28 research outputs found
Primary cerebral neoplasms associated with vascular malformations: anatomo-pathologic study of two cases
The association of intracerebral vascular malformations and primary cerebral neoplasm is rare. The most commonly found vascular malformation with neoplasm is intracranial arterial aneurysm. We describe two cases of vascular malformations associated with primary cerebral neoplasms, with histologic and immunohistochemical studies.A associação de malformações vasculares intracerebrais com neoplasias cerebrais primárias é rara. Mais comumente encontrados são os aneurismas arteriais intracranianos com neoplasias primárias. Relatamos dois casos de malformações vasculares associadas a neoplasias cerebrais primárias, com estudo histopatológico e imuno-histoquímico.Escola Paulista de Medicina Departamento de Anatomia PatológicaUNIFESP, EPM, Depto. de Anatomia PatológicaSciEL
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Ossifying Parotid Carcinoma ex Pleomorphic Adenoma
We present a unique case of an extensively ossified carcinoma ex pleomorphic adenoma (CXPA) in a 76-year-old man with a five-year history of a slowly growing parotid mass. Fine-needle aspiration of the mass was nondiagnostic. A computed tomography (CT) scan of the lesion revealed a well-circumscribed mass with peripheral calcification. Initial pathological analysis suggested a benign parotid mass, but rigorous decalcification revealed noninvasive CXPA. The patient underwent complete resection of the mass and remained disease-free nine months later. Extensive ossification of a seemingly benign parotid mass may mask areas of carcinoma that may progress if left untreated
A HIF1α Regulatory Loop Links Hypoxia and Mitochondrial Signals in Pheochromocytomas
Pheochromocytomas are neural crest–derived tumors that arise from inherited or sporadic mutations in at least six independent genes. The proteins encoded by these multiple genes regulate distinct functions. We show here a functional link between tumors with VHL mutations and those with disruption of the genes encoding for succinate dehydrogenase (SDH) subunits B (SDHB) and D (SDHD). A transcription profile of reduced oxidoreductase is detected in all three of these tumor types, together with an angiogenesis/hypoxia profile typical of VHL dysfunction. The oxidoreductase defect, not previously detected in VHL-null tumors, is explained by suppression of the SDHB protein, a component of mitochondrial complex II. The decrease in SDHB is also noted in tumors with SDHD mutations. Gain-of-function and loss-of-function analyses show that the link between hypoxia signals (via VHL) and mitochondrial signals (via SDH) is mediated by HIF1α. These findings explain the shared features of pheochromocytomas with VHL and SDH mutations and suggest an additional mechanism for increased HIF1α activity in tumors
Nomenclature revision for encapsulated follicular variant of papillary thyroid carcinoma:a paradigm shift to reduce overtreatment of indolent tumors
Although growing evidence points to highly indolent behavior of encapsulated follicular variant of papillary thyroid carcinoma (EFVPTC), most patients with EFVPTC are treated as having conventional thyroid cancer
Protein expression of VEGF, IGF-1 and FGF in retroocular connective tissues and clinical correlation in Graves' ophthalmopathy Expressão protéica de VEGF, IGF-1 e FGF no tecido conjuntivo retro-ocular e correlação clínica na oftalmopatia de Graves
PURPOSE: To investigate the immunohistochemical expression (IGF-1, EGFr, EGF, c-erbB-2/HER-2/neu, PDGF-A, PDGF-B, FGF and VEGF) in patients with Graves' ophthalmopathy. METHODS: Twenty-four samples (Graves' ophthalmopathy patients) underwent lateral rectus muscle and surrounding fibrous and adipose tissue biopsy. The control group was obtained by strabismus surgery. Correlation between clinical- ophthalmologic, endocrinological, ultrasonographic findings, and immunohistochemical expression was performed. RESULTS: IGF-1: There were 7 positive cases (29.2%). There was a direct relation with higher CAS (clinical activity score) in all of them and if only CAS equal or higher than 5 was considered, this was 54.5%. FGF: There was expression in 5 cases (20.8%) with a direct relation in all those with higher CAS (>5) (45.4%). VEGF: There were two positive cases (8.3%) for VEGF in endothelial cells, in these cases the patients also presented CAS higher than 5. There was no expressions of all growth factors in the control group. CONCLUSIONS: All patients, except one, with positive expression of FGF, IGF-1 and VEGF showed CAS greater than 5, suggesting in this way an important role of these growth factors in the pathogenesis and severity of Graves' ophthalmopathy. However, statistical analysis revealed only significant association between IGF-1 and male sex (P=0.034). Low ultrasound reflectivity and endocrine status may not correlate directly with disease activity or with immunoexpression of growth factors and c-erbB-2/HER-2/neu.<br>OBJETIVO: Investigar a expressão imuno-histoquímica de IGF-1, EGFr, EGF, c-erbB-2/HER-2/neu, PDGF-A, PDGF-B, FGF e VEGF na oftalmopatia de Graves. MÉTODOS: Vinte e dois pacientes (oftalmopatia de Graves) foram submetidos à biópsia do músculo reto lateral e tecido fibroso e adiposo adjacente. O grupo controle foi de pacientes de cirurgia de estrabismo. Foi feita correlação entre achados clínico-oftalmológicos, endocrinológicos, ultra-sonográficos e da expressão imuno-histoquímica dos fatores de crescimento. RESULTADOS: IGF-1: Houve 7 casos positivos (29,2%). Houve correlação direta com o CAS (clinical activity score) elevado em todos os casos e em que consideramos CAS apenas acima de 5, em 54,5%. FGF: Houve expressão em 5 casos (20,8%) com relação direta com CAS elevado em todos os casos e em que consideramos CAS maior que 5 (45,4%). VEGF: Houve dois casos positivos (8,3%) para VEGF nas células endoteliais e estes casos também apresentavam CAS maior que 5. A imunorreatividade foi negativa em todo grupo controle. CONCLUSÃO: Todos os pacientes, com exceção de um, com expressão positiva para FGF, IGF-1 e VEGF mostraram CAS maior que 5, sugerindo importante papel destes fatores de crescimento na patogênese e gravidade da oftalmopatia de Graves. Entretanto, a análise estatística demonstrou associação significativa entre IGF-1 e o sexo masculino (P=0,034). Baixa refletividade ao ultra-som e condição endócrina não estiveram correlacionadas
Overview of the 2022 WHO Classification of Familial Endocrine Tumor Syndromes.
This review of the familial tumor syndromes involving the endocrine organs is focused on discussing the main updates on the upcoming fifth edition of the WHO Classification of Endocrine and Neuroendocrine Tumors. This review emphasizes updates on histopathological and molecular genetics aspects of the most important syndromes involving the endocrine organs. We describe the newly defined Familial Cancer Syndromes as MAFA-related, MEN4, and MEN5 as well as the newly reported pathological findings in DICER1 syndrome. We also describe the updates done at the new WHO on the syndromic and non-syndromic familial thyroid diseases. We emphasize the problem of diagnostic criteria, mention the new genes that are possibly involved in this group, and at the same time, touching upon the role of some immunohistochemical studies that could support the diagnosis of some of these conditions. As pathologists play an important role in identifying tumors within a familial cancer syndrome, we highlight the most important clues for raising the suspicious of a syndrome. Finally, we highlight the challenges in defining these entities as well as determining their clinical outcome in comparison with sporadic tumors. Instead of the usual subject review, we present the highlights of the updates on familial cancer syndromes by answering select questions relevant to practicing pathologists