Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations

Choong SS, Latiff ZA, Mohamed M, Lim LLW, Chen KS, Vengidasan L, Razali H, Abdul Rahman EJ, Ariffin H for Malaysian Society of Paediatric Haematology‐Oncology. Childhood adrenal cortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations. Li‐Fraumeni syndrome (LFS) is...

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Published in:	Clinical genetics Vol. 82; no. 6; pp. 564 - 568
Main Authors:	Choong, SS, Latiff, ZA, Mohamed, M, Lim, LLW, Chen, KS, Vengidasan, L, Razali, H, Abdul Rahman, EJ, Ariffin, H
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-12-2012 Wiley-Blackwell
Subjects:	Adrenal glands Adrenals. Adrenal axis. Renin-angiotensin system (diseases) Adrenocortical Carcinoma - genetics Adrenocortical Carcinoma - pathology Age Biological and medical sciences Cancer Carcinoma Child childhood adrenocortical carcinoma Children Children & youth Cortex DNA Mutational Analysis Endocrinopathies Fundamental and applied biological sciences. Psychology Genes Genetic disorders Genetic Testing - methods Genetic Testing - standards Genetics of eukaryotes. Biological and molecular evolution Germ-Line Mutation - genetics germline p53 mutation Hereditary diseases Humans Li-Fraumeni syndrome Li-Fraumeni Syndrome - diagnosis Li-Fraumeni Syndrome - genetics Malaysia Malignant tumors Medical genetics Medical sciences Molecular and cellular biology Mutation p53 protein p53 tumour suppressor Pediatrics Pedigree Sentinel Surveillance Tumor suppressor genes Tumor Suppressor Protein p53 - genetics Malaysia Endocrinopathy Human Adrenal cortex carcinoma Multiple Family study Malignant tumor Genetic disease germline p53 mutation TP53 Gene Germ line Adrenal gland diseases Genetics childhood adrenocortical carcinoma Mutation Child p53 tumour suppressor Cancer Li-Fraumeni syndrome
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Summary:	Choong SS, Latiff ZA, Mohamed M, Lim LLW, Chen KS, Vengidasan L, Razali H, Abdul Rahman EJ, Ariffin H for Malaysian Society of Paediatric Haematology‐Oncology. Childhood adrenal cortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations. Li‐Fraumeni syndrome (LFS) is a highly penetrant, autosomal dominant disorder where affected individuals carry a 50% risk of developing cancer before 30 years of age. It is most commonly associated with mutations in the tumour suppressor gene, TP53. Adrenocortical carcinoma (ACC) is a very rare paediatric cancer, and up to 80% of affected children are found to carry germline TP53 mutations. Hence, we propose using childhood ACC incidence as selection criteria for referral for TP53 mutation testing, independent of familial cancer history. Under the auspices of the Malaysian Society of Paediatric Haematology–Oncology, four eligible children diagnosed with ACC over a 30‐month study period were referred for mutation testing. Three had a germline TP53 mutation. Subsequent TP53 testing in relatives showed two inherited mutations and one de novo mutation. These findings strongly support paediatric ACC as a useful sentinel cancer for initiating a germline TP53/LFS detection programme, particularly in countries where the lack of structured oncogenetic practice precludes the identification of families with LFS features.
Bibliography:	istex:FD7ECE37748EB8539F3EEC66297FD9358920ADB3 ArticleID:CGE1841 ark:/67375/WNG-F4MGJ66B-D ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	0009-9163 1399-0004
DOI:	10.1111/j.1399-0004.2012.01841.x