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2015; 61(3):282-289
ARTIGO DE REVISÃO
Pediatric cancer and Li-Fraumeni/Li-Fraumeni-like syndromes:
a review for the pediatrician
C
ristina
R
ossi
G
iacomazzi
1
, J
uliana
G
iacomazzi
2
*, C
ristina
B.O. N
etto
3
, P
atricia
S
antos
-S
ilva
4
, S
imone
G
eiger
S
elistre
5
,
A
na
L
uiza
M
aia
6
, V
iviane
Z
iebell
de
O
liveira
7
, S
uzi
A
lves
C
amey
8
, J
osé
R
oberto
G
oldim
9
, P
atricia
A
shton
-P
rolla
10
1
MD – Resident physician, Pediatric Service, Hospital da Criança Santo Antônio (HCSA), Complexo Hospitalar Santa Casa, Porto Alegre, RS, Brazil
2
BSc, MSc, PhD – Biomedical, Regional Oncology Center and Hospitalar Epidemiology and Research Core, Hospital Tacchini, Bento Gonçalves, RS, Brazil
3
MD, PhD – Geneticist, Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil
4
RN, MSc – Oncology Service, HCPA, Porto Alegre, RS, Brazil
5
MD, MSc – Pediatric oncologist, Pediatric Oncology Service, HCPA,Porto Alegre, RS, Brazil
6
MD, PhD – Endocrinologist, Endocrinology Service, HCPA, Porto Alegre, RS, Brazil
7
Psychologist, Psychology Service, HCPA, Porto Alegre, RS, Brazil
8
PhD – Statistician, Department of Statistics, Institute of Mathematics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil
9
BSc, PhD – Biologist, Bioethics Research Laboratory, HCPA, RS, Brazil
10
MD, PhD – Geneticist, Experimental Research Center and Medical Genetics Service, HCPA, and Genetics Department, UFRGS, Porto Alegre, RS, Brazil
S
ummary
Study conducted at the Hospital de
Clínicas de Porto Alegre (HCPA), Porto
Alegre, RS, Brazil
Article received:
4/13/2014
Accepted for publication:
10/17/2014
*Correspondence:
Address: Rua José Mário Mônaco, 358
Bento Gonçalves, RS – Brazil
Postal code: 95700-000
juliana.giacomazzi@tacchini.com.br http://dx.doi.org/10.1590/1806-9282.61.03.282Conflict of interest:
none
Introduction:
cancer is the second leading cause of death in children between the
ages of 0 and 14 years, corresponding to approximately 3% of all cases diagnosed
in Brazil. A significant percentage (5-10%) of pediatric cancers are associated with
hereditary cancer syndromes, including Li-Fraumeni/Li-Fraumeni-like syndromes
(LFS/LFL), both of which are caused by
TP53
germline mutations. Recent studies
have shown that a specific
TP53
mutation, known as p.R337H, is present in 1 in
300 newborns in Southern and Southeast Brazil. In addition, a significant per-
centage of children with LFS/LFL spectrum tumors in the region have a family
history compatible with LFS/LFL.
Objective:
to review clinical relevant aspects of LFS/LFL by our multidisciplinary
team with focus on pediatric cancer.
Methods:
the NCBI (PubMed) and SciELO databases were consulted using the
keywords Li-Fraumeni syndrome, Li-Fraumeni-like syndrome and pediatric can-
cer; and all manuscripts published between 1990 and 2014 using these keywords
were retrieved and reviewed.
Conclusion:
although LFS/LFL is considered a rare disease, it appears to be sub-
stantially more common in certain geographic regions. Recognition of popula-
tion-specific risks for the syndrome is important for adequate management of he-
reditary cancer patients and families. In Southern and Southeastern Brazil, LFS/
LFL should be considered in the differential diagnosis of children with cancer, es-
pecially if within the spectrum of the syndrome. Due to the complexities of these
syndromes, a multidisciplinary approach should be sought for the counseling, di-
agnosis and management of patients and families affected by these disorders. Pe-
diatricians and pediatric oncologists in areas with high prevalence of hereditary
cancer syndromes have a central role in the recognition and proper referral of pa-
tients and families to genetic cancer risk evaluation and management programs.
Keywords:
Li-Fraumeni syndrome, neoplasms, genes, p53, genetic counseling,
TP53
.