Germline p53 mutation presenting as synchronous tumors

Mary Ellen Cavalier, Mary M. Davis, James M. Croop

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Li-Fraumeni syndrome and the LF-like syndrome, rare heritable conditions that predispose to the development of malignancy, are associated with germline mutations of the tumor suppressor gene p53. The authors describe a 14-month-old boy who presented with synchronous rhabdomyosarcoma and adrenal cortical carcinoma and a novel mutation of the p53 gene. Analysis of exons 2 through 11 of the p53 gene using the polymerase chain reaction and DNA sequencing revealed a mutation of codon 273. Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma.

Original languageEnglish (US)
Pages (from-to)441-443
Number of pages3
JournalJournal of Pediatric Hematology/Oncology
Volume27
Issue number8
DOIs
StatePublished - Aug 2005

Fingerprint

Germ-Line Mutation
Adrenocortical Carcinoma
Mutation
p53 Genes
Codon
Neoplasms
Rhabdomyosarcoma
Tumor Suppressor Genes
DNA Sequence Analysis
Exons
Polymerase Chain Reaction

Keywords

  • Adrenal cortical carcinoma
  • Li-Fraumeni syndrome
  • Rhabdomyosarcoma

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Oncology
  • Hematology

Cite this

Germline p53 mutation presenting as synchronous tumors. / Cavalier, Mary Ellen; Davis, Mary M.; Croop, James M.

In: Journal of Pediatric Hematology/Oncology, Vol. 27, No. 8, 08.2005, p. 441-443.

Research output: Contribution to journalArticle

Cavalier, Mary Ellen ; Davis, Mary M. ; Croop, James M. / Germline p53 mutation presenting as synchronous tumors. In: Journal of Pediatric Hematology/Oncology. 2005 ; Vol. 27, No. 8. pp. 441-443.
@article{423af7c044194d92bb74d2a1ba20a3a8,
title = "Germline p53 mutation presenting as synchronous tumors",
abstract = "Li-Fraumeni syndrome and the LF-like syndrome, rare heritable conditions that predispose to the development of malignancy, are associated with germline mutations of the tumor suppressor gene p53. The authors describe a 14-month-old boy who presented with synchronous rhabdomyosarcoma and adrenal cortical carcinoma and a novel mutation of the p53 gene. Analysis of exons 2 through 11 of the p53 gene using the polymerase chain reaction and DNA sequencing revealed a mutation of codon 273. Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma.",
keywords = "Adrenal cortical carcinoma, Li-Fraumeni syndrome, Rhabdomyosarcoma",
author = "Cavalier, {Mary Ellen} and Davis, {Mary M.} and Croop, {James M.}",
year = "2005",
month = "8",
doi = "10.1097/01.mph.0000176732.68090.c8",
language = "English (US)",
volume = "27",
pages = "441--443",
journal = "Journal of Pediatric Hematology/Oncology",
issn = "1077-4114",
publisher = "Lippincott Williams and Wilkins",
number = "8",

}

TY - JOUR

T1 - Germline p53 mutation presenting as synchronous tumors

AU - Cavalier, Mary Ellen

AU - Davis, Mary M.

AU - Croop, James M.

PY - 2005/8

Y1 - 2005/8

N2 - Li-Fraumeni syndrome and the LF-like syndrome, rare heritable conditions that predispose to the development of malignancy, are associated with germline mutations of the tumor suppressor gene p53. The authors describe a 14-month-old boy who presented with synchronous rhabdomyosarcoma and adrenal cortical carcinoma and a novel mutation of the p53 gene. Analysis of exons 2 through 11 of the p53 gene using the polymerase chain reaction and DNA sequencing revealed a mutation of codon 273. Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma.

AB - Li-Fraumeni syndrome and the LF-like syndrome, rare heritable conditions that predispose to the development of malignancy, are associated with germline mutations of the tumor suppressor gene p53. The authors describe a 14-month-old boy who presented with synchronous rhabdomyosarcoma and adrenal cortical carcinoma and a novel mutation of the p53 gene. Analysis of exons 2 through 11 of the p53 gene using the polymerase chain reaction and DNA sequencing revealed a mutation of codon 273. Although codon 273 is a known hotspot region for p53 mutation, the patient's mutation, R273H, has not been associated with development of adrenal cortical carcinoma.

KW - Adrenal cortical carcinoma

KW - Li-Fraumeni syndrome

KW - Rhabdomyosarcoma

UR - http://www.scopus.com/inward/record.url?scp=24144439282&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=24144439282&partnerID=8YFLogxK

U2 - 10.1097/01.mph.0000176732.68090.c8

DO - 10.1097/01.mph.0000176732.68090.c8

M3 - Article

VL - 27

SP - 441

EP - 443

JO - Journal of Pediatric Hematology/Oncology

JF - Journal of Pediatric Hematology/Oncology

SN - 1077-4114

IS - 8

ER -