancerClin Pract. 2014;12:8. doi: 10.1186/1897-4287-12-8 PMID: 24625245
24. Giacomazzi J, Graudenz MS, Osorio CA, Koehler-Santos P, Palmero EI, Zagonel-Oliveira M, et al. Prevalence of the TP53 p. R337H mutation in breast cancer patients in Brazil. PLoS One. 2014;9:e99893. doi: 10.1371/journal.pone.0099893 PMID: 24936644
25. Brodeur GM, Hogarty MD, Mosse YP, Maris JM. Neuroblastoma. In: Pizzo PA, PoplackDG (editors). Principles and practice of pediatric oncology. 6th ed. Philadelphia: Lippincott Williams & Wilkins; 2011. p. 886-922.
26. Birch JM, Alston RD, McNally RJ, Evans DG, Kelsey AM, Harris M, et al. Relative frequency and morphology of cancers in carriers of germline TP53 mutations. Oncogene. 2001;20:4621-4628. PMID: 11498785
27. Diskin SJ, Capasso M, Diamond M, Oldridge DA, Conkrite K, Bosse KR, et al. Rare variants in TP53 and susceptibility to neuroblastoma. J Natl Cancer Inst. 2014;106:dju047. doi: 10.1093/jnci/dju047 PMID: 24634504
28. Stacey SN, Sulem P, Jonasdottir A, Masson G, Gudmundsson J, Gudbjartsson DF, et al. A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet. 2011;43:1098-1103. doi: 10.1038/ng.926 PMID: 21946351
29. Brodeur GM, Pritchard J, Berthold F, Carlsen NL, Castel V, Castelberry RP, et al. Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment. J Clin Oncol. 1993;11:1466-1477. PMID: 8336186
30. Shimada H, Chatten J, Newton WA Jr, Sachs N, Hamoudi AB, Chiba T, et al. Histopathologic prognostic factors in neuroblastic tumors: definition of subtypes of ganglioneuroblastomaand an age-linked classification of neuroblastomas. J Natl Cancer Inst. 1984;73:405-416. PMID: 6589432
31. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning-A Laboratory Manual Volume 2. 2ndedition. Cold Spring Harbour Laboratoy Press; 1989.
32. Imamura J, Bartram CR, Berthold F, Harms D, Nakamura H, Koeffler HP. Mutation of the p53gene in neuroblastoma and its relationship with N-myc amplification. Cancer Res. 1993;53:4053-4058. PMID: 8358734
33. Manhani R, Cristofani LM, Odone Filho V, Bendit I. Concomitant p53 mutation and MYCN amplification in neuroblastoma. Med Pediatr Oncol. 1997;29:206-207. PMID: 9212845
34. Di Giammarino EL, Lee AS, Cadwell C, Zhang W, Bothner B, Ribeiro RC, et al. A novel mechanism of tumorigenesis involving pH-dependent destabilization of a mutant p53 tetramer. Nat Struct Biol. 2002;9:12-16. PMID: 11753428
35. Maia AT, Spiteri I, Lee AJ, O'Reilly M, Jones L, Caldas C, et al. Extent of differential allelic expression of candidate breast cancer genes is similar in blood and breast. Breast Cancer Res. 2009;11:R88. doi:10.1186/bcr2458 PMID: 20003265
36. Shoemaker R, Deng J, Wang W, Zhang K. Allele-specific methylation is prevalent and is contributed by CpG-SNPs in the human genome. Genome Res. 2010;20:883-889. doi: 10.1101/gr.104695.109 PMID: 20418490
37. Sakai T, Toguchida J, Ohtani N, Yandell DW, Rapaport JM, Dryja TP. Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene. Am J Hum Genet. 1991;48:880-888. PMID: 1673287
38. Behjati S, Maschietto M, Williams RD, Side L, Hubank M, West R, et al. A pathogenic mosaic TP53 mutation in two germ layers detected by next generation sequencing. PLoS One. 2014;9:e96531. doi:10.1371/journal.pone.0096531 PMID: 24810334
39. Rossbach HC, Baschinsky D, Wynn T, Obzut D, Sutcliffe M, Tebbi C. Composite adrenal anaplastic neuroblastoma and virilizing adrenocortical tumor with germline TP53 R248W mutation. Pediatr Blood Cancer. 2008;50:681-683. PMID: 17427234
40. Malkin D, Jolly KW, Barbier N, Look AT, Friend SH, Gebhardt MC, et al. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N Engl J Med 1992;326:1309-1315. PMID: 1565144
