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February 8, 2006

Paraganglioma Syndrome and Mutations of the

JAMA. 2006;295(6):625. doi:10.1001/jama.295.6.625-a

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.