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Rev. Assoc. Méd. Rio Gd. do Sul ; 65(4): 01022105, OUT-DEZ 2021.
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1392995


Ovários ectópicos estão entre as mais raras anomalias ginecológicas, compreendendo ovários supranumerários e acessórios. Relatamos o caso de um ovário acessório no istmo tubário encontrado incidentalmente no exame anatomopatológico de uma paciente de 70 anos que foi submetida a anexectomia bilateral por lesão cística volumosa em ovário direito e lesões calcificadas em ovário esquerdo. Aspectos clínicos, diagnósticos e epidemiológicos são discutidos neste estudo.

Ectopic ovaries are among the rarest gynecological abnormalities, comprising supernumerary and accessory ovaries. We report the case of an accessory ovary in the tubal isthmus found incidentally in the anatomopathological examination of a 70-year-old female patient who underwent bilateral adnexectomy for a large cystic lesion in the right ovary and calcified lesions in the left ovary. Clinical, diagnostic and epidemiological aspects are discussed in this study.

Arq. bras. neurocir ; 40(2): 195-199, 15/06/2021.
Article in English | LILACS | ID: biblio-1362266


Neuroparacoccidiodimycosis (NPDM) is an uncommon granulomatous disease, which more frequently affects immunocompromised male patients over 30 years of age in the course of chronic lung disease. Paracoccidioides brasiliensis (PB) is an endemic fungus in Brazil, and grows as thick-walled yeast (with round to oval bodies) measuring 10 µm to 60 µm in diameter. Neuroparacoccidiodimycosi may develop many years after transmission and/or primary lung involvement. The authors describe a case of NPDM affecting a male patient, 52 years of age, farmer, heavy smoker, with clinical complaint of headache, asthenia, seizures, and prostration in the previous nine months. Upon physical examination, the patient presented regular general condition, without other relevant physical alterations. Computed tomography (CT) showed multiple bilateral pulmonary nodules associated to enlargement of the mediastinal lymph node. Magnetic resonance imaging (MRI) and CTscans of the central nervous system showed six heterogeneous nodular lesions compromising the frontal and parietal lobes, the largest one measuring 3.8 3.2 3.2 cm. The hypothesis of a neoplastic process compromising the lung and brain was considered. A biopsy of the mediastinal lymph node showed epithelioid granulomas, which exhibited round, thin-walled fungal structures in Grocott silver stain. The stereotactic biopsy of the frontal lesion was constituted by necrotic tissue admixed with some round to oval, thin-walled fungi measuring 10 µm to 60 µm, compatible with PB (identified on Grocott silver stain/confirmed in culture). The diagnosis of NPDM was then established. The employed therapeutic regimen was intravenous amphotericin B, itraconazole, and sulfamethoxazole-trimetropin. After ninety days of clinical follow-up, no episodes of seizures/neurological deficits were identified, and a marked decrease in the number and size of the lung and brain lesions were found.

Humans , Male , Middle Aged , Paracoccidioidomycosis/therapy , Immunocompromised Host , Central Nervous System Fungal Infections/surgery , Antifungal Agents/therapeutic use , Paracoccidioides , Paracoccidioidomycosis/diagnostic imaging , Central Nervous System Fungal Infections/diagnostic imaging
Arq. bras. neurocir ; 39(3): 222-227, 15/09/2020.
Article in English | LILACS | ID: biblio-1362426


Introduction Angiosarcoma (AG) is a malignant mesenchymal neoplasm that predominantly affects the soft tissues and, to variable degrees, expresses themorphological and functional characteristics of the endothelium. The incidence of sarcomas of the central nervous system(CNS) is low (0.5% to 2.7%), and AGs involving the brain are even rarer. Case Description A 45-year-old male patient presented with complaints of headache, nausea, and vomiting. An examination showed bilateral papilledema and a right lung pleurotomy. The patient's previous history included drug addiction, pulmonary tuberculosis, lung abscess, pleural empyema, and pulmonary artery embolization for severe hemoptysis. Computed tomography/magnetic resonance imaging scans revealed a large intra-axial lesion extending into the right parietal and temporal lobes, with hemorrhagic zones. The patient underwent surgical resection of the lesion. Microscopy showed a poorly-differentiated, high-grade malignant tumor composed of plump/epithelioid cells forming small vascular spaces and solid nests, compatible with AG.In the postoperative period, the patient developed recurrent hemoptysis. A biopsy of the tissues adjacent to the pleurotomy determined the diagnosis of pulmonary AG. At 30 days after the resection, the patient died from hemoptysis, hemothorax, lung atelectasis, and intracranial hypertension related to the recurrence of the brain tumor. Conclusion Angiosarcoma is a rare neoplasia related to short survival due to the high proliferative index, which must be considered in patients presenting hemorrhagic tumors. No specific genetic abnormalities have been described for this neoplasia.

