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23 results on '"Toledo, Sergio P.A."'

11. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas

Author

Li Yao, Schiavi, Francesca, Cascon, Alberto, Yuejuan Qin, Inglada-Perez, Lucia, King, Elizabeth E., Toledo. Rodrigo A., Ercolino, Tonino, Rapizzi, Elena, Ricketts, Christopher J., Mori, Luigi, Giacche, Mara, Mendola, Antonella, Taschin, Elisa, Boaretto, Francesca, Loli, Paola, Iacobone, Maurizio, Rossi, Gian-Paolo, Biondi, Bernadette, Lima-Jnnior, Jose Viana, Kater, Claudio E., Bex, Marie, Vikkula, Miikka, Grossman, Ashley B., Gruber, Stephen B., Barontini, Marta, Persu, Alexandre, Castellano, Maurizio, Toledo, Sergio P.A., Maher, Eamonn R., Mannelli, Massimo, Opocher, Giuseppe, Robledo, Mercedes, and Dahia, Patricia L.M.

Subjects
Gene mutations -- Research, Pheochromocytoma -- Genetic aspects, Tumor suppressor genes -- Research
Abstract

A study was conducted to evaluate the prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. Results indicated that mutations of the FP/TMEM127 gene were associated with pheochromocytomas but not paragangliomas.

Published
2010

13. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Author

Frank-Raue, Karin, Rybicki, Lisa A., Erlic, Zoran, Schweizer, Heiko, Winter, Aurelia, Milos, Ioana, Toledo, Sergio P.A., Toledo, Rodrigo A., Tavares, Marcos R., Alevizaki, Maria, Mian, Caterina, Siggelkow, Heide, Hüfner, Michael, Wohllk, Nelson, Opocher, Giuseppe, Dvořáková, Šárka, Bendlova, Bela, Czetwertynska, Małgorzata, Skasko, Elżbieta, Barontini, Marta, Sanso, Gabriela, Vorländer, Christian, Maia, Ana Luiza, Patocs, Attila, Links, Thera P., de Groot, Jan Willem, Kerstens, Michiel N., Valk, Gerlof D., Miehle, Konstanze, Musholt, Thomas J., Biarnes, Josefina, Damjanovic, Svetozar, Muresan, Mihaela, Wüster, Christian, Fassnacht, Martin, Peczkowska, Mariola, Fauth, Christine, Golcher, Henriette, Walter, Martin A., Pichl, Josef, Raue, Friedhelm, Eng, Charis, and Neumann, Hartmut P.H.

Published
2011
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14. Immunohistochemistry of medullary thyroid carcinoma and C-cell hyperplasia by an affinity-purified anti-human calcitonin antiserum

Author

Hayashida, Cesar Y., Alves, Venancio A.F., Kanamura, Cristina T., Ezabella, Marilza C.L., Abelin, Neusa M., Nicolau, Willian, Bisi, Helio, and Toledo, Sergio P.A.

Subjects
Thyroid cancer -- Diagnosis, Diagnostic immunohistochemistry -- Methods, Calcitonin -- Physiological aspects, Affinity chromatography, Health
Abstract

Background. The diagnosis of medullary thyroid carcinoma (MTC) depends on the calcitonin immunohistochemistry. Familial MTC is associated with C-cell hyperplasia (CCH), whereas sporadic MTC is not. A specific and sensitive calcitonin immunohistochemistry is necessary for the diagnosis of MTC and CCH. Methods. An affinity-purified anti-calcitonin antiserum APxCT) was used for immunohistochemistry of the thyroids of 15 patients with MTC. The thyroids of five patients with familial MTC were studied in detail, with each gland sectioned in 48 areas. Results. Between three and ten independent MTC were found in each thyroid, and CCH was found in all five patients (24.2%, varying from 8.4-56.3% of the 48 areas from each thyroid). MTC and CCH were localized mainly in the middle third and in the central axis of the thyroid lobes. They often were found together in the same area (in a total of 21 areas for the five thyroids sectioned in 48 areas) but ten areas with MTC did not have CCH, and 37 areas with CCH did not have MTC. In ten thyroids partially studied, CCH was indicated in three patients thought to have sporadic MTC. In two thyroids, with follicular and papillary carcinoma, a higher density of C-cells was found around the tumors, but disease was not characterized as CCH. Conclusions. APxCT antiserum increased the immunohistochemical specificity and sensitivity. The distinction of the familial from the sporadic MTC requires a careful and extensive search of CCH. C-cells in high density may be found around follicular cell carcinomas, being a potential source of diagnostic error.

Published
1993

15. Abordagem clínica e laboratorial do bócio uninodular sólido: vantagens da determinação da calcitonina sérica por métodos distintos no rastreamento do carcinoma medular de tireóide, forma esporádica

Author

Abelin,Neusa M.A., Gomes,Susimeire, Ivanoff,Maria Tereza, Ezabella,Marilza C.L., Hayashida,Cesar Y., and Toledo,Sergio P.A.

