Medular carcinoma of the thyroid: revisiting the clinical, molecular biological, biochemical and biological aspects following findings of molecular genetics

• Grant number: 06/60402-1
• Support type: Research Projects - Thematic Grants
• Duration: May 01, 2007 - October 31, 2011
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal researcher: Rui Monteiro de Barros Maciel
• Grantee: Rui Monteiro de Barros Maciel
• Home Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• Pesquisadores principais: João Roberto Maciel Martins ; José Gilberto Henriques Vieira ; Magnus Régios Dias da Silva
• Associated scholarship(s): 11/04143-5 - Investigation of genetic events associated with clinical heterogeneity in a family with medullary thyroid carcinoma and RET gene mutation G533C, BP.MS

Abstract

To undertake clinical, biochemical, molecular and of the development of the medullar carcinoma of hereditary thyroid (MTC). Projects: 1) to develop a Brazilian consortium for genetic diagnosis, treatment and follow-up of MCT and of the symptoms of type 2 multiple endocrine neoplasm (MEN2A, MEN2B); 2) complete clinical characterization of patients with MCT of the family with G533C mutation; 3) to describe anatomo-pathological characteristics of the thyroidean tissue of patients with MCT of the family with G533C mutation; 4) to develop a test sensitive to calcitonin for diagnosis and follow-up of patients of the BRASMEN consortium; 5) to characterize polymorphisms of the RET gene in the BRASMEN population and their relation to expression of the disease; 6) to validate functionally mutations of the RET gene in the BRASMEN population; 7) to develop an embryonic model of tumor genesis in hen embryo by somatic transgenesis for the study of the development of MTC in vivo; 8) to characterize expression of glycosaminoglycans, proteoglycans and heparanase in MCT tissues. (AU)

Scientific publications

(19)

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

MACIEL, RUI M. B.; CAMACHO, CLEBER P.; ASSUMPCAO, LIGIA V. M.; BUFALO, NATASSIA E.; CARVALHO, ANDRE L.; DE CARVALHO, GISAH A.; CASTRONEVES, LUCIANA A.; DE CASTRO JR, FRANCISCO M.; CEOLIN, LUCIELI; CERUTTI, JANETE M.; et al. Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study. ENDOCRINE CONNECTIONS, v. 8, n. 3, p. 289-298, MAR 2019. (14/06570-6, 06/60402-1, 13/01476-9, 12/21942-1)

YANG, JI H.; MACIEL, RUI M. B.; NAKABASHI, CLAUDIA C. D.; JANOVSKY, CAROLINA C. P. S.; PADOVANI, ROSALIA P.; MACELLARO, DANIELLE; CAMACHO, CLEBER P.; OSAWA, AKEMI; WAGNER, JAIRO; BISCOLLA, ROSA PAULA M.. Clinical utility of F-18-FDG PET/CT in the follow-up of a large cohort of patients with high-risk differentiated thyroid carcinoma. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 61, n. 5, p. 416-425, SEP-OCT 2017. (06/60402-1)

JI H. YANG; RUI M. B. MACIEL; CLAUDIA C. D. NAKABASHI; CAROLINA C. P. S. JANOVSKY; ROSALIA P. PADOVANI; DANIELLE MACELLARO; CLÉBER P. CAMACHO; AKEMI OSAWA; JAIRO WAGNER; ROSA PAULA M. BISCOLLA. Clinical utility of 18F-FDG PET/CT in the follow-up of a large cohort of patients with high-risk differentiated thyroid carcinoma. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 61, n. 5, p. 416-425, 2017-09-18. (06/60402-1)

MARTINS-COSTA, M. CECLIA; CUNHA, LUCAS L.; LINDSEY, SUSAN C.; CAMACHO, CLEBER P.; DOTTO, RENATA P.; FURUZAWA, GILBERTO K.; SOUSA, M. SHARMILA A.; KASAMATSU, TERESA S.; KUNII, ILDA S.; MARTINS, MRCIO M.; et al. M918V RET mutation causes familial medullary thyroid carcinoma: study of 8 affected kindreds. Endocrine-Related Cancer, v. 23, n. 12, p. 909-920, DEC 2016. (06/60402-1, 14/06570-6, 12/21942-1)