Humans , Male , Middle Aged , Tuberculosis, Pulmonary/etiology , Anemia , Hemangiosarcoma/surgery , Hemangiosarcoma/complications , Prognosis , Soft Tissue Neoplasms/diagnosis , Central Nervous System Neoplasms/diagnosis , Hemangiosarcoma/physiopathology , Hemangiosarcoma/diagnostic imaging , Neoplasm Metastasis
Arq. bras. neurocir ; 39(2): 149-153, 15/06/2020.
Article in English | LILACS | ID: biblio-1362530


Introduction Meningiomas are the most common primary intracranial tumors, accounting for up to 35% of the neoplasms in this category. Approximately 10­20% of these neoplasms are histologically atypical, and the lymphoplasmacyte-rich meningioma (LPM) corresponds to a very rare subtype of meningioma that is characterized histopathologically by massive infiltrates of inflammatory cells. The case described in the present study is the sixth case of an intraventricular LPM found in the literature and the first case considering the location in the third ventricle. Case Description A 21-year-old male without previous comorbidities sought medical attention due to visual impairment (complaining of intermittent visual blur) for 2 months. A magnetic resonance imaging of the brain confirmed the presence of a well-delimited solid mass in the third ventricle of 3.0 2.3 cmwith a cystic component that extended itself inferiorly and distorted the visual pathway anatomy. Neurosurgeons decided to access the lesion using an interhemispheric transcallosal approach with a transforaminal access, and the lesion was resected completely. The patient has an ambulatorial endocrinological follow-up and is neurologically stable 6 months after the procedure. No new visual deficits were noted. Conclusion Lymphoplasmacyte-rich meningioma is a very rare intracranial tumor, and the involvement of the third ventricle make this case unique.

Humans , Male , Adult , Third Ventricle/surgery , Third Ventricle/pathology , Meningeal Neoplasms/surgery , Meningioma/surgery , Meningeal Neoplasms/pathology , Meningeal Neoplasms/diagnostic imaging , Meningioma/pathology , Meningioma/diagnostic imaging
Arq. bras. neurocir ; 39(2): 132-135, 15/06/2020.
Article in English | LILACS | ID: biblio-1362496


Dysplastic gangliocytoma of the cerebellum (DGC) or Lhermitte-Duclos Disease is a rare lesion (World Health Organization [WHO] grade I) characterized by thickened folia and replacement of the internal granular layer by abnormal ganglion cells. More commonly, the compromised patients are young adults presenting ataxia, seizures, obstructive hydrocephalus, and increased intracranial pressure. Dysplastic gangliocytoma of the cerebellum is intimately associated with Cowden syndrome, a hereditary disorder caused by a germline mutation in the PTEN tumor suppressor gene on chromosome 10q23. Large neurons of DCG show vesicular nuclei with prominent nucleoli. Expansion of the internal granular layer determines vacuolization of the molecular layer and white matter, which can be related to the bright stripes identified on T2-weighted magnetic resonance imaging. Herein, the authors report a female patient who developed long- time recurrence of DGC and discuss pathological findings and differential diagnosis of this rare cerebellar lesion.

Humans , Female , Adult , Hamartoma Syndrome, Multiple/diagnosis , Cerebellar Neoplasms/diagnosis , Ganglioneuroma/surgery , Ganglioneuroma/diagnosis , Recurrence , Hamartoma Syndrome, Multiple/complications , Hamartoma Syndrome, Multiple/therapy , Ganglioneuroma/physiopathology
Arq. bras. neurocir ; 38(3): 210-214, 15/09/2019.
Article in English | LILACS | ID: biblio-1362594


Epidermoid cysts (ECs) of the central nervous system (CNS) constitute benign circumscribed lesions that aremore common in lateral than in midline sites. Epidermoid cysts of the CNS arise more frequently in the cerebellopontine angle, around the pons, near the sella, within the temporal lobe, in the diploe, and in the spinal canal. Most common tumoral lesion of sellar region is pituitary adenoma, and sellar cystic epithelial masses may be difficult to differentiate based only on clinical and imaging findings. Epidermoid cysts are covered by keratinized squamous epithelium and are usually filled with keratin lamellae. The process is, for the most part, maldevelopmental in origin, presumably arising from trapped surface ectodermal elements in association with the developing CNS during the closure of the neural groove or formation of the secondary cerebral vesicles. In the present study, the authors describe a case of sellar epidermoid cyst producing endocrine alterations and visual disturbance in a 35 years woman, and review the physiopathological and diagnostic criteria of this lesion.