41. Pivnick EK, Furman WL, Velagaleti GV, Jenkins JJ, Chase NA, Ribeiro RC. Simultaneous adrenocortical carcinoma and ganglioneuroblastoma in a child with Turner syndrome and germline p53 mutation. J Med Genet 1998;35:328-332. PMID: 9598730
42. Olivier M, Goldgar DE, Sodha N, Ohgaki H, Kleihues P, Hainaut P, et al. Li-Fraumeni and related syndromes: correlation between tumor type, family structure, and TP53 genotype. Cancer Res. 2003;63:6643-6650. PMID: 14583457
43. Figueiredo BC, Sandrini R, Zambetti GP, Pereira RM, Cheng C, Liu W, et al. Penetrance of adrenocortical tumours associated with the germline TP53 R337H mutation. J Med Genet. 2006;43:91-96. PMID: 16033918
44. Da Silva EM, Achatz MI, Martel-Planche G, Montagnini AL, Olivier M, Prolla PA, et al. TP53 mutation p. R337H in gastric cancer tissues of a 12-year-old male child: evidence for chimerism involving a common mutant founder haplotype: case report. BMC Cancer. 2011;11:449. doi: 10.1186/1471-2407-11-449 PMID: 22004116
45. Carr-Wilkinson J, O'Toole K, Wood KM, Challen CC, Baker AG, Board JR, et al. High frequency of p53/MDM2/p14ARF pathway abnormalities in relapsed neuroblastoma. Clin Cancer Res. 2010;16:1108-1118. doi: 10.1158/1078-0432. CCR-09-1865 PMID: 20145180
46. Cattelani S, Ferrari-Amorotti G, Galavotti S, Defferrari R, Tanno B, Cialfi S, et al. The p53 codon 72 Pro/Pro genotype identifies poor-prognosis neuroblastoma patients: correlation with reduced apoptosis and enhanced senescence by the p53-72P isoform. Neoplasia. 2012;14:634-643. PMID: 22904680
47. Feinberg-Gorenshtein G, Avigad S, Jeison M, Halevy-Berco G, Mardoukh J, Luria D, et al. Reduced levels of miR-34a in neuroblastoma are not caused by mutations in the TP53 binding site. Genes Chromosomes Cancer. 2009;48:539-543. doi: 10.1002/gcc.20662 PMID: 19373781
48. Komuro H, Hayashi Y, Kawamura M, Hayashi K, Kaneko Y, Kamoshita S, et al. Mutations of the p53 gene are involved in Ewing's sarcomas but not in neuroblastomas. Cancer Res. 1993;53:5284-5288. PMID: 8221663
49. Vogan K, Bernstein M, Leclerc JM, Brisson L, Brossard J, Brodeur GM, et al. Absence of p53 gene mutations in primary neuroblastomas. Cancer Res. 1993;53:5269-5273. PMID: 8221661
50. Hosoi G, Hara J, Okamura T, Osugi Y, Ishihara S, Fukuzawa M, et al. Low frequency of the p53gene mutations in neuroblastoma. Cancer. 1994;73:3087-3093. PMID: 8200007
51. Castresana JS, Bello MJ, Rey JA, Nebreda P, Queizán A, García-Miguel P, et al. NoTP53 mutations in neuroblastomas detected by PCR-SSCP analysis. Genes Chromosomes Cancer. 1994;10:136-138. PMID: 7520267
52. Pugh TJ, Morozova O, Attiyeh EF, Asgharzadeh S, Wei JS, Auclair D, et al. The genetic landscape of high-risk neuroblastoma. Nat Genet. 2013;45:279-284. doi: 10.1038/ng.2529 PMID: 23334666
53. Ohgaki H, Eibl RH, Schwab M, Reichel MB, Mariani L, Gehring M, et al. Mutations of the p53 tumor suppressor gene in neoplasms of the human nervous system. MolCarcinog. 1993;8:74-80. PMID: 8397797
54. Kusafuka T, Fukuzawa M, Oue T, Komoto Y, Yoneda A, Okada A. Mutation analysis of p53gene in childhood malignant solid tumors. J PediatrSurg. 1997;32:1175-1180. PMID: 9269965
55. Omura-Minamisawa M, Diccianni MB, Chang RC, Batova A, Bridgeman LJ, Schiff J, et al. p16/p14 (ARF) cell cycle regulatory pathways in primary neuroblastoma: p16 expression is associated with advanced stage disease. Clin Cancer Res. 2001;7:3481-3490. PMID: 11705866
56. Courtney R, Ranganathan S. Simultaneous adrenocortical carcinoma and neuroblastoma in an infant with a novel germline p53 mutation. J Pediatr Hematol Oncol. 2015;37:215-218. doi: 10.1097/MPH. 0000000000000281 PMID: 25374282
57. Porter DE, Holden ST, Steel CM, Cohen BB, Wallace MR, Reid R. A significant proportion of patients with osteosarcoma may belong to Li-Fraumeni cancer families. J Bone Joint Surg Br. 1992;74:883-886. PMID: 1447251