Tumores de plexo coróide: estudo epidemiológico comparativo de 24 casos

Torres, Luíz Fernando Bleggi; Noronha, Lúcia de; Scheffel, Darliany L. Hübner; Pinheiro, Diogo Lago; Gugelmin, Elizabeth Schneider

doi:10.1590/s0004-282x2004000100022

Cited by 3 publications

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“…According to Aguzzi et al [2], CPC affects more boys than girls (ratio 3:1), which is consistent with the present series of cases (15 boys and 7 girls). It was previously described that CPC represented 63.2% of all choroid plexus tumors in Curitiba, Brazil [8], in contrast to 8.1% (4) and 16.6% [2] in other series. This unusual higher proportion of CPC cases found in Curitiba was hypothesized to be related to an unknown pathogen [8].…”

Section: Discussionmentioning

confidence: 93%

“…In younger children, skull flexibility to accommodate an increased volume and the capacity of functional adaptation of the immature nervous system often allow CPC to reach large dimensions before being diagnosed, while older children tend to have typical signs of intracranial hypertension [8]. These authors have shown in their previous histopathologic analysis, and further confirmed by the re-evaluation of all present cases, that these tumors are characterized as either papillary or solid tumors composed of columnar or anaplastic epithelium, with signs of frank malignancy including marked nuclear pleomorphism, frequent mitosis, increased nucleus/cytoplasm ratio, high cell density, foci of necrosis and loss of demarcation between tumor cells and the surrounding brain tissue.…”

Section: Discussionmentioning

confidence: 99%

“…Twenty four of the 29 cases included in the present study (24/29, 82.7%) were investigated in a previous histopathologic analysis claiming increased incidence of CPC in the state of Paraná, Brazil due to an unknown pathogen [8]. The present study was designed to address the question whether the increased number of CPC cases proposed in this previous study was related to the high frequency of the R337H germline mutation in southern Brazil [9], [10].…”

Section: Introductionmentioning

confidence: 95%

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Increased Incidence of Choroid Plexus Carcinoma Due to the Germline TP53 R337H Mutation in Southern Brazil

Custódio¹,

Taques²,

Figueiredo

et al. 2011

PLoS ONE

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BackgroundChoroid plexus carcinomas (CPC) are rare tumors predominantly found in children. Given the high frequency of the germline R337H mutation in the TP53 gene in southern Brazil, we have evaluated the frequency of the R337H mutation in families with CPC in children.Methodology/Principal FindingsThe present series included 29 patients that were admitted to the same institution from 1992 to 2010, including 22 children with CPC (0.08–13.6 years of age at diagnosis) and 7 children with papilloma of the choroid plexus (Pp; 0.5–9.8 years of age). Surgical resection was possible in 28 children. Blood and/or tumor DNA was extracted and analyzed using PCR-RFLP and results were confirmed by sequencing 240 bp of the TP53 exon 10. The patients, all parents, and some relatives submitted samples for blood DNA analysis. In addition, we have also examined the presence of the mutation in DNA from paraffin-embedded tumor samples to evaluate loss of heterozygosity. We found 63.3% (14/22) of the CPC patients positive for the germline R337H mutation; CPC samples were either heterozygous (n = 7), lost only the wild-type (n = 4), or only the R337H copy (n = 2). One CPC sample was not available. All Pp cases (7/7, 100%) were negative for R337H. Cure (>5 years survival free of disease) was observed in 18.1% of the CPC cases with the R337H mutation (2/11), 71.4% of the Pp (5/7), and 25% of CPC cases negative for the R337H mutation (2/8). Family history of cancer (with 2 or more cancer cases) was exclusively identified on the parental side segregating the R337H mutation, and 50% (7/14) of them were compatible with Li-Fraumeni-like syndrome.SignificanceOur results show for the first time that the R337H TP53 mutation is responsible for 63% of the CPC cases in children, suggesting a higher incidence of CPC in southern Brazil.

