Logo Medical Science Monitor

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo Medical Science Monitor Logo Medical Science Monitor Logo Medical Science Monitor

23 April 2012

A novel TP53 somatic mutation involved in the pathogenesis of pediatric choroid plexus carcinoma

Sheng-Qing LvAEG, Ye-Chun SongBC, Jian-Ping XuCD, Hai-Feng ShuEF, Zheng ZhouD, Ning AnB, Qi-Lin HuangDF, Hui YangAF

DOI: 10.12659/MSM.882720

Med Sci Monit 2012; 18(5): CS37-41

Abstract

Background: Choroid plexus carcinoma (CPC) is an uncommon, aggressive, malignant, central nervous system neoplasm that typically occurs in children, presenting with the signs and symptoms of intracranial hypertension and cerebrospinal fluid obstruction.
Case Report: We report the case of a 2.5-year-old girl with CPC. The tumor was subtotally removed by microsurgery, followed by gamma knife radiosurgery for the residual lesion. H&E staining indicated that this was a rare case of CPC. Neuropathological studies, assayed by immunohistochemical staining, showed that the tumor sample was positive to antibodies against S-100, CgA, AE1/AE3 (cytokeratin), Ki-67, INI1 and TP53, and was negative to antibodies against Nestin, GFAP, CD133, EMA and AFP. Moreover, stainings for transthyretin and vimentin were focally positive. Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene. In contrast to previous reports suggesting that TP53 germline mutations were associated with the pathogenesis of CPC, here we provide a rare case of CPC with TP53 somatic mutation, as evidence that the peritumoral tissue possesses the non-mutant TP53 allele.
Conclusions: Our finding suggests that TP53 somatic mutations, in addition to its germline mutations, may also be involved in the pathogenesis of pediatric CPC.

Keywords: Genes, p53, Germ-Line Mutation, Fatal Outcome, Choroid Plexus Neoplasms - genetics, Child, Preschool

0 Comments

Editorial

12 September 2022 : Editorial  

Editorial: Treatment with Dual Incretin Receptor Agonists to Maintain Normal Glucose Levels May Also Maintain Normal Weight and Control Metabolic Dysfunction-Associated Fatty Liver Disease (MAFLD)

Ana Luisa Ordóñez-Vázquez, Sofía Murúa Beltrán-Gall, Shreya C. Pal, Nahum Méndez-Sánchez
Liver Research Unit, Medica Sur Clinic Foundation, Mexico City, Mexico

DOI: 10.12659/MSM.938365

Med Sci Monit 2022; 28:e938365

SARS-CoV-2/COVID-19

16 September 2022 : Review article  

Effects of Physiotherapy on Rehabilitation and Quality of Life in Patients Hospitalized for COVID-19: A Rev...

Med Sci Monit In Press; DOI: 10.12659/MSM.938141  

12 September 2022 : Clinical Research  

Effect of Vitamin D Concentration on Course of COVID-19

Med Sci Monit In Press; DOI: 10.12659/MSM.937741  

In Press

29 Sep 2022 : Animal Research  

Effect of Antilogous Platelet-Rich Plasma on the Revascularization of Rabbit Prefabricated Flap

Med Sci Monit In Press; DOI: 10.12659/MSM.937718  

26 Sep 2022 : Clinical Research  

Distribution and Determinants of Plasma Homocysteine Levels in a Preconception Population: A Retrospective ...

Med Sci Monit In Press; DOI: 10.12659/MSM.937987  

26 Sep 2022 : Clinical Research  

Latency and Interpeak Interval Values of Auditory Brainstem Response in 73 Individuals with Normal Hearing

Med Sci Monit In Press; DOI: 10.12659/MSM.937847  

23 Sep 2022 : Review article  

A Review of the Role of Ultrasound Radiomics and Its Application and Limitations in the Investigation of Th...

Med Sci Monit In Press; DOI: 10.12659/MSM.937738  

Most Viewed Current Articles

30 Dec 2021 : Clinical Research  

Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...

DOI :10.12659/MSM.935379

Med Sci Monit 2021; 27:e935379

13 Nov 2021 : Clinical Research  

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

DOI :10.12659/MSM.932788

Med Sci Monit 2021; 27:e932788

08 Mar 2022 : Review article  

A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...

DOI :10.12659/MSM.936292

Med Sci Monit 2022; 28:e936292

01 Nov 2020 : Review article  

Long-Term Respiratory and Neurological Sequelae of COVID-19

DOI :10.12659/MSM.928996

Med Sci Monit 2020; 26:e928996

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750