Malignant intracranial germioma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.

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Authors	OŠLEJŠKOVÁ Hana HOŘÍNOVÁ Věra ŠTĚRBA Jaroslav PAVELKA Zdeněk BABOVIC - VUKSANOVIC D. DUBSKÁ Lenka VALÍK Dalibor
Year of publication	2008
Type	Article in Periodical
Magazine / Source	Journal Pediatric Hematology Oncology
MU Faculty or unit	Faculty of Medicine
Citation
Field	Oncology and hematology
Keywords	Hedcehog Biosynhtesis Tumours MRI
Description	Smith-Lemli-Opitz syndrome is a rare hereditary autosomal recessive disease characterized by deficiency of 7-dehydrocholesterol reductase. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. To date, predisposition for tumor development is not considered a feature associated with this syndrome. Here, we describe a 16-year-old boy with Smith-Lemli-Opitz syndrome who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor.
Related projects:	Rozlišení a molekulární analýza aloreaktivních a nádorově-specifických T lymfocytů in vitro