ISSN-1807-5932
CLINICS
CONTENTS
Clinics 2012 67(S1):1–178
EDITORIAL
Multiple endocrine neoplasias: an overview of recent progress
Mauricio Rocha-e-Silva, Sergio P. A. Toledo . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .1
REVIEWS
Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine
neoplasias in Brazil
Rodrigo A. Toledo, Tomoko Sekiya, Viviane C. Longuini, Flavia L. Coutinho, Delmar M. Lourenço Jr, Sergio P. A.
Toledo . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .3
Multiple endocrine neoplasia: the Chilean experience
René E. Diaz, Nelson Wohllk . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .7
MENX and MEN4
Natalia S. Pellegata . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13
Head and neck paragangliomas: clinical and molecular genetic classification
Christian Offergeld, Christoph Brase, Svetlana Yaremchuk, Irina Mader, Hans Christian Rischke, Sven Gläsker, Kurt W
Schmid, Thorsten Wiech, Simon F Preuss, Carlos Suárez, Tomasz Kopeć, Attila Patocs, Nelson Wohllk, Mahdi Malekpour,
Carsten C Boedeker, Hartmut PH Neumann . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
Familial gigantism
Wouter W. de Herder . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 29
RET codon 609 mutations: a contribution for better clinical managing
Caterina Mian, Paola Sartorato, Susi Barollo, Mariangela Zane, Giuseppe Opocher . . . . . . . . . . . . . . . . . . . . . . . . . 33
Clinical and genetic aspects of familial isolated pituitary adenomas
Vladimir Vasilev, Adrian Daly, Luciana Naves, Sabina Zacharieva, Albert Beckers . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Pituitary tumors in patients with MEN1 syndrome
Luis V. Syro, Bernd W. Scheithauer (in memoriam), Kalman Kovacs, Rodrigo A. Toledo, Francisco J. Londoño, Leon D.
Ortiz, Fabio Rotondo, Eva Horvath, Humberto Uribe . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43
Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a
genotype–phenotype correlation
Cornelis J. Lips, Koen M. Dreijerink, Jo W. Höppener . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49
RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in
a novel MEN2 family
Elisangela P. S. Quedas, Viviane C. Longuini, Tomoko Sekiya, Flavia L. Coutinho, Sergio P. A. Toledo, Uenis Tannuri,
Rodrigo A. Toledo . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 57
The Hirschsprung’s–multiple endocrine neoplasia connection
Sam W. Moore, Monique Zaahl . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 63
Genotype-phenotype correlation in multiple endocrine neoplasia type 2
Friedhelm Raue, Karin Frank-Raue . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 69
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2
Simona M. Wagner, ShuJun Zhu, Adrian C. Nicolescu, Lois M. Mulligan . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77
CLINICAL SCIENCE
Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A
syndrome
Nikoletta Lendvai, Miklos Tóth, Zsuzsanna Valkusz, Gabriella Bekő, Nikolette Szücs, Éva Csajbók, Péter Igaz,
Balázs Kriszt, Balázs Kovács, Károly Rácz, Attila Patócs . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 85
REVIEWS
Personalized medicine: caught between hope, hype and the real world
Marc Dammann, Frank Weber . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91
Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine
neoplasia type 1
Delmar M. Lourenço Jr, Flavia L. Coutinho, Rodrigo A. Toledo, Tatiana Denck Gonçalves, Fabio L. M. Montenegro,
Sergio P. A. Toledo . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99
Diagnostic work-up of gastroenteropancreatic neuroendocrine tumors
Kjell Öberg . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 109
Multiple endocrine neoplasia type 2: achievements and current challenges
Andreas Machens, Henning Dralle. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 113
Temozolomide in aggressive pituitary adenomas and carcinomas
Leon D. Ortiz, Luis V. Syro, Bernd W. Scheithauer (in memoriam), Fabio Rotondo, Humberto Uribe, Camilo E. Fadul,
Eva Horvath, Kalman Kovacs. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 119
Kinase inhibitors for advanced medullary thyroid carcinoma
Martin Schlumberger, Marie-Hélène Massicotte, Camila L. Nascimento, Cécile Chougnet, Eric Baudin,
Sophie Leboulleux . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 125
Total parathyroidectomy in a large cohort of cases with hyperparathyroidism associated with multiple
endocrine neoplasia type 1: experience from a single academic center
Fabio Luiz de Menezes Montenegro, Delmar Muniz Lourenço Junior, Marcos Roberto Tavares, Sergio Samir Arap, Climerio
Pereira Nascimento Junior, Ledo Mazzei Massoni Neto, André D’Alessandro, Rodrigo Almeida Toledo, Flávia Lima Coutinho,
Lenine Garcia Brandão, Gilberto de Britto e Silva Filho, Anói Castro Cordeiro, Sergio Pereira Almeida Toledo . . . . . . 131
Primary hyperparathyroidism in multiple endocrine neoplasia type 1: when to perform surgery?
Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141
Surgical treatment of pancreatic endocrine tumors in multiple endocrine neoplasia type 1
Marcel Cerqueira Cesar Machado . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 145
Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type
2
Marcos R. Tavares, Sérgio P. A. Toledo, Fábio L. M. Montenegro, Raquel A. Moyses, Rodrigo A. Toledo, Tomoko Sekyia,
Claudio R. Cernea, Lenine G. Brandão . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149
Surgical approach in patients with hyperparathyroidism in multiple endocrine neoplasia type 1: total
versus partial parathyroidectomy
Francesco Tonelli, Francesco Giudici, Tiziana Cavalli, Maria Luisa Brandi. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 155
Retroperitoneoscopic adrenalectomy in pheochromocytoma
Marcelo Hisano, Fabio Carvalho Vicentini, Miguel Srougi . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 161
Post-surgical follow-up of primary hyperparathyroidism associated with multiple endocrine neoplasia
type 1
Flavia L. Coutinho, Delmar M. Lourenco Jr, Rodrigo A. Toledo, Fabio L. M. Montenegro, Sergio P. A. Toledo . . . 169
Surgical management of pancreatico-duodenal tumors in multiple endocrine neoplasia syndrome type
1
Göran Åkerström, Peter Stålberg, Per Hellman. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 173