Literature DB >> 33505750

Pediatric Case of Li-Fraumeni Syndrome in Honduras.

R Martínez-Beckerat1, C Alas-Pineda1, M Melgar-Gonzales1, B Mejía-Raudales2, N Andino-Paz3, S Bejarano-Cáceres4, J Chiang5.   

Abstract

Li-Fraumeni syndrome is an inherited, autosomal dominant disease. It is categorized as a rare disease caused by mutations of the TP53 gene, which causes increased susceptibility of the patients and their children to many types of cancer. Choroid plexus tumor is rare, which occurs in 0.3 cases per 1,000,000 people, of which 40% turn out to be carcinomas. We present a 12-year-old boy with a history of worsening headaches of more than one month, gait disturbance, projectile vomiting, and right hemiparesis. An intraventricular tumor was identified in the occipital of the left lateral ventricle, which turned out to be a TP53-mutant choroidal plexus carcinoma.
Copyright © 2021 R. Martínez-Beckerat et al.

Entities:  

Year:  2021        PMID: 33505750      PMCID: PMC7814941          DOI: 10.1155/2021/6612802

Source DB:  PubMed          Journal:  Case Rep Pediatr


  10 in total

1.  Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?

Authors:  F P Li; J F Fraumeni
Journal:  Ann Intern Med       Date:  1969-10       Impact factor: 25.391

Review 2.  p53: twenty five years understanding the mechanism of genome protection.

Authors:  M Gomez-Lazaro; F J Fernandez-Gomez; J Jordán
Journal:  J Physiol Biochem       Date:  2004-12       Impact factor: 4.158

3.  Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations.

Authors:  Vera Krutilkova; Marie Trkova; Julie Fleitz; Vladimir Gregor; Kamila Novotna; Anna Krepelova; David Sumerauer; Roman Kodet; Simona Siruckova; Pavlina Plevova; Sarka Bendova; Petra Hedvicakova; Nicholas K Foreman; Zdenek Sedlacek
Journal:  Eur J Cancer       Date:  2005-07       Impact factor: 9.162

4.  Tissue-specific expression of SV40 in tumors associated with the Li-Fraumeni syndrome.

Authors:  D Malkin; S Chilton-MacNeill; L A Meister; E Sexsmith; L Diller; R L Garcea
Journal:  Oncogene       Date:  2001-07-27       Impact factor: 9.867

5.  Chemotherapy improves the survival of patients with choroid plexus carcinoma: a meta-analysis of individual cases with choroid plexus tumors.

Authors:  Brigitte Wrede; Ping Liu; Johannes Ernst Alexander Wolff
Journal:  J Neurooncol       Date:  2007-06-19       Impact factor: 4.130

6.  Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

Authors:  Kelvin C de Andrade; Megan N Frone; Talia Wegman-Ostrosky; Payal P Khincha; Jung Kim; Amina Amadou; Karina M Santiago; Fernanda P Fortes; Nathanaël Lemonnier; Lisa Mirabello; Douglas R Stewart; Pierre Hainaut; Luiz P Kowalski; Sharon A Savage; Maria I Achatz
Journal:  Hum Mutat       Date:  2018-11-19       Impact factor: 4.878

7.  Li-Fraumeni syndrome.

Authors:  Carlos Andrés Ossa; Gustavo Molina; Alicia María Cock-Rada
Journal:  Biomedica       Date:  2016-06-03       Impact factor: 0.935

8.  p53 gene mutations in pediatric brain tumors.

Authors:  C A Felix; I Slavc; M Dunn; E A Strauss; P C Phillips; L B Rorke; L Sutton; G R Bunin; J A Biegel
Journal:  Med Pediatr Oncol       Date:  1995-12

9.  Choroid plexus carcinoma: Case report and review of literature.

Authors:  Arvind Mishra; Chhitij Srivastava; Sunil K Singh; Anil Chandra; Bal K Ojha
Journal:  J Pediatr Neurosci       Date:  2012-01

Review 10.  The 2007 WHO classification of tumours of the central nervous system.

Authors:  David N Louis; Hiroko Ohgaki; Otmar D Wiestler; Webster K Cavenee; Peter C Burger; Anne Jouvet; Bernd W Scheithauer; Paul Kleihues
Journal:  Acta Neuropathol       Date:  2007-07-06       Impact factor: 17.088

  10 in total

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