Pheochromocytoma is a frequent indicator of multiple endocrine neoplasia type 2A (MEN 2A); in the 35 French MEN 2A families in which a pheochromocytoma occurred first in some affected members, 30% of the patients had a pheochromocytoma as the first manifestation constituting 45% of all patients with pheochromocytomas. The finding of a pheochromocytoma is a strong indication for a search for medullary thyroid carcinoma and for initiating family screening

Calmettes, Claude

Caron, Jean

Feingold, Nicole

Rosenberg-Gourgin, Myriam

English

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Henry Ford Hospital Medical Journal Volume 40 Number 3 Article 31 9-1992 Pheochromocytoma: A Frequent Indicator for MEN 2 Claude Calmettes Myriam Rosenberg-Gourgin Jean Caron Nicole Feingold Follow this and additional works at: https://scholarlycommons.henryford.com/hfhmedjournal  Part of the Life Sciences Commons, Medical Specialties Commons, and the Public Health Commons Recommended Citation Calmettes, Claude; Rosenberg-Gourgin, Myriam; Caron, Jean; and Feingold, Nicole (1992) "Pheochromocytoma: A Frequent Indicator for MEN 2," Henry Ford Hospital Medical Journal : Vol. 40 : No. 3 , 276-277. Available at: https://scholarlycommons.henryford.com/hfhmedjournal/vol40/iss3/31 This Article is brought to you for free and open access by Henry Ford Health System Scholarly Commons. It has been accepted for inclusion in Henry Ford Hospital Medical Journal by an authorized editor of Henry Ford Health System Scholarly Commons. Pheochromocytoma: A Frequent Indicator for MEN 2 Claude Calmettes,* Myriam Rosenberg-Gourgin,^  Jean Caron,* and Nicole Feingold* Pheochromocytoma is a frequent indicator of multiple endocrine neoplasia type 2A (MEN 2A): in the 35 French MEN 2 A families in which a pheochromocytoma occurred first in some affected members, 30% of the patients had a pheochromocytoma as the first manifestation constituting 45% of all patients with pheochromocytomas. The finding of a pheochromocytoma is a strong indication for a search for medullary thyroid carcinoma andfor initiating family screening. (Henry Ford Hosp MedJ 1992:40:276-7) Pheochromocytoma is frequently asymptomatically associ-ated with medullary thyroid carcinoma (MTC) in multiple endocrine neoplasia type 2 (MEN 2), Its clinical manifestations are usually subtle as more than 50% of patients are asympto-matic and normotensive (1,2). Using data of the Groupe d'Etude des Tumeurs a Calcitonine (GETC), French Medullary Study Group, we have evaluated the importance of pheochromocy-toma presenting as the initial feature of MEN 2. Material At present, the GETC lists 113 families with hereditary MEN 2 and 66 apparently sporadic cases. Cases of pheochromocy-toma were reported in 62 MEN 2A and in seven MEN 2B fami-ties. From the 62 MEN 2A families, seven have been excluded from this study because of lack of data. Sixty-six MEN 2 cases (33 MEN 2A and 33 MEN 2B) have been classified as appar-ently sporadic because no other cases had yet been found in their families. A pheochromocytoma was present in 28 of these 33 sporadic MEN 2A patients and in 14 of 33 MEN 2B patients. For patients presenting initially with a pheochromocytoma, the MTC diagnosis was made either concomitantly or subsequently (in five cases the diagnosis was made only by a stimulated calci-tonin [CT] procedure). Data Incidence of pheochromocytomas as an initial presentation Pheochromocytoma was the first manifestation in 35 of the 55 selected MEN 2A families (Table 1) (26 index cases and 19 relatives out of 99 MEN patients). The 20 other families without pheochromocytoma presenting first include 41 patients with pheochromocytomas. Among index cases, MTC was detected either clinically or biologically at the same time as or later than the pheochromocytoma, or by anamnesis of a patient with thy-roid tumor. The relatives who had pheochromocytoma(s) as first mani-festations had already undergone adrenal surgery and were dis-covered by anamnesis of the index case during family screen-ing; only a few had been tested for MTC after discovery of the pheochromocytoma. Pheochromocytoma was diagnosed either at the same time as the MTC or subsequently but never during the famdy screening for new cases. In MEN 2B families, no patients were observed with pheo-chromocytoma as the initial presenting condition. In apparently sporadic MEN 2, 62% of the MEN 2A cases and 21% of the MEN 2B cases had pheochromocytoma as the initial manifesta-tion. Table 2 shows the age at