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Submitted on March 28, 2007
Accepted on July 12, 2007
Hypertension Unit (LA, PFP), Department of Genetics (LA, NB, APGM, XJ), and Clinical Investigation Centre 9201 (SP), Hôpital Européen Georges Pompidou, AP-HP; Faculté de Médecine René Descartes, Université Paris 5; INSERM U772, Collège de France (LA, NB, XJ, APGR, PFP); Paris, France; Department of Nuclear Medicine and Endocrine Tumors, Institut Gustave Roussy, Villejuif, France (EB, MS); Departments of Endocrinology and Radiology, Institut Cochin-INSERM U-567, Faculté de Médecine René Descartes, Université Paris 5, Paris, France (SS, JB, XB)
* To whom correspondence should be addressed. E-mail: laurence.amar{at}egp.aphp.fr.
Context: Pheochromocytomas and paragangliomas may be malignant either at presentation or during recurrence, but the clinical course of malignant tumors is unpredictable.
Objective: The objective was to analyze survival according to clinical characteristics at diagnosis of malignancy and the presence or absence of SDHB mutations.
Design: This was a retrospective cohort study.
Setting and participants 54 patients with malignant tumors were included. Malignancy was scored according to the presence of metastases or histologically documented lymph-node invasion.
Main Outcome Measure: The main outcome was the specific survival after the diagnosis of the first metastasis.
Results: Germline mutations were identified in SDHB (n=23, including 21 patients with apparently sporadic tumors) and VHL (n=1) genes, and two patients had neurofibromatosis 1. Patients were followed-up from the diagnosis of primary tumor and from the diagnosis of the first metastasis to the present (medians 79 [interquartile range (IQR) 24;190] months) or to death (median 39 [IQR 14;94] months. The five-year probability of survival following the diagnosis of first metastasis was 0·55 [95% CI 0·39–0·69]. Patients with SDHB mutations were younger, more frequently had extra-adrenal tumors and had a shorter metanephrine excretion doubling time. The presence of SDHB mutations was significantly and independently associated with mortality (relative risk 2·7, 95% CI 1·2; 6·4, p=0·021).
Conclusion: SDHB mutations, frequent in patients with malignant pheochromocytomas or paragangliomas, are associated with shorter survival. SDHB genetic testing may therefore be of prognostic value for such patients, even those with an apparently sporadic and/or benign presentation at diagnosis.
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