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Submitted on October 24, 2006
Accepted on December 21, 2006
Reproductive Biology and Medicine Branch, National Institutes of Child Health and Human Development, Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke and Laboratory of Clinical Genetics, National Institutes of Health, Bethesda, Maryland, USA. Department of Internal Medicine, Division of General Internal Medicine and Department of Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
* To whom correspondence should be addressed. E-mail: karel{at}mail.nih.gov.
Context: mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to malignant paraganglioma (PGL). Recognition of the SDHB phenotype in apparently sporadic PGL directs appropriate treatment and family screening.
Objective: to assess mutation-specific clinical and biochemical characteristics of SDHB-related PGL
Design: retrospective descriptive
Patients: 29 patients (16 males) with SDHB-related abdominal or thoracic PGL
Intervention: none
Main outcome measures: clinical presentations, plasma and urine concentrations of catecholamines and O-methylated metabolites, and genotype-phenotype correlations
Results: mean±SD age at diagnosis was 33.7±15.7 years. Tumor related pain was among the presenting symptoms in 54% of patients, and was the sole symptom in 14%. Seventy-six percent had hypertension and 90% lacked a family history of PGL. All primary tumors but one originated from extra-adrenal locations. Mean±SD tumor size was 7.8±3.7 cm. In this referral-based study, 28% presented with metastatic disease and all but one eventually developed metastases after 2.7±4.1 years. Ten percent had additional head and neck PGLs. The biochemical phenotype was consistent with hypersecretion of both norepinephrine and dopamine in 46%, norepinephrine only in 41% and dopamine only in 3%. Ten percent had normal catecholamine (metabolite) levels, consistent with ‘biochemically silent’ PGL. No obvious genotype-phenotype correlations were identified.
Conclusions: SDHB-related PGL often presents as apparently sporadic PGL with symptoms related to tumor mass effect rather than to catecholamine excess. The predominant biochemical phenotype consists of hypersecretion of norepinephrine and/or dopamine, whereas 10% of tumors are biochemically silent. The clinical expression of these tumors cannot be predicted by the genotype.
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