Simultaneous Adrenocortical Carcinoma and Ganglioneuroblastoma in a Child with Turner Syndrome and Germline P53 Mutation

Overview

Journal J Med Genet

Specialty Genetics

Date 1998 May 23

PMID 9598730

Citations 8

Authors

E K Pivnick

W L Furman

G V Velagaleti

J J Jenkins

N A Chase

R C Ribeiro

Affiliations

Soon will be listed here.

Abstract

The predisposition to malignancy that is dominantly inherited in Li-Fraumeni syndrome is associated with germline mutations of the tumour suppressor gene p53. Although second malignant neoplasms have been described in children with p53 mutations, the synchronous occurrence of two embryologically different tumours in these children has not been reported. A 20 month old girl with failure to thrive and congenital heart defects was found to have unilateral adrenal masses which, at surgical removal, proved to be an adrenocortical carcinoma and a ganglioneuroblastoma. Further investigation showed a germline p53 mutation and Turner syndrome. It remains to be determined what effect the 45,X chromosomal complement may have on the expression of neoplasms seen in patients with p53 germline mutations.

Citing Articles

Development of Neuroblastoma During Growth Hormone Therapy for Short Stature in a Girl With Mosaic Turner Syndrome.

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CO-OCCURRENCE OF ADRENOCORTICAL CARCINOMA AND GASTROINTESTINAL STROMAL TUMOR IN A PATIENT WITH NEUROFIBROMATOSIS TYPE 1 AND A HISTORY OF ENDOMETRIAL CANCER.

Minkiewicz I, Wilbrandt-Szczepanska E, Jendrzejewski J, Sworczak K, Korwat A, Sledzinski M Acta Endocrinol (Buchar). 2020; 16(3):353-358.

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Dual diagnoses in 152 patients with Turner syndrome: Knowledge of the second condition may lead to modification of treatment and/or surveillance.

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Synchronous adrenocortical carcinoma and ovarian malignant mixed germ cell tumor: A case report and literature review.

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Occurrence of Neuroblastoma among TP53 p.R337H Carriers.

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