RAMB Maio/Junho 2015

104 / 108

Giacomazzi CR et al.
288 Rev Assoc Med Bras 2015; 61(3):282-289
16. Malkin D. Li-Fraumeni syndrome. Genes Cancer. 2011; 2(4):475-84.
17. Hisada M, Garber JE, Fung CY, Fraumeni JF, Li FP. Multiple primary
cancers in families with Li-Fraumeni syndrome. J Natl Cancer Inst. 1998;
90(8):606-11.
18. Trkova M, Hladikova M, Kasal P, Goetz P, Sedlacek Z. Is there anticipation
in the age at onset of cancer in families with Li-Fraumeni syndrome? J Hum
Genet. 2002; 47(8):381-6.
19. Varley JM. Germline TP53 mutations and Li-Fraumeni syndrome. Hum
Mutat. 2003; 21(3):313-20.
20. Wang QE, Zhu Q, Wani MA, Wani G, Chen J, Wani AA. Tumor suppressor
p53 dependent recruitment of nucleotide excision repair factors XPC and
TFIIH to DNA damage. DNA Repair (Amst). 2003; 2(5):483-99.
21. Cohen RJ, Curtis RE, Inskip PD, Fraumeni JF Jr. The risk of developing
second cancers among survivors of childhood soft tissue sarcoma. Cancer.
2005; 103(11):2391-6.
22. Lalloo F, Varley J, Ellis D, Moran A, O’Dair L, Pharoah P, et al. Prediction
of pathogenic mutations in patients with early-onset breast cancer by family
history. Lancet. 2003; 361(9363):1101-2.
23. Garber JE, Offit K. Hereditary cancer predisposition syndromes. J Clin Oncol.
2005; 23:(2)276-92.
24. 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(1):21-5.
25. Piovezan G. Prevalência do alelo TP53 R337H no Estado do Paraná.
[Dissertation]. Curitiba: Universidade Federal do Paraná, 2006.
26. 2Giacomazzi J, Graudenz MS, Osorio CABT, 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(6):e99893.
27. Giacomazzi J, Koehler-Santos P, Palmero EI, Graudenz MS, Rivero LF, Lima
E, et al. A TP53 founder mutation, p.R337H, is associated with phyllodes
breast tumors in Brazil. Virchows Arch. 2013; 463(1):17-22.
28. 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(5):1298-1304.
29. Hettmer S, Archer NM, Somers GR, Novokmet A, Wagers AJ, Diller L, et al.
Anaplastic rhabdomyosarcoma in TP53 germline mutation carriers. Cancer.
2014; 120(7):1068-75.
30. Eeles RA: Germline mutations in the TP53 gene. Cancer Surv. 1995; 25:101-24.
31. Frebourg T, Abel A, Bonaiti-Pellie C, Brugières L, Berthet P, Bressac-de
Paillerets B, et al. [Li-Fraumeni syndrome: update, new data and guidelines
for clinical management]. Bull Cancer. 2001; 88(6):581-7.
32. 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(26):e108-9.
33. Lindor NM, McMaster ML, Lindor CJ, Greene MH; National Cancer Institute
DoCP, Community Oncology and Prevention Trials Research Group. Concise
handbook of familial cancer susceptibility syndromes - second edition. J
Natl Cancer Inst Monogr. 2008; (38):1-93.
34. International Agency for Research on Cancer (IARC). IARCTP53 Database.
Available from: .
35. 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(8):535-8.
36. Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM,
Tricker KJ, et al. Germ-line mutations of TP53 in Li-Fraumeni families: an
extended study of 39 families. Cancer Res. 1997; 57(15):3245-52.
37. Petitjean A, Achatz MI, Borresen-Dale AL, Hainaut P, Olivier M. TP53
mutations in human cancers: functional selection and impact on cancer
prognosis and outcomes. Oncogene. 2007; 26(15):2157-65.
38. Shlien A, Baskin B, Achatz MI, Stavropoulos DJ, Nichols KE, Hudgins L,
et al. A common molecular mechanism underlies two phenotypically
distinct 17p13.1 microdeletion syndromes. Am J Hum Genet. 2010;
87(5):631-42.
