A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor

C.W. Stecher; H. Hasle; Kirsten Grønbæk

A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor

Department of Clinical Medicine

5 Citations (Scopus)

Abstract

A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition
Udgivelsesdato: 2008/3

Original language	English
Journal	Pediatric Blood & Cancer
Volume	50
Issue number	3
Pages (from-to)	701-703
Number of pages	2
ISSN	1545-5009
Publication status	Published - 2008

Cite this

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title = "A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor",

abstract = "A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition Udgivelsesdato: 2008/3",

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T1 - A novel splice mutation in the TP53 gene associated with Leydig cell tumor and primitive neuroectodermal tumor

AU - Stecher, C.W.

AU - Hasle, H.

AU - Grønbæk, Kirsten

PY - 2008

Y1 - 2008

N2 - A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition Udgivelsesdato: 2008/3

AB - A 20-month-old boy presented with precocious puberty due to a Leydig cell tumor, and at the age of 6 years with a primitive neuroectodermal brain-tumor (PNET). A novel splice site mutation of the TP53-gene, likely to be associated with a nonfunctional protein, was found in the proband, his father and younger sister, but only the proband has so far developed malignancy. The clinical phenotype in the boy is suggestive of Li-Fraumeni syndrome, but the family does not strictly conform to the canonical definition Udgivelsesdato: 2008/3

M3 - Journal article

SN - 1545-5009

VL - 50

SP - 701

EP - 703

JO - Pediatric Blood and Cancer

JF - Pediatric Blood and Cancer

IS - 3

ER -