Document Detail


Occurrence of anaplastic oligodendroglioma in a patient with Williams syndrome: a case report with analysis of mutational profile of tumor.
MedLine Citation:
PMID:  19764675     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Williams syndrome is a rare congenital developmental disorder characterized by a constellation of distinctive facial dysmorphisms, mental retardation, cardiovascular anomalies, infantile hypercalcemia, delayed developmental milestones, dental and musculoskeletal anomalies and distinctive personality traits. A majority of patients with Williams syndrome exhibit a hemizygous micro-deletion of chromosome 7q11.23, which is the locus of some 20-30 genes including the ELN gene that encodes the structural protein elastin. Chromosome 7q contains putative tumor suppressor genes and is one of the chromosomes that are frequently involved in chromosomal aberrations in human malignancies. A paucity of tumors (three) has been reported in the literature to occur in patients with Williams syndrome. We report a case of anaplastic oligodendroglioma that occurred in a 31-year-old man with Williams syndrome. Mutational profiling by loss of heterozygosity analysis using a panel of polymorphic micro-satellite markers indicated combined deletion of chromosome 1p and 19q. We draw attention to this apparently rare or possibly under-reported occurrence of tumors in patients with Williams syndrome and suggest that Central Nervous System [CNS] tumors be considered as differential diagnoses in such patients when they present with unanticipated neurologic symptoms that are not attributable to those commonly associated with Williams syndrome.
Authors:
B I Omalu; U H Nnebe-Agumadu
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Nigerian journal of clinical practice     Volume:  12     ISSN:  1119-3077     ISO Abbreviation:  Niger J Clin Pract     Publication Date:  2009 Jun 
Date Detail:
Created Date:  2009-09-21     Completed Date:  2009-10-14     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101150032     Medline TA:  Niger J Clin Pract     Country:  Nigeria    
Other Details:
Languages:  eng     Pagination:  200-4     Citation Subset:  IM    
Affiliation:
University of Pittsburgh, Pittsburgh, Pennslyvania, USA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Brain Neoplasms / epidemiology*
Comorbidity
DNA Mutational Analysis
Humans
Loss of Heterozygosity
Male
Neurologic Examination
Oligodendroglioma / epidemiology*,  genetics
Parietal Lobe*
Williams Syndrome / epidemiology*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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