Subjects
Thyroid, Calcitonin, Tireóide, Bócio uninodular atóxico, Medullary thyroid carcinoma, Calcitonina, Carcinoma medular de tireóide, Uninodular goiter
Abstract

A apresentação clínica mais freqüente da forma esporádica do carcinoma medular da tireóide (CMT) é o bócio uninodular sólido (BUS), apresentação esta semelhante aos demais tumores que afetam a glândula. O estabelecimento da freqüência de CMT em BUS apresenta implicações importantes não só diagnosticas, como também terapêuticas, visto a abordagem cirúrgica do CMT diferir de outros tumores tireoideanos. Para investigar a prevalência de CMT em BUS, dosamos calcitonina (CT) sérica, marcador bioquímico do CMT, por métodos distntos (RIA e IRMA) em 60 casos (55 mulheres; com idades entre 22 e 75 anos). A análise citológica obtida através de punção biópsia (PAAF) revelou 100% de especificidade e 67% de sensibilidade na detecção de carcinoma de tireóide. Considerando-se o grau de suspeita clínica para neoplasia tireoideana e os achados anatomopatológicos, houve 60% de correlação positiva. CMT foi diagnosticado através da elevação da CT sérica em um dos 59 casos (1,69%) e confirmado posteriormente pela PAAF e anatomopatológico. A incidência de CMT entre os casos de neoplasias tireoideanas nesta amostra foi de 12,5% (1/8). Concluímos que a dosagem rotineira da CT sérica em casos com BUS não só complementa o estudo desta doença, como auxilia fortemente no diagnóstico do CMT. Tanto o IRMA como o RIA mostraram-se métodos úteis no rastreamento do CMT. Entretanto, o RIA pode provavelmente detectar ainda mais precocemente a elevação de formas não monoméricas da molécula de CT, as quais nos casos de CMT são usualmente mais abundantes que as formas monoméricas. Sporadic medullary thyroid carcinoma (MTC) usually presents as a single nodule (SNT), a presentation common to other thyroid tumors. The establishment of its frequency in SNT has diagnostic and therapeutic implications, since surgery for MTC differs from other tumors. Serum calcitonin (CT), the standard marker for MTC, were measured in 60 cases of SNT (55 females, 22-75 years of age). Fine needle aspiration biopsy (FNAB) of the nodules was also performed, being 100% specific and 67% sensitive for detecting thyroid carcinomas. Sixty percent of clinically suspected malignancies were confirmed post-surgically. MTC was diagnosed by serum CT in 1 of 59 cases (1.69%), confirmed by FNAB and submitted to appropriate surgery. It accounted for 12.5% of thyroid malignancies of this group, since 6 papillary and 1 undifferentiated cases were also diagnosed. Therefore, routine serum CT measurement in SNT is a strong tool in the diagnosis and adequate surgery of MTC. Both IRMA and RIA were useful in this screening. The latter, however, can detect MTC earlier, due to its ability to measure non-monomeric forms of CT, abundant in this condition.

Published
1999

18. Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

Author

Kremer, Hannie, primary, Kraaij, Robert, additional, Toledo, Sergio P.A., additional, Post, Miriam, additional, Fridman, Julia B., additional, Hayashida, Cesar Y., additional, Reen, Margo van, additional, Milgrom, Edwin, additional, Ropers, Hans-Hilger, additional, Mariman, Edwin, additional, Themmen, Axel P.N., additional, and Brunner, Han G., additional

Published
1995
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19. REThaplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family

Author

Quedas, Elisangela P.S., Longuini, Viviane C., Sekiya, Tomoko, Coutinho, Flavia L., Toledo, Sergio P.A., Tannuri, Uenis, and Toledo, Rodrigo A.

Abstract

Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET)proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mutations in REThave been reported in up to 50% of the inherited forms of Hirschsprung disease and in 15–20% of sporadic cases of Hirschsprung disease. The prevalence of Hirschsprung disease in multiple endocrine neoplasia type 2 cases was recently determined to be 7.5% and the co-occurrence of Hirschsprung disease and multiple endocrine neoplasia type 2 has been reported in at least 22 families so far. It was initially thought that Hirschsprung disease could be due to disturbances in apoptosis or due to a tendency of the mutated RETreceptor to be retained in the Golgi apparatus. Presently, there is strong evidence favoring the hypothesis that specific inactivating haplotypes play a key role in the fetal development of congenital megacolon/Hirschsprung disease. In the present study, we report the genetic findings in a novel family with multiple endocrine neoplasia type 2: a specific REThaplotype was documented in patients with Hirschsprung disease associated with medullary thyroid carcinoma, but it was absent in patients with only medullary thyroid carcinoma. Despite the limited number of cases, the present data favor the hypothesis that specific haplotypes not linked to RETgermline mutations are the genetic causes of Hirschsprung disease.

Published
2012
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