Neuroblastoma and related tumors in Turner's syndrome

J. Blatt, A. E. Olshan, P. A. Lee, J. L. Ross

Research output: Contribution to journalArticle

40 Citations (Scopus)

Abstract

Objectives: The identification of constitutional cytogenetic abnormalities in patients with cancer may indicate loci of genes, abnormalities of which are responsible for tumor development or progression. This study was undertaken to determine whether girls with Turner's syndrome (TS) (partial or complete deletion of an X chromosome, short stature, gonadal dysgenesis) are at increased risk of neural crest-derived tumors. Study Design: Medical records of 394 patients with TS who were followed up at Thomas Jefferson Hospital and Children's Hospital of Pittsburgh were reviewed for documentation of TS phenotype, constitutional cytogenetics, and history of neuroblastoma or related tumors. Informative cases were reviewed for tumor pathology, primary site, disease stage, associated symptoms, treatment, and outcome. Results: Three patients were found to have neuroblastoma. A fourth child who died of neurofibrosarcoma was found to have extensive areas of ganglioneuroma, the benign counterpart of neuroblastoma, at autopsy. An additional four girls with TS and neuroblastoma were identified in the literature, as were two more patients with ganglioneuroma. These 10 patients ranged in age from 1 week to 16 10/12 years (median age, 3 years), and all but two of the children had localized lesions. Two of the seven children with neuroblastoma had courses complicated by opsoclonus-myoclonus, a syndrome found in fewer than 5% of all patients with neuroblastoma. Conclusions: These data strongly suggest that girls with TS are predisposed to the development of neuroblastoma and related tumors. Because these tumors are often of limited stage and may be underdiagnosed, screening of urine of patients with TS for elevated catecholamine metabolite levels may strengthen this association.

Original languageEnglish (US)
Pages (from-to)666-670
Number of pages5
JournalJournal of Pediatrics
Volume131
Issue number5
DOIs
StatePublished - Jan 1 1997

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Turner Syndrome
Neuroblastoma
Neoplasms
Ganglioneuroma
Opsoclonus-Myoclonus Syndrome
Neurofibrosarcoma
Gonadal Dysgenesis
X Chromosome
Cytogenetics
Chromosome Aberrations
Documentation
Catecholamines
Medical Records
Autopsy
Urine
Pathology
Phenotype
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Blatt, J. ; Olshan, A. E. ; Lee, P. A. ; Ross, J. L. / Neuroblastoma and related tumors in Turner's syndrome. In: Journal of Pediatrics. 1997 ; Vol. 131, No. 5. pp. 666-670.
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Neuroblastoma and related tumors in Turner's syndrome. / Blatt, J.; Olshan, A. E.; Lee, P. A.; Ross, J. L.

In: Journal of Pediatrics, Vol. 131, No. 5, 01.01.1997, p. 666-670.

Research output: Contribution to journalArticle

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