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1.
J Endocrinol Invest ; 46(2): 213-234, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36038743

RESUMO

PURPOSE: Neuroendocrine neoplasms can occur as part of inherited disorders, usually in the form of well-differentiated, slow-growing tumors (NET). The main predisposing syndromes include: multiple endocrine neoplasias type 1 (MEN1), associated with a large spectrum of gastroenteropancreatic and thoracic NETs, and type 4 (MEN4), associated with a wide tumour spectrum similar to that of MEN1; von Hippel-Lindau syndrome (VHL), tuberous sclerosis (TSC), and neurofibromatosis 1 (NF-1), associated with pancreatic NETs. In the present review, we propose a reappraisal of the genetic basis and clinical features of gastroenteropancreatic and thoracic NETs in the setting of inherited syndromes with a special focus on molecularly targeted therapies for these lesions. METHODS: Literature search was systematically performed through online databases, including MEDLINE (via PubMed), and Scopus using multiple keywords' combinations up to June 2022. RESULTS: Somatostatin analogues (SSAs) remain the mainstay of systemic treatment for NETs, and radiolabelled SSAs can be used for peptide-receptor radionuclide therapy for somatostatin receptor (SSTR)-positive NETs. Apart of these SSTR-targeted therapies, other targeted agents have been approved for NETs: the mTOR inhibitor everolimus for lung, gastroenteropatic and unknown origin NET, and sunitinib, an antiangiogenic tyrosine kinase inhibitor, for pancreatic NET. Novel targeted therapies with other antiangiogenic agents and immunotherapies have been also under evaluation. CONCLUSIONS: Major advances in the understanding of genetic and epigenetic mechanisms of NET development in the context of inherited endocrine disorders have led to the recognition of molecular targetable alterations, providing a rationale for the implementation of treatments and development of novel targeted therapies.


Assuntos
Antineoplásicos , Neoplasia Endócrina Múltipla Tipo 1 , Tumores Neuroendócrinos , Neoplasias Pancreáticas , Doença de von Hippel-Lindau , Humanos , Síndrome , Tumores Neuroendócrinos/tratamento farmacológico , Tumores Neuroendócrinos/genética , Antineoplásicos/uso terapêutico , Doença de von Hippel-Lindau/genética , Doença de von Hippel-Lindau/terapia , Everolimo , Neoplasia Endócrina Múltipla Tipo 1/complicações , Somatostatina/uso terapêutico , Neoplasias Pancreáticas/tratamento farmacológico , Neoplasias Pancreáticas/genética
2.
J Endocrinol Invest ; 43(10): 1429-1445, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32415572

RESUMO

BACKGROUND: Endocrine neoplasms are generally slow-growing tumors that can show hormonal activity and give metastases. In most cases they are benign and clearly malignant forms are easy to diagnose. However, borderline forms may occur and be, for the pathologists, very difficult to classify. In these cases, there is a strong need to identify factors that may aid. Official classification systems for endocrine neoplasms are based on the evaluation of proliferation and, in most cases, they rely on mitotic count. In support, the study of Ki67 is carried out which, however, has not yet been included in any official classification system, except for neuroendocrine neoplasms of the gastro-entero-pancreatic tract. PURPOSE: The aim of the present study was to investigate the proven or unproven role of Ki67 in endocrine neoplasms, in different districts, in order to bring to light the substantial differences, in terms of proliferation, existing between neoplasms so similar, but at the same time, so different. METHODS: A thorough search of English language literature was performed, looking for articles concerning Ki67 in five endocrine neoplasms (pituitary adenomas, thyroid neoplasms, adrenocortical neoplasms, pheochromocytomas and paragangliomas). RESULTS: From 2170, 236 articles were selected and it was seen that the endocrine neoplasm in which Ki67 was most studied was the pituitary, where it still shows a controversial role. In other neoplasms different roles were identified. CONCLUSION: The pathologist should be aware of the contribution that this proliferative marker can give to the diagnosis and, sometimes, to the therapy selection, for the clinician.


Assuntos
Neoplasias das Glândulas Endócrinas/patologia , Antígeno Ki-67/fisiologia , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/sangue , Contagem de Células/métodos , Proliferação de Células/fisiologia , Neoplasias das Glândulas Endócrinas/diagnóstico , Neoplasias das Glândulas Endócrinas/metabolismo , Neoplasias das Glândulas Endócrinas/terapia , Humanos , Antígeno Ki-67/metabolismo , Monitorização Fisiológica , Prognóstico , Resultado do Tratamento
3.
Acta Endocrinol (Buchar) ; 15(4): 518-521, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-32377251

RESUMO

Intrasellar plasmacytoma is a rare pituitary tumor, which originates from monoclonal plasma cells in a single lesion. Knowledge of its features comes from case reports only. Here, we present an interesting case of a 77-year-old woman with a presumptive diagnosis of non-functioning pituitary adenoma, as based on both clinical and radiological examinations. Following endoscopic endonasal transsphenoidal surgery, the definitive diagnosis of intrasellar plasmacytoma was made by immunohistochemical analysis of the sellar mass. Intrasellar plasmacytoma is rare, but it should be evaluated in the differential diagnosis of a pituitary mass due to its different therapeutic approach and prognosis, since it can frequently progress to multiple myeloma.

