Lesões expansivas do plexo coróide

Melo, Elizabeth Mesquita; García, Mora; Fernandes, Raquel; Barros, Nélio Garcia de; Cerri, Giovanni Guido; Leite, Cláudia da Costa

doi:10.1590/s0100-39842003000600010

Cited by 2 publications

(1 citation statement)

References 16 publications

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“…CPC corresponds to 1–4% of all pediatric intracranial tumors [1] and are much less common than the benign intraventricular papillomas (Pp) [2] . CPC are very aggressive tumors, with a very unfavorable prognosis and typically appear in the first decade of life (38% of cases) [3] . The relatively small number of CPC cases in the literature, coupled with the lack of relevant epidemiological data and controversies about their clinical and pathological diagnosis makes it difficult to establish a standardized therapeutic approach in managing this condition [4] , [5] .…”

Section: Introductionmentioning

confidence: 99%

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: Introductionmentioning

confidence: 99%

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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Choroid plexus papilloma in a Rottweiler: computed tomographic, gross morfological and histological features

Pinto

Villamizar

Ghirelli

et al. 2013

Arq. Bras. Med. Vet. Zootec.

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Among the tumors affecting the choroid plexus in dogs, the papilloma ranks second place in incidence after cell carcinoma tumors. Presumptive diagnosis can be made through imaging methods, such as computed tomography and magnetic resonance images. Definitive diagnosis of plexus choroid tumor is based on histopathological findings. This report presented the tomographic features of the brain in a 6-year-old intact female Rottweiler with choroid plexus papilloma. The computed tomography showed right lateral ventricle enlargement, midline deviation and an enhanced mass into the postcontrast phase. At necropsy, a mass on the floor of the right lateral ventricle was observed, associated with important ventricle dilatation. The histopathological analysis demonstrated the presence of neoplastic cell forms with papillary projections. The computed tomography proved to be an effective tool in the presumptive diagnosis of this kind of cerebral disorder.

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Lesões expansivas do plexo coróide

Cited by 2 publications

References 16 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

Choroid plexus papilloma in a Rottweiler: computed tomographic, gross morfological and histological features

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