TOLEDO, RODRIGO A.; HATAKANA, ROXANNE; LOURENCO, JR., DELMAR M.; LINDSEY, SUSAN C.; CAMACHO, CLEBER P.; ALMEIDA, MARCIO; LIMA, JR., JOSE V.; SEKIYA, TOMOKO; GARRALDA, ELENA; NASLAVSKY, MICHEL S.; et al. Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility. Endocrine-Related Cancer, v. 22, n. 1, p. 65-76, FEB 2015. (06/60402-1, 13/01476-9)

SIGNORINI, PRISCILA S.; FRANCA, MARIA INEZ C.; CAMACHO, CLEBER P.; LINDSEY, SUSAN C.; VALENTE, FLAVIA O. F.; KASAMATSU, TERESA S.; MACHADO, ALBERTO L.; SALIM, CAMILA P.; DELCELO, ROSANA; HOFF, ANA O.; et al. A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma emphasizes the need for an individualized assessment of affected relatives. CLINICAL ENDOCRINOLOGY, v. 80, n. 2, p. 235-245, FEB 2014. (06/60402-1)

YANG, JI H.; CAMACHO, CLEBER P.; LINDSEY, SUSAN C.; VALENTE, FLAVIA O. F.; ANDREONI, DANIELLE M.; YAMAGA, LILIAN Y.; WAGNER, JAIRO; BISCOLLA, ROSA PAULA M.; MACIEL, RUI M. B.. THE COMBINED USE OF CALCITONIN DOUBLING TIME AND F-18-FDG PET/CT IMPROVES PROGNOSTIC VALUES IN MEDULLARY THYROID CARCINOMA: THE CLINICAL UTILITY OF F-18-FDG PET/CT. ENDOCRINE PRACTICE, v. 23, n. 8, p. 942-948, AUG 2017. (06/60402-1)

SIVIERO-MIACHON, ADRIANA A.; KIZYS, MARINA M. L.; RIBEIRO, MANUELA M.; GARCIA, FABIOLA ESGRIGNOLI; SPINOLA-CASTRO, ANGELA M.; DIAS DA SILVA, MAGNUS R.. Cosegregation of a novel mutation in the sixth transmembrane segment of the luteinizing/choriogonadotropin hormone receptor with two Brazilian siblings with severe testotoxicosis. ENDOCRINE RESEARCH, v. 42, n. 2, p. 117-124, 2017. (06/60402-1, 11/20747-8, 12/01628-0, 14/15948-2)

MACIEL, RUI M. B.; MAIA, ANA LUIZA. LOBAL ENDOCRINOLOGY: Geographical variation in the profile of RET variants in patients with medullary thyroid cancer: a comprehensive revie. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 186, n. 1, p. R15-R30, JAN 1 2022. (13/01476-9, 14/06570-6, 06/60402-1)

CAMACHO, CLEBER P.; LINDSEY, SUSAN C.; MELO, MARIA CLARA C.; YANG, JI H.; GERMANO-NETO, FAUSTO; VALENTE, FLAVIA DE O. F.; LIMA, THIAGO R. N.; BISCOLLA, ROSA PAULA M.; VIEIRA, JOSE G. H.; CERUTTI, JANETE M.; et al. Measurement of Calcitonin and Calcitonin Gene-Related Peptide mRNA Refines the Management of Patients with Medullary Thyroid Cancer and May Replace Calcitonin-Stimulation Tests. THYROID, v. 23, n. 3, p. 308-316, MAR 2013. (06/60402-1, 11/20747-8, 09/11257-7)

OLIVEIRA, MARIANA N. L.; HEMERLY, JEFFERSON P.; BASTOS, ANDRE U.; TAMANAHA, ROSANA; LATINI, FLAVIA R. M.; CAMACHO, CLEBER P.; IMPELLIZZERI, ANELISE; MACIEL, RUI M. B.; CERUTTI, JANETE M.. The RET p.G533C Mutation Confers Predisposition to Multiple Endocrine Neoplasia Type 2A in a Brazilian Kindred and Is Able to Induce a Malignant Phenotype In Vitro and In Vivo. THYROID, v. 21, n. 9, p. 975-985, SEP 2011. (06/60402-1, 05/60330-8, 09/11257-7)

TAMANAHA, ROSANA; CAMACHO, CLEBER P.; PEREIRA, ALEXANDRE C.; ALVARES DA SILVA, ADRIANA M.; MACIEL, RUI M. B.; CERUTTI, JANETE M.. Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation. CLINICAL ENDOCRINOLOGY, v. 71, n. 1, p. 56-64, JUL 2009. (06/60402-1, 05/60330-8)