5.
J Biol Regul Homeost Agents ; 31(3): 763-768, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28958136

RESUMO

Sino-nasal solitary extramedullary plasmacytoma (EMP) is a rare neoplasm with unpredictable progression to multiple myeloma. To improve the precision of irradiation delivery, preserving the healthy surrounding tissue and critical structures we used a CyberKnife® for the treatment of sinonasal solitary extramedullary plasmacytoma. We present the first case of sinonasal-EMP treated with CyberKnife®-stereotactic radiotherapy (SRT) with a complete remission without adverse events. Based on the post-therapeutic results and healthy tissue preservation, we believe that CyberKnife®-SRT represents a good therapeutic option for the treatment of sinonasal-EMP.


Assuntos
Neoplasias dos Seios Paranasais , Seios Paranasais/diagnóstico por imagem , Plasmocitoma , Radiocirurgia , Idoso , Humanos , Masculino , Neoplasias dos Seios Paranasais/diagnóstico por imagem , Neoplasias dos Seios Paranasais/radioterapia , Plasmocitoma/diagnóstico por imagem , Plasmocitoma/radioterapia
6.
Pathologica ; 110(2): 83-91, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30546143

RESUMO

A national project for the quality assessment of breast immunohistochemistry, involving 155 pathology laboratories distributed all over the Italian territory ( 19 regions), was carried out. The Project lasted one year from December 2014 to December 2015 and it was strongly supported by the Italian Society of Anatomic Pathology (SIAPEC/IAP). Proficiency tests were carried out by the Nordic Immunohistochemical Quality Control (NordiQC) organization. The main aim of the project was to investigate on the general performance of immunohistochemistry (ER, PR and HER2) in the field of breast cancer in the Italian territory, in order to emphasize any difference and give practical support to laboratories in daily practice.The present review article focused on the description of this extraordinary pioneer Italian experience. Besides NordiQC results, further analysis concerning epidemiology and geographical distribution were done.Aim of the study was to analyze the general results and to discuss on the benefits that a national quality control program may have if it became a mandatory service provided by the National Health Care System.In general, the Italian data were in accordance with the general results obtained from the "official" NordiQC HER2, PR and ER assessments. A HER2 scoring consensus between labs and assessor group was achieved in 80% of cases.Interestingly, what emerges from our study is that no substantial differences exist among the three Italian macro-areas (North, Center and South) in the quality of Immunohistochemistry performed for breast cancer. No statistically significant difference was even found between laboratories that perform more or less than 100 tests/year.


Assuntos
Biomarcadores Tumorais/análise , Neoplasias da Mama/química , Imuno-Histoquímica/normas , Ensaio de Proficiência Laboratorial/normas , Garantia da Qualidade dos Cuidados de Saúde/normas , Receptor ErbB-2/análise , Receptores de Estrogênio/análise , Receptores de Progesterona/análise , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/patologia , Feminino , Humanos , Itália/epidemiologia , Variações Dependentes do Observador , Valor Preditivo dos Testes , Prognóstico , Desenvolvimento de Programas , Avaliação de Programas e Projetos de Saúde , Reprodutibilidade dos Testes
7.
Neuroradiol J ; 26(2): 227-32, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23859247

RESUMO

Spinal chordomas are more often located on the midline and are associated with marked destruction of the vertebral bodies. We report a rare case of large cervical (C2-C3) right lateral paravertebral chordoma extending into the spinal canal through a very enlarged intervertebral foramen. The tumor was initially diagnosed as a mucous adenocarcinoma on a percutaneous needle biopsy. However, the neuroradiological features, including the well-defined tumor margins, the regular and sclerosing lytic bone changes with regular enlargement of the intervertebral C2-C3 foramen, were in favor of a more slowly growing lesion, such as schwannoma or neurofibroma. At surgery a well-demarcated capsulated tumor involving the nerve root was partially resected. Histology was in favor of a low-grade chordoma (Ki-67/MIB-1<1%). Postoperative proton beam therapy was also performed. The differential neuroradiological diagnosis is discussed.


Assuntos
Adenocarcinoma/patologia , Vértebras Cervicais , Cordoma/patologia , Neoplasias da Coluna Vertebral/patologia , Idoso , Vértebras Cervicais/diagnóstico por imagem , Vértebras Cervicais/patologia , Tomografia Computadorizada de Feixe Cônico , Feminino , Humanos , Queratinas/metabolismo , Imageamento por Ressonância Magnética
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