Humans , Female , Adult , Sella Turcica/abnormalities , Epidermal Cyst/surgery , Epidermal Cyst/physiopathology , Epidermal Cyst/diagnostic imaging , Central Nervous System Cysts
J. bras. nefrol ; 41(3): 393-399, July-Sept. 2019. graf
Article in English | LILACS | ID: biblio-1040251


Abstract Lipoprotein glomerulopathy (LPG) is an uncommon cause of nephrotic syndrome and/or kidney failure. At microscopy, LPG is characterized by the presence of lipoprotein thrombi in dilated glomerular capillaries due to different ApoE mutations. ApoE gene is located on chromosome 19q13.2, and can be identified in almost all serum lipoproteins. ApoE works as a protective factor in atherosclerosis due its interaction with receptor-mediated lipoprotein clearance and cholesterol receptor. Most common polymorphisms include ApoE2/2, ApoE3/2, ApoE3/3, ApoE4/2, ApoE4/3, and ApoE4/4. All age-groups can be affected by LPG, with a discrete male predominance. Compromised patients typically reveal dyslipidemia, type III hyperlipoproteinemia, and proteinuria. LPG treatment includes fenofibrate, antilipidemic drugs, steroids, LDL aphaeresis, plasma exchange, antiplatelet drugs, anticoagulants, urokinase, and renal transplantation. Recurrence in kidney graft suggests a pathogenic component(s) of extraglomerular humoral complex resulting from abnormal lipoprotein metabolism and presumably associated to ApoE.

Resumo A glomerulopatia por lipoproteínas (GLP) é uma patologia rara que causa síndrome nefrótica e/ou insuficiência renal. Na microscopia, a GLP é caracterizada pela presença de trombos de lipoproteínas em capilares glomerulares dilatados devido a diferentes mutações no gene da ApoE. O gene da ApoE está localizado no cromossomo 19q13.2 e pode ser identificado em quase todas as lipoproteínas séricas. A ApoE age como fator de proteção na arterioesclerose por conta de sua interação com a depuração de lipoproteínas mediada por receptores e com o receptor de colesterol. Dentre os polimorfismos mais comuns destacam-se ApoE2/2, ApoE3/2, ApoE3/3, ApoE4/2, ApoE4/3 e ApoE4/4. A GLP pode acometer indivíduos de todas as faixas etárias, com discreta predominância do sexo masculino. Pacientes afetados tipicamente apresentam dislipidemia, hiperlipoproteinemia tipo III e proteinúria. O tratamento da GLP é conduzido com fenofibrato, antilipêmicos, corticosteroides, LDL-aferese, troca de plasma, antiplaquetários, anticoagulantes, uroquinase e transplante renal. Recidiva no enxerto renal indica a existência de componentes patogênicos do complexo humoral extraglomerular resultante de metabolismo lipoproteico anômalo, possivelmente associado a ApoE.

Humans , Male , Female , Child, Preschool , Adult , Middle Aged , Kidney Diseases/pathology , Kidney Diseases/therapy , Apolipoproteins E/genetics , Sex Factors , Kidney Transplantation , Treatment Outcome , Kidney Diseases/complications , Kidney Diseases/genetics , Kidney Failure, Chronic/surgery , Kidney Failure, Chronic/etiology , Mutation , Hypolipidemic Agents/therapeutic use
J. Bras. Patol. Med. Lab. (Online) ; 53(5): 338-344, Sept.-Oct. 2017. graf
Article in English | LILACS-Express | LILACS | ID: biblio-893576