ROLIM, ANA LUIZA R.; LINDSEY, SUSAN C.; KUNII, ILDA S.; CRISPIM, FELIPE; MOISES, REGINA CELIA M. S.; MACIEL, RUI M. B.; DIAS-DA-SILVA, MAGNUS R.. The insulin-sensitivity sulphonylurea receptor variant is associated with thyrotoxic paralysis. JOURNAL OF MOLECULAR ENDOCRINOLOGY, v. 53, n. 2, p. 295-301, OCT 2014. (06/60402-1, 11/20747-8)

YANG, JI H.; LINDSEY, SUSAN C.; CAMACHO, CLEBER P.; VALENTE, FLAVIA O. F.; GERMANO-NETO, FAUSTO; MACHADO, ALBERTO L.; MAMONE, MARIA CONCEICAO O. C.; BRODSKYN, FABIO; BISCOLLA, ROSA PAULA M.; TUTTLE, ROBERT MICHAEL; et al. Integration of a postoperative calcitonin measurement into an anatomical staging system improves initial risk stratification in medullary thyroid cancer. Clinical Endocrinology, v. 83, n. 6, p. 938-942, DEC 2015. (06/60402-1)

CUNHA, LUCAS L.; LINDSEY, SUSAN C.; FRANCA, MARIA INEZ C.; SARIKA, LEDA; PAPATHOMA, ALEXANDRA; KUNII, ILDA S.; CERUTTI, JANETE M.; DIAS-DA-SILVA, MAGNUS R.; ALEVIZAKI, MARIA; MACIEL, RUI M. B.. Evidence for the founder effect of RET533 as the common Greek and Brazilian ancestor spreading multiple endocrine neoplasia 2A. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 176, n. 5, p. 515-519, MAY 2017. (14/06570-6, 06/60402-1)

ALVES, THALITA G.; KASAMATSU, TERESA S.; YANG, JI H.; MENEGHETTI, MARIA CECILIA Z.; MENDES, ALINE; KUNII, ILDA S.; LINDSEY, SUSAN C.; CAMACHO, CLEBER P.; DIAS DA SILVA, MAGNUS R.; MACIEL, RUI M. B.; et al. Macrocalcitonin Is a Novel Pitfall in the Routine of Serum Calcitonin Immunoassay. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. 101, n. 2, p. 653-658, FEB 2016. (06/60402-1)

VENTERS‚ S.J.; DIAS DA SILVA‚ M.R.; HYER‚ J.. Murine retroviruses re-engineered for lineage tracing and expression of toxic genes in the developing chick embryo. DEVELOPMENTAL DYNAMICS, v. 237, n. 11, p. 3260-3269, 2008. (06/60402-1)

CORREA-SILVA, SILVIA REGINA; FAUSTO, JESSICA DA SILVA; LETRO KIZYS, MARINA MALTA; FILIPELLI, RAFAEL; MARCO ANTONIO, DAVID SANTOS; OKU, ANDRE YUJI; FURUZAWA, GILBERTO KOITI; HERNANDEZ ORCHARD, EUGENIA VERONICA; COSTA-BARBOSA, FLAVIA AMANDA; MITNE-NETO, MIGUEL; et al. A novel GNRHR gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred. Journal of Neuroendocrinology, v. 30, n. 12, DEC 2018. (12/00079-3, 06/60402-1)

RODRIGUES LEMES, ROBERTHA MARIANA; COSTA, ANGELICA JARDIM; BARTOLOMEO, CYNTHIA SILVA; BASSANI, TAYSA BERVIAN; NISHINO, MICHELLE SAYURI; DA SILVA PEREIRA, GUSTAVO JOSE; SMAILI, SORAYA SOUBHI; DE BARROS MACIEL, RUI MONTEIRO; BRACONI, CARLA TORRES; DA CRUZ, EDGAR FERREIRA; et al. 17 beta-estradiol reduces SARS-CoV-2 infection in vitro. PHYSIOLOGICAL REPORTS, v. 9, n. 2, JAN 2021. (16/20796-2, 06/60402-1, 18/06088-0, 20/06153-7, 19/10922-9, 20/04709-8)