39. Gonzalez KD, Buzin CH, Noltner KA, Gu D, Li W, Malkin D, et al. High
frequency of de novo mutations in Li-Fraumeni syndrome. J Med Genet.
2009; 46(10):689-93.
40. Villani A, Tabori U, Schiffman J, Shlien A, Beyene J, Druker H, et al.
Biochemical and imaging surveillance in germline TP53 mutation carriers
with Li-Fraumeni syndrome: a prospective observational study. Lancet Oncol.
2011; 12(6):559-67.
síndrome de Li-Fraumeni-like e câncer pediátrico. Todos
os artigos publicados entre 1990 e 2014 usando essas pa-
lavras-chave foram recuperados e revisados.
Conclusão: apesar de LFS/LFL ser considerada uma doen-
ça rara, ela parece ser mais frequente em certas regiões.
Reconhecer os critérios e condutas para identificação de
pacientes em risco para LFS/LFL é fundamental para o
manejo adequado dos pacientes com câncer hereditários
e suas famílias. Devido à complexidade dessas síndromes,
a abordagem multidisciplinar deve ser realizada. Pedia-
tras e oncologistas pediátricos em áreas com alta preva-
lência de síndromes hereditárias de câncer têm um papel
central no reconhecimento e encaminhamento adequa-
do dos pacientes e famílias para programas de avaliação
do risco de câncer genético e de gestão.
Palavras-chave: síndrome de Li-Fraumeni, neoplasias, ge-
nes p53, aconselhamento genético, TP53.
References
1. Little J. Epidemiology of Childhood Cancer. Lyon: IARC Scientific
Publications, International Agency for Research on Cancer, 1999.
2. Surveillance, Epidemiology and End Results (SEER) 2012. Available from:
3. Parkin DM, Stiller CA, Draper GJ, Bieber CA. The international incidence
of childhood cancer. Int J Cancer. 1988; 42(4):511-20.
4. da Silva DB, Pires MMS, Nassar SM. Registro de câncer de base populacional:
uma proposta para a apresentação dos dados pediátricos brasileiros. Rev
Bras Cancerol. 1997; 43(2):133-7.
5. Ries LAG, Smith MA, Gurney JG, Linet M, Tamra T, Young JL, et al. Cancer
incidence and survival among children and adolescents: United States SEER
Program 1975-1995 , National Cancer Institute, SEER Program. NIH Pub.
No. 99-4649. Bethesda, MD, 1999.
6. Instituto Nacional do Câncer. Estimativa 2012. Incidência do Câncer no
Brasil. Available / .
7. Teplick A, Kowalski M, Biegel JA, Nichols KE. Educational paper: screening
in cancer predisposition syndromes: guidelines for the general pediatrician.
Eur J Pediatr. 2011; 170(3):285-94.
8. 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(24):4341-9.
9. Li FP, Fraumeni JF Jr. Rhabdomyosarcoma in children: epidemiologic study
and identification of a familial cancer syndrome. J Natl Cancer Inst. 1969;
43(6):1365-73.
10. 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:(18)5358-62.
11. Nichols KE, Malkin D, Garber JE, Fraumeni JF Jr, Li FP. Germ-line p53
mutations predispose to a wide spectrum of early-onset cancers. Cancer
Epidemiol Biomarkers Prev. 2001; 10(2):83-7.
12. Wong P, Verselis SJ, Garber JE, Schneider K, DiGianni L, Stockwell DH, et
al. Prevalence of early onset colorectal cancer in 397 patients with classic
Li-Fraumeni syndrome. Gastroenterology. 2006; 130(1):73-9.
13. Malkin D, Li FP, Strong LC, Fraumeni JF Jr, Nelson CE, KimDH, et al. Germ
line p53 mutations in a familial syndrome of breast cancer, sarcomas, and
other neoplasms. Science. 1990; 250(4985):1233-8.
14. Strong LC, Stine M, Norsted TL. Cancer in survivors of childhood soft tissue
sarcoma and their relatives. J Natl Cancer Inst. 1987; 79(6):1213-20.
15. Lustbader ED, Williams WR, Bondy ML, Strom S, Strong LC. Segregation
analysis of cancer in families of childhood soft-tissue-sarcoma patients. Am
J Hum Genet. 1992; 51(2):344-56.