ABSTRACT Diffuse astrocytoma and glioblastoma (GBM) constitute a group of diffusely infiltrating astrocytic neoplasms, which more commonly arise in cerebral hemispheres of adults. The prevalence of malignant transformation of diffuse astrocytoma to anaplastic astrocytoma and GBM varies from 40% to 75% of cases in different series. Distinct genetic abnormalities are related to neoplastic progression, and the cells prone to glial neoplasm development include progenitor cells, stem cells, or differentiated cells. Primary GBM arises typically de novo, with no previous history of a lower-grade precursor lesion. Secondary GBM evolves from low-grade astrocytoma, is predominant in younger patients, and frequently exhibits isocitrate dehydrogenase (IDH) 1 and 2 mutations. IDH1/2 mutated gliomas have been associated with a better prognosis when compared to IDH-wildtype gliomas. IDH mutations are rare in primary GBM and gliomas arising in children. Evidence suggests that IDH mutations lead to a hypermethylation phenotype and represent early events in tumoral transformation of the central nervous system (CNS) due to the production of the oncometabolite 2-hydroxyglutarate. IDH1 mutations precede tumor protein p53 (TP53) mutations in around 63% of cases of diffuse astrocytomas, and result in loss in 10q and 19q chromosomes. Primary GBMs are also associated with alterations in cell proliferation [epidermal growth fator receptor (EGFR) amplification/mutation, platelet derived growth factor receptor alpha (PDGFRA) amplifications, neurofibromin 1 (NF1) mutations], abnormal apoptotic index [cyclin dependent kinase inhibitor 2A (CDKN2A) homozygous deletion and TP53 mutation], and aberrant progression in G1/S phase of the cell cycle.

RESUMO Astrocitoma difuso e glioblastoma (GBM) constituem um grupo de neoplasias astrocíticas infiltrantes difusas, que mais comumente surgem nos hemisférios cerebrais de adultos. A prevalência da transformação maligna de astrocitoma difuso para astrocitoma anaplásico e GBM varia de 40% a 75% dos casos em diferentes séries. Distintas anormalidades genéticas estão relacionadas com a progressão neoplásica; e as células propensas ao desenvolvimento de neoplasia glial incluem células progenitoras, células-tronco ou células diferenciadas. O GBM primário surge tipicamente de novo, sem história prévia de uma lesão precursora de baixo grau; o GBM secundário evolui a partir de um astrocitoma de baixo grau, é predominante em pacientes mais jovens e com frequência exibe mutações de isocitrato desidrogenase (IDH) 1 e 2. Os gliomas com mutação de IDH1/2 têm sido associados a melhor prognóstico quando comparados a gliomas com IDH de tipo selvagem. As mutações de IDH são raras nos GBM primários e em gliomas que surgem em crianças. Evidências sugerem que as mutações de IDH conduzem a um fenótipo de hipermetilação e representam eventos iniciais na transformação tumoral do sistema nervoso central (SNC) devido à produção do oncometabólito 2-hidroxiglutarato. As mutações de IDH1 precedem mutações de tumor protein p53 (TP53) em cerca de 63% dos casos de astrocitomas difusos e resultam em perda nos cromossomos 10q e 19q. O GBM primário também está associado a alterações na proliferação celular [amplificação/mutação de epidermal growth fator receptor (EGFR), amplificações de platelet derived growth factor receptor alpha (PDGFRA) e mutações de neurofibromin 1 (NF1)], índice apoptótico anormal [deleção homozigótica cyclin dependent kinase inhibitor 2A (CDKN2A) e mutação TP53] e progressão aberrante na fase G1/S do ciclo celular.

Arq. bras. neurocir ; 35(4): 329-333, 30/11/2016.
Article in English | LILACS | ID: biblio-911048


Cystic lesions inside the brain parenchyma are a common pathological finding in the investigation of patients with suspicion of cerebral tumor. Histological diagnosis is important to guide the patient's treatment and follow-up, and to determine prognosis. Among patients diagnosed with cerebral cysts, most are located in the parenchyma above the tentorium. The authors describe the case of a patient who had been suffering from dizziness and balance disturbance for 4 months; the investigation identified a cyst inside the cerebellar right hemisphere. A surgical procedure was performed, and the biopsy microscopic analysis diagnosis was glial cyst.

