01 December 2006
p53 gene gets altered by various mechanisms: studies in childhood sarcomas and retinoblastoma.
Prachi Ghule, Pratibha Amare Kadam, Nirmala Jambhekar, Mikhil Bamne, Suresh Pai, Chandrika Nair, Shripad Banavali, Ajay Puri, Manish AgarwalMed Sci Monit 2006; 12(12): BR385-396 :: ID: 469533
Abstract
BACKGROUND: Somatic and constitutional mutation screening of p53 in childhood sarcomas and retinoblastoma was investigated by a multitechnical approach to evaluate its role in the development/progression by somatic mutation events and/or genetic predisposition. MATERIAL/METHODS: The studies were carried out on a cohort of 100 sarcoma cases, i.e. Ewing's sarcoma (n=44), osteosarcoma (n=36), and rhabdomyosarcoma (n= 20), and on 50 retinoblastoma (Rb) cases. RESULTS: Constitutional allelic deletion was found by FISH in 4% of sarcoma cases. Overall, 20% of sarcoma tumors showed p53 rearrangement by PCR/SSCP and Southern blot. Allelic deletion of p53 was detected in 78% of sarcoma and 55% of Rb tumors. p53 protein expression was detected by immunohistochemistry in 20% of sarcoma tumors. CONCLUSIONS: This study for the first time provided evidence of p53 alteration through allelic deletion that are common primary somatic mutation events which occur irrespective of grade and stage and are hence probably associated with an early phase of tumorigenesis and/or tumor progression. The studies also explored the occurrence of de novo constitutional deletion of p53 in sporadic childhood sarcomas. This study in retinoblastoma provided evidence for the synergistic role of RB1 and p53, probably essential for the full-blown development of malignancy.
Keywords: In Situ Hybridization, Fluorescence, Sarcoma, Ewing - genetics, Sarcoma - genetics, Rhabdomyosarcoma - genetics, Retinoblastoma - genetics, Retinal Neoplasms - genetics, Polymorphism, Single-Stranded Conformational, Polymerase Chain Reaction, Point Mutation, Osteosarcoma - genetics, Infant, Newborn, Base Sequence, Germ-Line Mutation, Genes, p53, Gene Dosage, Gene Deletion, DNA Primers - genetics, Child, Preschool, Child, Bone Neoplasms - genetics, Adolescent
Editorial
01 August 2022 : Editorial
Editorial: Long-Term Effects of Symptomatic and Asymptomatic SARS-CoV-2 Infection in Children and the Changing Pathogenesis of Common Childhood Viruses Driven by the COVID-19 PandemicDOI: 10.12659/MSM.937927
Med Sci Monit 2022; 28:e937927
In Press
08 Aug 2022 : Clinical Research
A 3-Year Clinical Evaluation of Endodontically Treated Posterior Teeth Restored with Resin Nanoceramic Comp...Med Sci Monit In Press; DOI: 10.12659/MSM.937331
08 Aug 2022 : Clinical Research
Hemoglobin/Red Blood Cell Distribution Width Ratio in Peripheral Blood Is Positively Associated with Progno...Med Sci Monit In Press; DOI: 10.12659/MSM.937146
05 Aug 2022 : Clinical Research
A Retrospective Study of 98 Elderly Patients with High-Risk Lateral Femoral Wall Intertrochanteric Hip Frac...Med Sci Monit In Press; DOI: 10.12659/MSM.936923
04 Aug 2022 : Clinical Research
Radiological Assessment of Prevalance and Quality of Periapical Status of Endodontic TreatmentsMed Sci Monit In Press; DOI: 10.12659/MSM.936569
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-19DOI :10.12659/MSM.928996
Med Sci Monit 2020; 26:e928996