Early presentation of familial paraganglioma with SDHB mutation in a 13 year old child and its mother.
Paragangliomas are extradadrenal neuroendocrine tumors, recently associated with gene mutations in the succinate dehydrogenase complex (SDH). These mutations are thought to be responsible for the familial paraganglioma syndrome. Average age of tumor diagnosis for SDH mutation carriers is about 30 years of age, but patients younger than 10 years have been reported. We present the case of a 13 year-old boy with abdominal paraganglioma, whose mother also had a history of thoracic paraganglioma diagnosed at 14 years of age. Both were found to carry a mutation in exon 4 of the SDHB gene, heterozygous for c.418G>T, p.Val140Phe sequence. Compared to the other SDH subtypes, SDHB associated tumors have been found to be much more aggressive. This has led to current recommendations that tumor screening of asymptomatic SDHB carriers should start as early as 10 years of age. An even earlier initiation seems warranted for the identified carriers in this family.
Santiago
Angela H
AH
Pediatric Endocrinology, Connecticut Children's Medical Center, Hartford, CT, USA. Asantiago@ccmckids.org
Campbell
Brendan T
BT
Estrada
D Elizabeth
DE
D000293:Adolescent; D000328:Adult; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D010236:Paraganglioma, Extra-Adrenal / Q000235:genetics* / Q000601:surgery; D010375:Pedigree; D013385:Succinate Dehydrogenase / Q000235:genetics*; D013899:Thoracic Neoplasms / Q000235:genetics* / Q000601:surgery; D016896:Treatment Outcome
D013385:Succinate Dehydrogenase