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 Opportunities: Research Projects - Thematic Grants
• Start date: May 01, 2007
• End date: October 31, 2011
• Field of knowledge: Health Sciences - Medicine - Medical Clinics
• Principal Investigator: Rui Monteiro de Barros Maciel
• Grantee: Rui Monteiro de Barros Maciel
• Host Institution: Escola Paulista de Medicina (EPM). Universidade Federal de São Paulo (UNIFESP). Campus São Paulo. São Paulo , SP, Brazil
• City of the host institution: São Paulo
• Principal investigators: 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

(29)

(The scientific publications listed on this page originate from the Web of Science or SciELO databases. Their authors have cited FAPESP grant or fellowship project numbers awarded to Principal Investigators or Fellowship Recipients, whether or not they are among the authors. This information is collected automatically and retrieved directly from those bibliometric databases.)

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)

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)

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, 14/15948-2, 12/01628-0)

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)

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. 5-pg., 2015-12-01. (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)

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. (12/21942-1, 06/60402-1, 14/06570-6)

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)

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. (11/20747-8, 06/60402-1, 09/11257-7)

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. (13/01476-9, 06/60402-1)

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)

CAMACHO, CLEBER P.; HOFF, ANA O.; LINDSEY, SUSAN C.; SIGNORINI, PRISCILA S.; VALENTE, FLAVIA O. F.; OLIVEIRA, MARIANA N. L.; KUNII, ILDA S.; BISCOLLA, ROSA PAULA M.; CERUTTI, JANETE M.; MACIEL, RUI M. B.. Diagnóstico precoce de neoplasia endócrina múltipla tipo 2B: um desafio para os médicos. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 52, n. 8, p. 1393-1398, NOV 2008. (05/60330-8, 06/60402-1)

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. (05/60330-8, 06/60402-1)

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. (05/60330-8, 06/60402-1, 09/11257-7)

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)

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)

GUILHERME AUGUSTO BARCELOS DOMINGUES; MARINA MALTA LETRO KIZYS; CAROLINA CASTRO PORTO SILVA JANOVSKY; RUI MONTEIRO DE BARROS MACIEL; MAGNUS RÉGIOS DIAS-DA-SILVA; JOÃO ROBERTO MACIEL MARTINS; CLEBER PINTO CAMACHO; LUCAS LEITE CUNHA. The impact of the genetic background in a patient with papillary thyroid cancer and familial adenomatous polyposis. ARCHIVES OF ENDOCRINOLOGY METABOLISM, v. 66, n. 1, p. 112-117, 2022-03-08. (06/60402-1)

COSTA, ANGELICA JARDIM; LEMES, ROBERTHA MARIANA RODRIGUES; BARTOLOMEO, CYNTHIA SILVA; NUNES, TAMIRES ALVES; PEREIRA, GABRIELA CRUZ; OLIVEIRA, RAFAELA BRITO; GOMES, ALEXANDRE LOPES; SMAILI, SORAYA SOUBHI; MACIEL, RUI MONTEIRO DE BARROS; NEWSON, LOUISE; et al. Overexpression of estrogen receptor GPER1 and G1 treatment reduces SARS-CoV-2 infection in BEAS-2B bronchial cells. Molecular and Cellular Endocrinology, v. 558, p. 8-pg., 2022-12-01. (20/04709-8, 06/60402-1, 18/06088-0, 20/13480-4, 20/06153-7, 18/02762-9, 16/20796-2, 19/10922-9)

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. (06/60402-1, 12/00079-3)

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)

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)

BARTOLOMEO, CYNTHIA SILVA; LEMES, ROBERTHA MARIANA RODRIGUES; MORAIS, RAFAEL LEITE; PERERIA, GABRIELA CRUZ; NUNES, TAMIRES ALVES; COSTA, ANGELICA JARDIM; MACIEL, RUI MONTEIRO DE BARROS; BRACONI, CARLA TORRES; MARICATO, JULIANA TERZI; JANINI, LUIZ MARIO RAMOS; et al. SARS-CoV-2 infection and replication kinetics in different human cell types: The role of autophagy, cellular metabolism and ACE2 expression. Life Sciences, v. 308, p. 13-pg., 2022-09-07. (20/04709-8, 06/60402-1, 20/06153-7, 20/13480-4, 20/08943-5, 16/20796-2, 19/10922-9)

VALENTE, FLAVIA O. F.; CAMACHO, CLEBER P.; LINDSEY, SUSAN C.; YANG, JI H.; KUNII, ILDA S.; SANTOS, ROBERTO B.; KIZYS, MARINA M. L.; CERUTTI, JANETE M.; DIAS-DA-SILVA, MAGNUS R.; MACIEL, RUI M. B.. RET 634 germline/gonadal mosaicism generating a second pathogenic amino acid change in multiple endocrine neoplasia type 2A. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v. 194, n. 7, p. 5-pg., 2024-02-26. (06/60402-1, 13/01476-9, 14/06570-6, 21/02752-6)

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. 10-pg., 2019-03-01. (13/01476-9, 14/06570-6, 12/21942-1, 06/60402-1)

CAMACHO, CLEBER P.; LINDSEY, SUSAN C.; KASAMATSU, TERESA S.; MACHADO, ALBERTO L.; MARTINS, JOAO ROBERTO M.; BISCOLLA, ROSA PAULA M.; DIAS DA SILVA, MAGNUS R.; VIEIRA, JOSE GILBERTO H.; MACIEL, RUI M. B.. Development and Application of a Novel Sensitive Immunometric Assay for Calcitonin in a Large Cohort of Patients with Medullary and Differentiated Thyroid Cancer, Thyroid Nodules, and Autoimmune Thyroid Diseases. EUROPEAN THYROID JOURNAL, v. 3, n. 2, p. 8-pg., 2014-01-01. (06/60402-1)

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)

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)

KIZYS, MARINA M. L.; CARDOSO, MIRIAN G.; LINDSEY, SUSAN C.; HARADA, MICHELLE Y.; SOARES, FERNANDO A.; MELO, MARIA CLARA C.; MONTOYA, MARLYN Z.; KASAMATSU, TERESA S.; KUNII, ILDA S.; GIANNOCCO, GISELE; et al. Otimização da extração de ácidos nucleicos de material de punção aspirativa por agulha fina de tiroide obtido de lâminas coradas, tecidos fixados em formalina e emblocados em parafina e amostras de sangue estocadas por longo período. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 56, n. 9, p. 618-626, DEC 2012. (11/20747-8, 06/60402-1, 10/19834-0)

DORSA, KARINA KORES; DOS SANTOS, MICHELLE VENANCIO; DIAS DA SILVA, MAGNUS R.. Ampliando a participação dos genes responsivos a T3 e cAMP na regulação da termogênese gerada pelas vias de oxidação biológica. Arquivos Brasileiros de Endocrinologia e Metabologia, v. 54, n. 4, p. 381-389, JUN 2010. (06/60402-1)