Patologias intraparenquimatosas de características císticas são comumente identificadas em pacientes que estão sob investigação de neoplasias cranianas. Lesões císticas são mais prevalentes acima da tenda cerebelar, e o diagnóstico histológico é fundamental para determinar o tratamento, seguimento e prognóstico do paciente. Os autores relatam o caso de um paciente com sintomas de vertigem e alteração no equilíbrio dinämico de 4 meses de evolução, cuja investigação diagnosticou cisto intraparenquimatoso no hemisfério cerebelar direito. Procedeu-se com intervenção cirúrgica cujo diagnóstico histopatológico foi compatível com Cisto Glial

Humans , Male , Middle Aged , Glioma , Glioma/surgery , Cerebellum , Neoplasms, Cystic, Mucinous, and Serous
Rev. AMRIGS ; 60(3): 249-252, jul.-set. 2016. ilus
Article in Portuguese | LILACS | ID: biblio-832499


O tumor sólido pseudopapilar de pâncreas (TSPP) é uma neoplasia maligna de baixo grau, que acomete predominantemente mulheres jovens e corresponde a um processo tumoral ovoide pardo-avermelhado e de crescimento lento. Os autores relatam um caso incidental de TSPP, e discutem os achados anatomopatológicos e clínicos desta rara neoplasia. Paciente feminino, 45 anos, obesa mórbida, sem outras queixas clínicas, em avaliação para procedimento de cirurgia bariátrica, apresentou, nos exames de ultrassonografia e tomografia computadorizada do abdome, lesão tumoral sólido-cística na cauda do pâncreas, que mediu 7,1 cm no maior eixo. A paciente foi submetida à ressecção do processo. Aos cortes, foi identificada uma lesão tumoral ovoide, pardo-avermelhada, predominantemente sólida, circunscrita, que mediu 7,4 x 6,0 x 5,3 cm. Ao exame microscópico, identificou-se uma neoplasia de cé- lulas epitelioides monomórficas de tamanho intermediário, com citoplasma exibindo pequenos glóbulos hialinos, dispostas em áreas sólidas e císticas. O processo exibiu imunoexpressão positiva para pancitoqueratina, betacatenina, sinaptofisina, cromogranina A, CD56 e receptores de progesterona, e imunoexpressão negativa para E-caderina, CDX-2 e TTF-1. O diagnóstico de Tumor Sólido Pseudopapilar do Pâncreas foi então estabelecido. Após um seguimento de quatro meses, não foram encontradas evidências clínicas ou radiológicas de recidiva tumoral(AU)

The solid pseudopapillary tumor of the pancreas (SPTP) is a malignant neoplasm of low degree, which predominantly affects young women and corresponds to an ovoid reddish-brown tumor process of slow growth. The authors report an incidental case of SPTP and discuss the clinical and pathological findings of this rare neoplasm. A female patient, 45 years old, morbidly obese, with no other clinical complaints, in evaluation for bariatric surgery procedure, presented, in ultrasound examination and computed tomography of the abdomen, a solid-cystic tumor lesion in the pancreas tail, which measured 7.1 cm in the major axis. The patient underwent resection process. The cuts showed an ovoid reddish-brown tumor lesion predominantly solid, circumscribed, which measured 7.4 x 6.0 x 5.3 cm. Microscopic examination identified a tumor of monomorphic epithelioid cells of intermediate size, with cytoplasm exhibiting small hyaline globules arranged in solid and cystic areas. The process showed positive immunoreactivity for pancytokeratin, beta-catenin, synaptophysin, chromogranin A, CD56 and progesterone receptors, and negative immunoreactivity for E-cadherin, CDX-2 and TTF-1. The diagnosis of solid pseudopapillary tumor of the pancreas was then established. At a four-month follow-up, there was no clinical or radiological evidence of tumor recurrence(AU)

Humans , Female , Middle Aged , Pancreatic Neoplasms , Carcinoma, Papillary , Pancreas/surgery
J. bras. nefrol ; 38(2): 260-264, tab, graf
Article in Portuguese | LILACS | ID: lil-787868


