title: Occurrence of anaplastic oligodendroglioma in a patient with Williams syndrome: a case report with analysis of mutational profile of tumor.
abstract: 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.affiliation: University of Pittsburgh, Pittsburgh, Pennslyvania, USA.
authors.forename: B I
authors.initials: BI
authors.lastname: Omalu
authors.forename: U H
authors.initials: UH
authors.lastname: Nnebe-Agumadu
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000453:epidemiology*; D015897:Comorbidity; D004252:DNA Mutational Analysis; D006801:Humans; D019656:Loss of Heterozygosity; D008297:Male; D009460:Neurologic Examination; D009837:Oligodendroglioma / Q000453:epidemiology* / Q000235:genetics; D010296:Parietal Lobe; D018980:Williams Syndrome / Q000453:epidemiology*