Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.
OBJECTIVE
The aim of this study was to identify the prevalence of catecholamine excess and phaeochromocytomas in a well-defined population of people with hereditary head and neck paragangliomas.


METHODS
We studied in a prospective follow-up protocol all consecutive patients referred to the Department of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands with documented head and neck paragangliomas and either a positive family history for paragangliomas or a proven SDHD gene mutation. Initial analysis included medical history, physical examination and the measurement of excretion of catecholamines in two 24-h urine collections. In the case of documented catecholamine excess iodinated meta-iodobenzylguanidine (123I-MIBG) scintigraphy and magnetic resonance imaging were done.


RESULTS
Between 1988 and 2003, 40 consecutive patients (20 male and 20 female) with documented head and neck paragangliomas were screened. Biochemical screening revealed urinary catecholamine excess in 15 patients (37.5%). In nine of these 15 patients a lesion was found by 123I-MIBG scintigraphy. Exact localization by magnetic resonance imaging revealed phaeochromocytomas in seven of the 15 patients. One of the nine patients had an extra-adrenal paraganglioma. Histopathological examination in a subset of tumors displayed loss of heterozygosity of the wild-type SDHD allele in all cases.


CONCLUSIONS
The prevalence of catecholamine excess (37.5%) and phaeochromocytomas (20.0%) is high in patients with familial head and neck paragangliomas. Therefore, patients with hereditary head and neck paragangliomas require lifelong follow up by biochemical testing for catecholamine excess.
van Houtum
W H
WH
Leiden University Medical Center, Departments of Endocrinology and Metabolic Diseases, Leiden, The Netherlands.
Corssmit
E P M
EP
Douwes Dekker
P B
PB
Jansen
J C
JC
van der Mey
A G L
AG
Bröcker-Vriends
A H J T
AH
Taschner
P E M
PE
Losekoot
M
M
Frölich
M
M
Stokkel
M P M
MP
Cornelisse
C J
CJ
Romijn
J A
JA
D000310:Adrenal Gland Neoplasms / Q000235:genetics / Q000378:metabolism / Q000652:urine*; D000328:Adult; D002395:Catecholamines / Q000652:urine*; D015331:Cohort Studies; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D018095:Germ-Line Mutation; D006258:Head and Neck Neoplasms / Q000235:genetics / Q000652:urine*; D006801:Humans; D007093:Imidazoles; D019656:Loss of Heterozygosity / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D010235:Paraganglioma / Q000235:genetics / Q000652:urine*; D010673:Pheochromocytoma / Q000235:genetics / Q000652:urine*; D011446:Prospective Studies; D013385:Succinate Dehydrogenase
D002395:Catecholamines; D004273:DNA, Neoplasm; D007093:Imidazoles; D008565:Membrane Proteins; C491545:SDHD protein, human; D013385:Succinate Dehydrogenase; C084784:neticonazole