Clinical evaluation of pediatric patients with solid tumours, for features of cancer predisposition syndromes in Gauteng, South Africa
Date
2022
Authors
Mabaso, Njabulo Christian
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Abstract
Context: Malignant solid tumours are relatively uncommon in children when compared to adult cancer. The development of cancer in children provides an opportunity for understanding basic cancer pathogenesis on the background of minimal exposure to environmental carcinogens in a child’s life. This study aimed at evaluating the factors that assist in determining whether the development of cancer in children is part of a cancer predisposition syndrome (CPS). There is international consensus that about 8% - to – 10% of children with solid tumours harbour a genetic (familial or de novo) predisposition to cancer. There is also a growing interest in understanding childhood cancer predisposition to potentially develop novel therapies for treatment, as well as develop new approaches to diagnosing and prognosticating in childhood cancers. Understanding genetic contribution to childhood cancer profiles would help manage other predicted health risks in the proband and also mitigate risks to other at-risk family members. Additionally, there is limited knowledge of childhood cancer profiles on the African continent. In this study, the researchers were aiming to determine the significance of genetic predisposition to childhood cancers in Gauteng, South Africa, as determined clinically, and contribute towards the development of clinical guidelines that can be utilized by paediatricians (or paediatric oncologists) in identifying patients that would benefit from a clinical genetics consultation. This study was nested in a larger study where detailed molecular genetic analysis will also be assessed and correlated with clinical features.
Description
A research report submitted in partial fulfilment of the requirements for the degree of Master of Medicine in Medical Genetics to the Faculty of Health Sciences, School of Pathology, University of the Witwatersrand, Johannesburg, 2022