Resumo A Doença relacionada a IgG4 (IgG4RD) é um processo inflamatório recente de etiologia supostamente autoimune, que se caracteriza por níveis séricos elevados de IgG4, um denso infiltrado mononuclear rico em plasmócitos IgG4 positivos e fibrose estoriforme. A nefrite túbulo-intersticial é a manifestação renal mais comum, com diferentes graus de disfunção renal e achados clínicos variáveis. Aqui, os autores descrevem um novo caso de nefrite túbulo-intersticial associada a IgG4 (NTIgG4), e discutem critérios clínicos e patológicos. Paciente masculino, 72 anos, foi admitido no serviço hospitalar com queixa clínica de astenia, perda de força, emagrecimento e anosmia. A história prévia incluía Diabetes mellitus tipo 2. Os dados laboratoriais incluíam anemia normocrômica, proteinúria e elevação da creatinina. A ultrassonografia/tomografia computadorizada renal bilateral revelou um parênquima heterogêneo, com zonas densas e difusas irregulares, áreas de fibrose nos polos superiores e hidronefrose. A biópsia renal mostrou um infiltrado mononuclear intersticial denso, com mais de 50 plasmócitos por campo de grande aumento, áreas irregulares de fibrose fibroblástica e colagênica, tubulite focal e glomérulos normais. A imunofluorescência revelou deposição granular leve de IgG e C3c na membrana basal tubular. A imuno-histoquímica foi positiva para CD138, cadeias leves Kappa e lambda, e IgG4 (cerca de quarenta e cinco plasmócitos IgG4 positivos por campo de grande aumento). O nível sérico de IgG4 estava aumentado. O diagnóstico de NTIgG4 foi então estabelecido. O paciente recebeu corticoterapia e controle rigoroso da glicemia com insulina, com melhoria significativa dos sintomas e dos níveis de creatinina.

Abstract IgG4-related disease (IgG4RD) is a recent inflammatory process of supposed autoimmune etiology, which is characterized by elevated serum IgG4 levels, dense lymphoplasmacytic infiltration rich in IgG4-positive plasma cells and storiform fibrosis. Tubulointerstitial nephritis is the most common renal manifestation, with different degrees of kidney dysfunction and variable clinical findings. Herein, the authors describe a new case of IgG4 tubulointerstitial nephritis (IgG4TN), and discuss clinic and pathologic criteria. Male patient, 72 years-old, was admitted on hospital service with clinical complaint of asthenia, loss of strength, emaciation, and anosmia. Previous history included type 2 diabetes mellitus. Laboratorial data included normochromic anemia, proteinuria, and creatinine elevation. Bilateral kidney ultrassonography/computed tomography revealed a heterogenous parenchyma, with diffuse irregular dense zones, areas of fibrosis on upper poles, and hydronephrosys. Kidney biopsy showed a dense interstitial lymphoplasmacytic infiltrate, with more than 50 plasma cell per high power field, irregular areas of fibroblastic and collagenous fibrosis, focal tubulitis, and normal glomeruli. Immunofluorescence revealed mild granular deposition of C3c and IgG in the tubular basement membrane. Immunohistochemestry was positive for CD138, lambda and Kappa light chains, and IgG4 (around forty five IgG4 positive plasma cells per high power field). IgG4 serum level was increased. The diagnosis of IgG4TN was then established. The patient received corticotherapy and strict control of glycemia with insulin, with marked improvement of symptoms and creatinine levels.

Humans , Male , Aged , Immunoglobulin G , Nephritis, Interstitial/diagnosis , Nephritis, Interstitial/immunology , Brazil
J. bras. patol. med. lab ; 52(1): 31-34, Jan.-Feb. 2016. tab, graf
Article in English | LILACS-Express | LILACS | ID: lil-775607


ABSTRACT Aggressive papillary endolymphatic sac tumor (ELST) is a rare neoplasm, occasionally related to von Hippel-Lindau disease, characterized by locally aggressive growth with temporal bone destruction. The authors report a case of ELST in a female patient exhibiting fifth through eighth cranial nerve paralysis. Computed tomography (CT) revealed a large lytic process involving the right temporal bone. The patient underwent surgical resection. At microscopy, a neoplastic process was identified exhibiting monomorphic columnar cells with mild atypias, arranged in a papillary pattern. The lesion exhibited positivity for A31/AE3, epithelial membrane antigen (EMA), and vimentin; and negativity for synaptophysin, glial fibrillary acidic protein (GFAP), neuron-specific enolase (NSE), thyroglobulin, transthyretin, chromogranin, thyroid transcription factor 1 (TTF-1), trans-acting T-cell specific transcription factor GATA-3, and intestinal transcription factor CDX-2. The diagnosis of ELST was then established. Six years after surgical resection, lesion recurrence was observed.

