G. Eisenhofer et al., Plasma normetanephrine and metanephrine for detecting pheochromocytoma in Von Hippel-Lindau disease and multiple endocrine neoplasia type 2, N ENG J MED, 340(24), 1999, pp. 1872-1879
Citations number
29
Categorie Soggetti
General & Internal Medicine","Medical Research General Topics
Background. The detection of pheochromocytomas in patients at risk for thes
e tumors, such as patients with von Hippel-Lindau disease or multiple endoc
rine neoplasia type 2 (MEN-2), is hindered by the inadequate sensitivity of
commonly available biochemical tests. In this study we evaluated measureme
nts of plasma normetanephrine and metanephrine for detecting pheochromocyto
mas in patients with von Hippel-Lindau disease or MEN-2.
Methods. We studied 26 patients with von Hippel-Lindau disease and 9 patien
ts with MEN-2 who had histologically verified pheochromocytomas and 50 pati
ents with von Hippel-Lindau disease or MEN-2 who had no radiologic evidence
of pheochromocytoma. Von Hippel-Lindau disease and MEN-2 were diagnosed on
the basis of germ-line mutations of the appropriate genes. The plasma conc
entrations of normetanephrine and metanephrine were compared with the plasm
a concentrations of catecholamines (norepinephrine and epinephrine) and uri
nary excretion of catecholamines, metanephrines, and vanillylmandelic acid.
Results. The sensitivity of measurements of plasma normetanephrine and meta
nephrine for the detection of tumors was 97 percent, whereas the other bioc
hemical tests had a sensitivity of only 47 to 74 percent. All patients with
MEN-2 had high plasma concentrations of metanephrine, whereas the patients
with von Hippel-Lindau disease had almost exclusively high plasma concentr
ations of only normetanephrine. One patient with von Hippel-Lindau disease
had a normal plasma normetanephrine concentration; this patient had a very
small adrenal tumor (< 1 cm). The high sensitivity of measurements of plasm
a normetanephrine and metanephrine was accompanied by a high level of speci
ficity (96 percent).
Conclusions. Measurements of plasma normetanephrine and metanephrine are us
eful in screening for pheochromocytomas in patients with a familiar predisp
osition to these tumors. (N Engl J Med 1999; 340:1872-9.) (C) 1999, Massach
usetts Medical Society.