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 95%

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Increased Incidence of Choroid Plexus Carcinoma Due to the Germline TP53 R337H Mutation in Southern Brazil

Custódio¹,

Taques²,

Figueiredo

et al. 2011

PLoS ONE

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Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in Southeast Brazil

Seidinger

Mastellaro

Fortes

et al. 2010

Cancer

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BACKGROUND:The inherited, low-penetrance arginine-to-histidine substitution at codon 337 (R337H) of the tumor protein 53 gene (TP53) is clustered in southeast Brazil (estimated frequency, 0.3%). Although its tumorigenic effect initially appeared to be tissue-specific, recent evidence suggests its association with a broader range of tumors. Therefore, the authors of this report investigated the spectrum of pediatric malignancies associated with the TP53 R337H mutation at a single referral institution in southeast Brazil. METHODS: Genomic DNA samples from 493 children with malignancies were screened for the R337H mutation. Available tumor samples from carriers were investigated for loss of heterozygosity (LOH) and nuclear p53 accumulation. Clinical data were obtained from medical records. RESULTS: Sixty-five of 70 patients (93%) with adrenocortical tumors (ACTs), 9 of 13 patients (69%) with choroid plexus carcinoma (CPC), and 3 of 41 patients (7.3%) with osteosarcoma carried the mutation. The proportion of CPC to choroid plexus papilloma (CPP) was much higher than that reported elsewhere. Osteosarcoma in carriers had a significantly poorer outcome (P ¼ .02). The mutation was not identified in patients who had acute lymphoblastic leukemia (ALL) (n ¼ 187), recurrent ALL (n ¼ 49), acute myeloid leukemia (n ¼ 44), lymphoma (n ¼ 30), non-CPC central nervous system tumors (n ¼ 26), Ewing sarcoma (n ¼ 25), or rhabdomyosarcoma (n ¼ 8). Among the tumors that were available for analysis, LOH with retention of the mutant allele was confirmed in 21 of 21 ACTs, in 2 of 2 CPCs, and in 2 of 3 osteosarcomas that were positive for R337H. CPCs and osteosarcomas that were positive for R337H had marked nuclear accumulation of p53. CONCLUSIONS: The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome.

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Impact of Neonatal Screening and Surveillance for the TP53 R337H Mutation on Early Detection of Childhood Adrenocortical Tumors

Custódio¹,

Parise²,

Filho³

et al. 2013

JCO

170

181

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A B S T R A C T PurposeThe incidence of pediatric adrenocortical tumors (ACTs) is remarkably high in southern Brazil, where more than 90% of patients carry the germline TP53 mutation R337H. We assessed the impact of early detection of this mutation and of surveillance of carriers. Patients and MethodsFree newborn screening was offered at all hospitals in the state of Paraná . Parents of positive newborns were tested, and relatives in the carrier line were offered screening. Positive newborns and their relatives age Ͻ 15 years were offered surveillance (periodic clinical, laboratory, and ultrasound evaluations). ACTs detected by imaging were surgically resected. ResultsOf 180,000 newborns offered screening, 171,649 were screened, and 461 (0.27%) were carriers. As of April 2012, ACTs had been diagnosed in 11 of these carriers but in only two neonatally screened noncarriers (P Ͻ .001); six patient cases were identified among 228 carrier relatives age Ͻ 15 years (total, 19 ACTs). Surveillance participants included 347 (49.6%) of 699 carriers. Tumors were smaller in surveillance participants (P Ͻ .001) and more advanced in nonparticipants (four with stage III disease; two deaths). Neonatally screened carriers also had neuroblastoma (n ϭ 1), glioblastoma multiforme (n ϭ 1), choroid plexus carcinoma (n ϭ 2), and Burkitt lymphoma (n ϭ 1). Cancer histories and pedigrees were obtained for 353 families that included 1,704 identified carriers. ACTs were the most frequent cancer among carrier children (n ϭ 48). ConclusionThese findings establish the prevalence of the TP53 R337H mutation in Paraná state and the penetrance of ACTs among carriers. Importantly, screening and surveillance of heterozygous carriers are effective in detecting ACTs when readily curable.

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Tumores de plexo coróide: estudo epidemiológico comparativo de 24 casos

Cited by 3 publications

References 13 publications

Increased Incidence of Choroid Plexus Carcinoma Due to the Germline TP53 R337H Mutation in Southern Brazil

Increased Incidence of Choroid Plexus Carcinoma Due to the Germline TP53 R337H Mutation in Southern Brazil

Association of the highly prevalent TP53 R337H mutation with pediatric choroid plexus carcinoma and osteosarcoma in Southeast Brazil

Impact of Neonatal Screening and Surveillance for the TP53 R337H Mutation on Early Detection of Childhood Adrenocortical Tumors

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