RESUMO O tumor papilar agressivo do saco endolinfático (TPASE) é uma neoplasia rara, ocasionalmente relacionada com a doença de von Hippel-Lindau, que se caracteriza pelo crescimento agressivo local com destruição do osso temporal. Os autores relatam um caso de TPASE em paciente do sexo feminino, exibindo paralisia do quinto ao oitavo par craniano. A tomografia computadorizada (TC) revelou grande processo lítico comprometendo o osso temporal direito. A paciente foi submetida a ressecção cirúrgica. À microscopia, identificou-se processo neoplásico que exibiu células cilíndricas monomórficas com atipias leves, dispostas em padrão papilar. A lesão apresentou positividade para AE1/ AE3, antígeno da membrana epitelial (EMA) e vimentina; e negatividade para sinaptofisina, proteína ácida fibrilar glial (GFAP), enolase específica do neurônio (NSE), tireoglobulina, transtirretina, cromogranina, fator de transcrição da tireoide 1 (TTF-1), fator de transcrição de ação trans específico de células GATA-3 e fator de transcrição intestinal CDX-2. O diagnóstico de TPASE foi então estabelecido. Após seis anos da ressecção cirúrgica, foi identificada recorrência da lesão.

Rev. AMRIGS ; 59(4): 267-272, out.-dez. 2015. ilus, tab
Article in Portuguese | LILACS | ID: biblio-835434


Introdução: Os adenomas de hipófi se (AH) correspondem a cerca de 10% a 15% dos tumores intracranianos. Em geral, são lesões com padrão de crescimento expansivo, não encapsuladas, as quais determinam alterações clínicas como distúrbios hormonais, cefaleia e desordens do campo visual. Os AH podem ser classificados radiologicamente como microadenomas, quando medem até 10,0 mm, ou macroadenomas quando excedem esta dimensão. Objetivo: Estimar a associação entre tamanho tumoral com queixa clínica principal, perfi l imuno-histoquímico e recidiva em casos de AH. Método: O presente estudo retrospectivo e analítico avaliou 66 casos de AH, sendo determinadas as seguintes variáveis: sexo, idade, tamanho tumoral, queixa clínica principal, expressão imuno-histoquímica dos anticorpos Prolactina, GH, FSH, LH, ACTH e TSH, e recidiva da neoplasia. Resultados: A média de idade foi igual a 51,8 ± 14,6 anos, com predomínio de mulheres (n=41/62,1%) e de macrodenomas (n=41/62,1%). Cefaleia foi o sintoma mais frequente (n=25/37.9%). A análise imuno-histoquímica foi realizada em 37 casos da amostra, sendo os adenomas com expressão de LH os mais comuns (n=14/37,8%). Nove pacientes (13,6%) apresentaram recidiva da lesão, sendo 5 casos de macroadenoma. O tamanho tumoral esteve associado com a presença de alterações visuais (p=0,019), não sendo encontrada associação desta variável com idade (p=0,620), sexo (p=0,987), expressão imuno-histoquímica dos anticorpos (p=0,198) e recidiva (p=0,721). Conclusão: Os AH representam um grupo de neoplasias relativamente heterogêneas quando avaliados diferentes aspectos anatomopatológicos, clínicos e radiológicos. A classifi cação do tamanho tumoral em microadenoma ou macroadenoma não é fator preditivo do perfi l imuno-histoquímico ou taxa de recidiva.

Background: Hypophyseal adenomas (HA) account for about 10% to 15% of intracranial tumors. They are generally non-encapsulated lesions with an expansive growth pattern, which determine clinical changes such as hormonal disorders, headache and disorders of the visual fi eld. HA can be classifi ed radiographically as microadenomas when measuring up to 10.0 mm, or macroadenomas when they exceed this size. Aim: To estimate the association between tumor size and main clinical complaints, immunohistochemical profi le and relapse in cases of HA. Methods: This retrospective and analytical study evaluated 66 cases of HA, taking the following variables: gender, age, tumor size, main clinical complaint, immunohistochemical expression of prolactin antibodies, GH, FSH, LH, ACTH and TSH, and relapsing neoplasm. Results: Mean age was 51.8 ± 14.6 years, with a predominance of women (n = 41/62.1%) and macrodenomas (n = 41/62.1%). Headache was the most common symptom (n = 25/37.9%). Immunohistochemical analysis was performed on 37 cases of the sample, with LH-expressing tumors being the most common (n = 14/37.8%). Nine patients (13.6%) had recurrence of the injury, 5 cases of macroadenoma. Tumor size was associated with presence of visual disturbances (p = 0.019), but there was no association between this variable and age (p = 0.620), sex (p = 0.987), immunohistochemical expression of antibodies (p = 0.198) and recurrence ( p = 0.721). Conclusion: HA represent a relatively heterogeneous group of neoplasms when different pathological, clinical and radiological aspects are evaluated. The classifi cation of tumor size as microadenoma or macroadenoma is not predictive of the immunohistochemical profi le or relapse rate.

