دورية أكاديمية
Early Detection of Adrenocortical Carcinoma in a Child With Li-Fraumeni Syndrome
| العنوان: | Early Detection of Adrenocortical Carcinoma in a Child With Li-Fraumeni Syndrome |
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| المؤلفون: | Lin, M.T., 謝政哲, Shie, J.J., Chang, J.H.M., Chang, S.W., Chen, T.C., Hsu, W.H. |
| سنة النشر: | 2009 |
| المجموعة: | National Chung Hsing University Institutional Repository - NCHUIR / 國立中興大學 |
| مصطلحات موضوعية: | carrier screen, childhood, genetic counseling, Li-Fraumeni syndrome, p53, mutation, breast-cancer, familial syndrome, p53 mutations, risk, mri, tomography, neoplasms, sarcomas, system, women |
| الوصف: | We report ail early detection of cancer in a child with Li-Fraumeni syndrome. The proband was a 3-year-old male with a primitive mesenchymal tumor. Genetic analysis showed a germline TP53 mutation in codon 220 exon 6, which changed TAT -> TGT and resulted in a tyrosine-to-cysteine amino acid substitution (Tyr220Cys). The younger Sister at risk was followed, and an asymptomatic adrenal cortical carcinoma was detected 3 years later. The report highlights the importance of genetic counseling and provides an example of early detection of cancers in childhood LFS carriers. Pediatr Blood Cancer 2009 ; 52:-541-544 (C) 2008 Wiley-Liss, Inc. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1545-5009 |
| العلاقة: | #PLACEHOLDER_PARENT_METADATA_VALUE#; Pediatric Blood & Cancer; Pediatric Blood & Cancer, Volume 52, Issue 4, Page(s) 541-544.; http://dx.doi.org/10.1002/pbc.21836Test; http://hdl.handle.net/11455/40396Test |
| DOI: | 10.1002/pbc.21836 |
| الإتاحة: | https://doi.org/10.1002/pbc.21836Test http://hdl.handle.net/11455/40396Test |
| حقوق: | none |
| رقم الانضمام: | edsbas.707E140 |
| قاعدة البيانات: | BASE |
| تدمد: | 15455009 |
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| DOI: | 10.1002/pbc.21836 |