NDLI: Occurrence of Neuroblastoma among TP53 p.R337H Carriers

Content Provider	PubMed Central
Author	Seidinger, Ana Luiza Fortes, Fernanda Paschoal José, Mastellaro Maria Cardinalli, Izilda Aparecida Girotto, Zambaldi Lilian Aguiar, Simone Santos Yunes, José Andrés
Editor	Rota, Rossella
Copyright Year	2015
Abstract	The high incidence of adrenocortical tumors and choroid plexus carcinoma in children from South and Southeastern regions of Brazil is associated with the germline p.R337H mutation of TP53 gene. The concomitant occurrence of neuroblastoma and adrenocortical tumors in pediatric patients harboring the p.R337H mutation at our institution prompted us to investigate the putative association between p.R337H and pediatric neuroblastoma. Genomic DNA samples from 83 neuroblastoma patients referred to a single institution during the period of 2000–2014 were screened for the p.R337H mutation. Available samples from carriers were investigated for both nuclear p53 accumulation and loss of heterozigosity in tumor. Clinical data were obtained from medical records in order to assess the impact of 337H allele on manifestation of the disease. Seven out 83 neuroblastoma patients (8.4%) were carriers of the TP53 p.R337H mutation in our cohort. Immunohistochemical analysis of p.R337H-positive tumors revealed nuclear p53 accumulation. Loss of heterozigosity was not found among available samples. The presence of 337H allele was associated with increased proportion of stage I tumors. Our data indicate that in addition to adrenocortical tumors, choroid plexus carcinoma, breast cancer and osteosarcoma, genetic counseling and clinical surveillance should consider neuroblastoma as a potential neoplasia affecting p.R337H carriers.
Related Links	http://dx.doi.org/10.1371/journal.pone.0140356
Starting Page	140356
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	10
Volume Number	10
Language	English
Publisher	Public Library of Science
Publisher Date	2015-10-01
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Biochemistry, Genetics and Molecular Biology(all) Agricultural and Biological Sciences(all) Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

Increased Oxidative Damage in Carriers of the Germline TP53 p.R337H Mutation

Effects of MDM2, MDM4 and TP53 Codon 72 Polymorphisms on Cancer Risk in a Cohort Study of Carriers of TP53 Germline Mutations

The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers

Assessment of TP53 Mutations in Benign and Malignant Salivary Gland Neoplasms

Widespread Natural Occurrence of Hydroxyurea in Animals

Normal and Functional TP53 in Genetically Stable Myxoid/Round Cell Liposarcoma

N-Cadherin in Neuroblastoma Disease: Expression and Clinical Significance

Aurora Kinases as Targets in Drug-Resistant Neuroblastoma Cells

Widespread Occurrence of Dosage Compensation in Candida albicans

Occurrence of Neuroblastoma among TP53 p.R337H Carriers

Similar Documents

Increased Oxidative Damage in Carriers of the Germline TP53 p.R337H Mutation

Effects of MDM2, MDM4 and TP53 Codon 72 Polymorphisms on Cancer Risk in a Cohort Study of Carriers of TP53 Germline Mutations

The breast cancer immunophenotype of TP53-p.R337H carriers is different from that observed among other pathogenic TP53 mutation carriers

Assessment of TP53 Mutations in Benign and Malignant Salivary Gland Neoplasms

Widespread Natural Occurrence of Hydroxyurea in Animals

Normal and Functional TP53 in Genetically Stable Myxoid/Round Cell Liposarcoma

N-Cadherin in Neuroblastoma Disease: Expression and Clinical Significance

Aurora Kinases as Targets in Drug-Resistant Neuroblastoma Cells

Widespread Occurrence of Dosage Compensation in Candida albicans

Occurrence of Neuroblastoma among TP53 p.R337H Carriers