PHEOCHROMOCYTOMAS IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A (MEN 2A): CLINICAL FEATURES FROM THE SPANISH NATIONAL DATABASE

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 292-305-MEN1, MEN2 & Pheochromocytomas
Basic/Clinical
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-298
Nuria Valdés*1, Elena Navarro2, Javier Tébar3, Paloma Portillo3, Lluís Forga4, Jordi Mesa5, Anna Casterás6, Victoria Alcázar7, Jessica Ares8 and Margarita Gonzalez9
1Hospital Central de Asturias, Spain, 2Hospital Virgen del Rocío, 3Hospital Virgen de la Arrixaca, 4Complejo Hospitalario de Navarra, 5Cutat Univ Vall D'Hebron, Sant Cugat Del Valle, Spain, 6Cutat Univ Vall D'Hebron,, 7Hospital Severo Ochoa, 8Hospital Central de Asturias, 9Hospital Can Misses
INTRODUCTION:MEN 2A is a rare syndrome involving medullary thyroid carcinoma (MTC) in 90% of adult gene carriers, unilateral or bilateral pheochromocytoma (PHEO) in 50%,and multigland parathyroid disease (HPT) in 20-30%. Due to the relative infrequency of PHEO few data on clinical presentation and management are available.

OBJECTIVE:The aim of this study was to analyse the clinical outcomes and genetic characteristics of PHEO from Spanish MEN 2A patients.

METHODS:This retrospective study was obtained from the cases registered by the Spanish Group for the Study of Multiple Endocrine Neoplasia in an online national database. We collected data about PHEO from January 2009 to December 2011.

RESULTS:There were data on 233 patients belonging to 84 unrelated kindreds.PHEO was present in 104 patients (45.21%) at a mean age of 35.2±13.6 (15-77) years.35.5% were diagnosed at the same time with MTC, and in the remaining patients,PHEO was present after the thyroid disease, with a mean interval of 5 years (1-24 years).All but one had MTC. Only 8 patients also developed HPT and 2 patients had MTC,PHEO and cutaneous lichen amyloidosis.Age-related penetrance was 35% by age 30 and 82% by age 50. 48.5% had symptoms related to PHEO, mainly hypertension in 30%,only 7% showed the typical triad. At the time of diagnosis 57.7% patients had bilateral adrenal involvement.101 patients underwent surgery: bilateral adrenalectomy was performed in 59 patients. Only one of them developed an extra-adrenal PHEO 16 years after bilateral adrenalectomy. 42 patients underwent unilateral adrenalectomy on the affected side. One of them had persistent disease and 7 patients developed recurrence disease in the contralateral gland, the mean relapse time was 7.1±5.9 (3-18) years. The estimated 5-and 20-year cumulative risk of developing recurrent contralateral PHEO was 10.9% and 24.1%, respectively. 89% of RETgene mutations were located in codon 634, the most common RET amino acid substitution was Cys634Tyr (75%) followed by Cys634Arg (10.7%). We found that 57% of patients carrying Cys634Arg mutation developed PHEO before 30 years in contrast with 28.5% of Cys634Tyr genetic carries (P=0.042).

CONCLUSIONS:The clinical characteristics of pheochromocytoma in MEN 2A Spanish patients are similar than the ones previous published.Unilateral adrenalectomy is a reasonable option in patients with unilateral adrenal involvement because it has a low rate of recurrence in the long term.

Nothing to Disclose: NV, EN, JT, PP, LF, JM, AC, VA, JA, MG

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm