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To the Editor: In their study of paraganglioma syndrome associated with mutations in the SDHC gene, Dr Schiavi and colleagues¹ have incompletely reviewed the literature. This could affect their conclusions.

First, they stated that the patient in our study of a second mutation in SDHC² had a benign carotid body paraganglioma. This patient corresponds to index case 7 in Tables 4 and 5 in the article, although the citation was erroneously made to another study of ours.³ However, lymph node metastasis was present in this patient, and we therefore reported the tumor to be malignant.² The definition of a malignant head and neck paraganglioma as a tumor with distant metastases, which was used by Schiavi et al, appears arbitrary. Hence, the notion that absence of malignancy is a unique clinical characteristic in patients with SDHC mutations should be viewed with caution.

Second, their article listed 7 SDHC mutation carriers with . . . [Full Text of this Article]

Stephan Niemann, MD
sniemann@partners.org
Institut für Humangenetik
Justus-Liebig-Universität
Giessen, Germany

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