Pheochromocytoma in multiple endocrine neoplasia type 2: a prospective study.
OBJECTIVE
The aim of this prospective study is to update our knowledge of the chronology of pheochromocytoma occurrence in multiple endocrine neoplasia type 2 (MEN 2), and to better manage MEN 2 patients after the genetic diagnosis.


METHODS
Eighty-seven non-index gene carrier MEN 2 patients were included in this prospective study: 84 patients with MEN 2A (from 52 families) and 3 with MEN 2B (from 3 families).


METHODS
Medullary thyroid carcinoma (MTC) was diagnosed by measuring plasma calcitonin in basal conditions or after pentagastrin stimulation. The search for pheochromocytoma consisted of clinical evaluation, 24 h determination of urinary catecholamines and adrenal imaging. The mean age at genetic diagnosis of MEN 2 was 14.0+/-7.0 years, the mean duration for the follow-up was 7.6+/-2.8 years.


RESULTS
All 87 patients had a MTC detected at the same time as the genetic diagnosis was made. Urinary catecholamine measurements led to the diagnosis of pheochromocytoma and a combination of imaging techniques enabled the correct localization of both unilateral or bilateral adrenal involvement. Pheochromocytoma was detected simultaneously with MTC in only seven patients, and seven others were detected throughout the follow-up. Of the 14 patients with pheochromocytoma, 11 had bilateral involvement: nine were initially bilateral and two became so during follow-up.


CONCLUSIONS
This study demonstrates that in MEN 2, MTC is the lesion which appears earliest. Pheochromocytoma develops later during the evolution of the disease, and necessitates regular clinical and biological monitoring throughout follow-up. Determination of urinary and/or plasma catecholamines and metanephrines should be performed to detect pheochromocytoma. Imaging techniques lead to the detection of both unilateral and bilateral pheochromocytoma, thus making video-assisted laparoscopic adrenalectomy possible.
Nguyen
L
L
Service d'Endocrinologie, Hôpital de la Timone, Marseille, France.
Niccoli-Sire
P
P
Caron
P
P
Bastie
D
D
Maes
B
B
Chabrier
G
G
Chabre
O
O
Rohmer
V
V
Lecomte
P
P
Henry
J F
JF
Conte-Devolx
B
B
D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000328:Adult; D002116:Calcitonin / Q000097:blood; D018276:Carcinoma, Medullary / Q000175:diagnosis; D002395:Catecholamines / Q000097:blood / Q000652:urine; D002648:Child; D002675:Child, Preschool; D029721:Drosophila Proteins; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008676:Metanephrine / Q000097:blood / Q000652:urine; D018813:Multiple Endocrine Neoplasia Type 2a / Q000235:genetics*; D018814:Multiple Endocrine Neoplasia Type 2b / Q000235:genetics; D009154:Mutation; D010418:Pentagastrin; D010673:Pheochromocytoma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D011446:Prospective Studies; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis; D014057:Tomography, X-Ray Computed
D002395:Catecholamines; D029721:Drosophila Proteins; D011518:Proto-Oncogene Proteins; D008676:Metanephrine; D002116:Calcitonin; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila; D010418:Pentagastrin