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We read with interest the recent report by Cascon et al1 of three families with a germline SDHB deletion. In particular, we noted that in one family an SDHB deletion carrier was diagnosed with an adrenal neuroblastoma (with metastasis in five homolateral ganglia) at the age of 5 years. Cascon et al1 also reported that both phaeochromocytomas and the neuroblastoma from people with the SDHB deletion showed 1p36 allele loss. This finding suggested a possible association between SDHB mutations and neuroblastoma susceptibility. However, germline or somatic SDHB mutations have not been described previously in neuroblastoma.2 3
Recently we detected an SDHB deletion in a 13-year-old girl with a composite paraganglioma/neuroblastoma. …
Competing interests: none declared.