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Correspondence
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Volume 359:537-539 July 31, 2008 Number 5
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Multiple Tumors in a Child with Germ-Line Mutations in TP53 and PTEN

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To the Editor: TP53, a tumor-suppressor gene, is frequently inactivated by somatic mutations in cancer. Inheritance of a heterozygous TP53 mutation results in the Li–Fraumeni syndrome of a hereditary predisposition to cancer.1 A germ-line mutation of the PTEN gene is associated with Cowden's syndrome of familial susceptibility to multiple hamartomas and to cancers of the breast, thyroid, and central nervous system.2 We describe a child who inherited mutations of both TP53 and PTEN.

A 7-month-old girl received concurrent diagnoses of an abdominal-wall lipoma and stage 3 differentiating neuroblastoma; at 16 months of age, a localized, anaplastic juvenile granulosa-cell tumor . . . [Full Text of this Article]



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