Andreas Machens1, Malik Elwerr2, Kerstin Lorenz2, Frank Weber3, Henning Dralle2,3. 1. Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, D-06097, Halle (Saale), Germany. AndreasMachens@aol.com. 2. Medical Faculty, Department of Visceral, Vascular and Endocrine Surgery, Martin Luther University Halle-Wittenberg, Ernst-Grube-Str. 40, D-06097, Halle (Saale), Germany. 3. Department of General, Visceral and Transplantation Surgery, Section of Endocrine Surgery, University of Duisburg-Essen, D-45122, Essen, Germany.
Abstract
PURPOSE: To determine whether published disease penetrance estimates of 50% for pheochromocytoma and 20-30% for primary hyperparathyroidism in multiple endocrine neoplasia (MEN 2A), conceivably reflecting overrepresentation of index patients with completely developed MEN 2A, may be too high. METHODS: Cross-sectional study of carriers at high risk of MEN 2A from a tertiary referral center. RESULTS: There were 213 carriers of RET mutations in codon 634, born between 1922 and 2014. Median age of thyroidectomy was 17 years, with MTC being present in 76.5%; pheochromocytoma in 31.0% at a median of 34 years in the first, and in 18.8% at a median of 35 years in the second adrenal; and primary hyperparathyroidism in 10.8% at a median of 39 years. MTC, pheochromocytoma and primary hyperparathyroidism, stratified by year of birth, were diagnosed earlier over time: for MTC from 51 to 4 years; for pheochromocytoma from 51 to 22.5 years in the first, and from 51 to 29.5 years in the second adrenal, and for primary hyperparathyroidism from 46 to 12 years (P ≤ 0.008). This decline in age was paralleled by diminishing tumor diameters, more strongly in the thyroid (from 20 to 1.8 mm; P < 0.001) than in the adrenals (from 43 to 30 mm in the first, and from 20-57.5 to 30.5 mm in the second adrenal; statistically nonsignificant). CONCLUSIONS: The lower disease penetrance estimates and sluggish decline of adrenal tumor diameters call for more widespread adoption of adrenal-sparing and parathyroid preservation surgery based on early and regular biochemical screening.
PURPOSE: To determine whether published disease penetrance estimates of 50% for pheochromocytoma and 20-30% for primary hyperparathyroidism in multiple endocrine neoplasia (MEN 2A), conceivably reflecting overrepresentation of index patients with completely developed MEN 2A, may be too high. METHODS: Cross-sectional study of carriers at high risk of MEN 2A from a tertiary referral center. RESULTS: There were 213 carriers of RET mutations in codon 634, born between 1922 and 2014. Median age of thyroidectomy was 17 years, with MTC being present in 76.5%; pheochromocytoma in 31.0% at a median of 34 years in the first, and in 18.8% at a median of 35 years in the second adrenal; and primary hyperparathyroidism in 10.8% at a median of 39 years. MTC, pheochromocytoma and primary hyperparathyroidism, stratified by year of birth, were diagnosed earlier over time: for MTC from 51 to 4 years; for pheochromocytoma from 51 to 22.5 years in the first, and from 51 to 29.5 years in the second adrenal, and for primary hyperparathyroidism from 46 to 12 years (P ≤ 0.008). This decline in age was paralleled by diminishing tumor diameters, more strongly in the thyroid (from 20 to 1.8 mm; P < 0.001) than in the adrenals (from 43 to 30 mm in the first, and from 20-57.5 to 30.5 mm in the second adrenal; statistically nonsignificant). CONCLUSIONS: The lower disease penetrance estimates and sluggish decline of adrenal tumor diameters call for more widespread adoption of adrenal-sparing and parathyroid preservation surgery based on early and regular biochemical screening.
Authors: Hartmut P H Neumann; Uliana Tsoy; Irina Bancos; Vincent Amodru; Martin K Walz; Amit Tirosh; Ravinder Jeet Kaur; Travis McKenzie; Xiaoping Qi; Tushar Bandgar; Roman Petrov; Marina Y Yukina; Anna Roslyakova; Anouk N A van der Horst-Schrivers; Annika M A Berends; Ana O Hoff; Luciana Audi Castroneves; Alfonso Massimiliano Ferrara; Silvia Rizzati; Caterina Mian; Sarka Dvorakova; Kornelia Hasse-Lazar; Andrey Kvachenyuk; Mariola Peczkowska; Paola Loli; Feyza Erenler; Tobias Krauss; Madson Q Almeida; Longfei Liu; Feizhou Zhu; Mònica Recasens; Nelson Wohllk; Eleonora P M Corssmit; Zulfiya Shafigullina; Jan Calissendorff; Simona Grozinsky-Glasberg; Tada Kunavisarut; Camilla Schalin-Jäntti; Frederic Castinetti; Petr Vlcek; Dmitry Beltsevich; Viacheslav I Egorov; Francesca Schiavi; Thera P Links; Ronald M Lechan; Birke Bausch; William F Young; Charis Eng Journal: JAMA Netw Open Date: 2019-08-02