Multiple Neoplasia in a 15-year-old Girl With Familial Adenomatous Polyposis

被引：3
|
作者：
Brasseur, Benoit [1 ]
Dahan, Karin [2 ]
Beauloye, Veronique [3 ]
Bletard, Noella [4 ]
Chantrain, Christophe [1 ]
Dupont, Sophie [1 ]
Guarin, Jean-Luc [2 ]
Vermylen, Christiane [1 ]
Brichard, Benedicte [1 ]
机构：
[1] Catholic Univ Louvain, Dept Pediat Haematol & Oncol, St Luc Univ Hosp, B-1200 Brussels, Belgium
[2] Catholic Univ Louvain, Ctr Human Genet, St Luc Univ Hosp, B-1200 Brussels, Belgium
[3] Catholic Univ Louvain, Dept Pediat Endocrinol, St Luc Univ Hosp, B-1200 Brussels, Belgium
[4] Catholic Univ Louvain, Dept Pathol, St Luc Univ Hosp, B-1200 Brussels, Belgium
来源：
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2009年 / 31卷 / 07期
关键词：
APC gene; brain tumor-polyposis syndrome; familial adenomatous polyposis; germline mutation; papillary thyroid carcinoma; Turcot syndrome; PAPILLARY THYROID-CARCINOMA; GENOTYPE-PHENOTYPE CORRELATIONS; CHILDHOOD-CANCER SURVIVOR; OF-THE-LITERATURE; APC GENE; MOLECULAR ANALYSIS; VARIANT; MUTATIONS; TUMORS;
D O I：
10.1097/MPH.0b013e3181984f91
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
A 15-year-old girl with adenomatous polyposis coli gene (APC) mutation and brain tumor-polyposis syndrome developed an unusual succession of cervicocephalic tumors (medulloblastoma, meningeal low-grade myxoid tumor, and papillary thyroid carcinoma), at the age of 5, 9, and 15 years, respectively. We discuss the genetic profile of the thyroid tumor in which a large somatic deletion of A PC gene was found and the physiopathology of thyroid carcinoma in patients with germline APC mutation. We also point out the uncommon phenotype in this young girl with early multiple neoplasias and the difficulties of management of such familial adenomatous polyposis patients with occurrence of extracolonic cancers that require the use of potential trigger agents as radiotherapy or chemotherapy.
引用
收藏
页码：530 / 532
页数：3
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