diagnosis of index ca.ses in MEN 2A families and of apparently .sporadic MEN 2A cases. Discussion In comparing all MEN 2A families, the proportion of pheo-chromocytomas is significantly higher in those families in which a pheochromocytoma was the initial manifestation in some member (64% versus 47%, P < 0.01). A pheochromocytoma occurring as the initial manifestation appears to be a relatively frequent feature of MEN 2A; in the 35 MEN 2A families in which a pheochromocytoma occurred first in some affected member, 30% of the patients had a pheochro-mocytoma as the first manifestation, constituting 45% ofall pa-tients with pheochromocytomas. In apparently sporadic MEN 2A, 52% of the patients had pheochromocytomas occurring as the first manifestation. A pheochromocytoma occurring first is rare in MEN 2B: no cases were observed in the MEN 2B families and in only one-fourth of the apparently sporadic MEN 2B cases did this occur. This is likely related to the ease of early diagnosis of MTC. Pheo-chromocytoma may occur in less aggressive diseases: the age of diagnosis in cases involving pheochromocytoma is older than the age of cases without it (20.5 versus (4.5 years, and age at Submitted for publication: October 11, 1991. Accepted for puhlicalion: January 27, 1992. *CHU St. Antoine, Paris, France. tUniversity of Paris, Paris, France. tDepartment of Endocrinology, Hopital de la Maison Blanche, Reims, France. Address correspondence to Dr. Calmettes. INSERM U 113, CHU St. Antoine, 27. rue Chaligny, F-7.5 0! 2 Paris, France, 276 Henry Ford Hosp Med J—Vol 40, Nos 3 & 4,1992 Pheochromocytoma as First Indicator of MEN 2—Calmettes et al Table 1 Number of Pheochromocytomas as the Initial Presenting Tumors in MEN 2A Families Table 2 Mean Age at Diagnosis for Index MEN 2A Cases Families With Families Without Pheochromocytomas Pheochromocytomas First (n = 35) First (n = 20) Pheochromocytomas I st 45 0 Total number of pheochromocytomas 99 41 Total patients 156 88 death 32.2 versus 19.3 years). The four patients with pheochro-mocytoma as the first manifestation were 16, 20, 24, and 26 years old at diagnosis. However, the age of discovery of pheo-chromocytoma is younger in MEN 2B than in MEN 2A. Conclusion The frequency of pheochromocytoma as the initial feature of MEN 2 must nol be ignored; even unilateral pheochromocy-toma may be an indicator of MEN 2. The presence of pheochro-mocytoma is an indication for the patient and the patient's rela-tives to be studied systematically for MTC as well as to be tested for von Hippel-Lindau and von Recklinghausen conditions. The results presented here are a reflection of the evolution of improved screening procedures available during the past years. The practice of MTC detection when pheochromocytoma oc-curs and of pheochromocytoma detection when MTC occurs, using accurate means of diagnosis and family screening, will improve the prognosis in these patients and their affected rela-tives. Appearance of Manifestations MEN 2A Families Age at Diagnosis Apparently Sporadic MEN 2A Age at Diagnosis Pheochromocytoma 1st MTC Ist, pheochromocytoma 2nd Without pheochromocytoma 42 yrs (n = 26) 32 yrs (n= 18) 43yrs(n= 11) 44 yrs (n= 15) 33 yrs (n= 13) 33 yrs (n=l ) Pheochromocytoma is quite variably expressed in MEN 2A families and even in different branches of the same family. The factors responsible for this variable expressivity remain to be clarified. Acknowledgments This work was supported in part by INSERM grant 490005. We would like to thank the members of the GETC for data, particularly Drs. S. Casanova, G. Chabrier, C. Houdent, G. Gay, P. I . Guillausseau, J. M. Guliana, E. Modigliani, and P. F. Plouin. References 1. Meer A. Calmettes C. Munck A, Groupe d'Etude des Tumeurs a Calciton-ine (GETC). La neoplasie endocriniei-ine muhiple de type 2B. Etude de 25 cas apparemment sporadiques. Recherche d'elements de pronostic. In: Calmettes C, Guiliana J-M, eds. Medullary thyroid carcinoma. Montrouge. France: John Lib-bey Eurotext, Ltd., 1991:183-5, 2. Saad MF. Ordonez NG, Rashid RK, et al. Medullary carcinoma of the thy-roid: A study of the clinical features and prognostic factors in 161 patients. Med-icine (Baltimore) 1984:63:319-42. Henry Ford Hosp Med J—Vol 40, Nos 3 & 4, 1992 Pheochromocytoma as First Indicator of MEN 2—Calmettes et al 277 

Pheochromocytoma: A Frequent Indicator for MEN 2

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Pheochromocytoma: A Frequent Indicator for MEN 2

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