Early detection of adrenocortical carcinoma in a child with Li–Fraumeni syndrome | Zendy

Lin MingTsan | Zendy; Shieh JengJer | Zendy; Chang Julia HuiMei | Zendy; Chang ShihWen | Zendy; Chen TseChing | Zendy; Hsu WenHu | Zendy

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Early detection of adrenocortical carcinoma in a child with Li–Fraumeni syndrome

Author(s) -

Lin MingTsan,

Shieh JengJer,

Chang Julia HuiMei,

Chang ShihWen,

Chen TseChing,

Hsu WenHu

Publication year - 2009

Publication title -

pediatric blood and cancer

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.116

H-Index - 105

eISSN - 1545-5017

pISSN - 1545-5009

DOI - 10.1002/pbc.21836

Subject(s) - li–fraumeni syndrome , proband , medicine , adrenocortical carcinoma , germline mutation , germline , asymptomatic , genetic counseling , exon , pheochromocytoma , cancer , oncology , mutation , cancer research , genetics , gene , biology

We report an 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. © 2008 Wiley‐Liss, Inc.

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