Humans , Adenoma , Immunohistochemistry , Pituitary Neoplasms
Rev. AMRIGS ; 59(4): 282-286, out.-dez. 2015. ilus
Article in Portuguese | LILACS | ID: biblio-835431


Introdução: O carcinoma epidermoide (CEC) representa cerca de 95% dos casos de câncer de cabeça e pescoço, e atualmente corresponde à sexta neoplasia maligna mais prevalente no Brasil. O processo acomete preferentemente homens, e, muitas vezes, o diagnóstico é estabelecido em estágios avançados de doença. Determinadas características anatomopatológicas do tumor, como tamanho e presença de metástases, podem ser correlacionadas com o tempo de sobrevida livre de doença. Objetivo: Estimar a relação entre o grau de diferenciação e a profundidade de invasão com a presença de metástases em linfonodos cervicais em casos de CEC de cabeça e pescoço. Método: Foram avaliados 47 casos distintos de CEC acometendo lábio, língua, palato ou laringe, previamente submetidos à ressecção cirúrgica, sendo determinadas as seguintes variáveis: sexo, idade, tamanho tumoral, grau de diferenciação, profundidade de invasão e presença de metástases em linfonodos cervicais. Resultados: A média de idade correspondeu a 61,9 ± 10,6 anos e o tamanho tumoral médio foi igual a 3,03 ± 1,70 cm. O processo foi mais frequente em 37 homens (78,7%), sendo que 09 destes pacientes apresentaram metástases nodais (24,32%). A presença de metástases esteve associada à profundidade de invasão (p=0,026), não sendo encontrada relação com idade (p=0,591), sexo (p=0,137), topografi a (p=0,394), tamanho tumoral (p=0,612) e grau de diferenciação (p=0,452). Conclusão: O CEC de cabeça e pescoço predomina em homens, e a determinação histopatológica precisa da profundidade de invasão tumoral constitui fator preditivo da presença de metástases nodais.

Background: Squamous cell carcinoma (SCC) accounts for about 95% of cases of head and neck cancer, and currently represents the sixth most prevalent malignancy in Brazil. The process preferably occurs in men, and often the diagnosis is established in advanced stages of disease. Certain pathological tumor characteristics, such as size and presence of metastases, can be correlated with the survival time free of disease. Aim: To estimate the relationship between the degree of differentiation and depth of invasion and the presence of metastasis in cervical lymph nodes in cases of SCC of the head and neck. Method: A total of 47 different cases of SCC affecting lip, tongue, palate, or larynx, previously submitted to surgical resection, were assessed according to the following variables: gender, age, tumor size, degree of differentiation, depth of invasion and metastasis in cervical lymph nodes. Results: The mean age was 61.9 ± 10.6 years and the average tumor size was 3.03 ± 1.70 cm. The process was more frequent in 37 men (78.7%), while 9 of these patients had node metastasis (24.32%). The presence of metastases was associated with depth of invasion (p = 0.026), but no relationship was found with age (p = 0.591), sex (p =0.137), topography (p = 0.394), tumor size (p = 0.612) and degree of differentiation (p = 0.452). Conclusion: SCC of the head and neck is more prevalent among men, and accurate histopathological determination of tumor invasion depth is predictive of the presence of nodal metastases.

Humans , Carcinoma, Squamous Cell , Head and Neck Neoplasms
J. bras. patol. med. lab ; 51(5): 323-328, tab, graf
Article in English | LILACS-Express | LILACS | ID: lil-764558


ABSTRACTIntroduction:Breast invasive carcinoma of no special type (NST) is characterized by great morphological heterogeneity, and accounts for about 70%-80% of malignant breast tumors. The main prognostic factors are tumor size, degree of differentiation, and status of axillary lymph nodes. NST represents 15%-18% of central nervous system metastases (CNSm), and generally the response to systemic treatment/chemotherapy is unsatisfactory.Objective:To estimate the association between clinical and pathological findings of NST with CNSm.Method:Clinical data of 171 specimens of lumpectomy/mastectomy with axillary dissection in NST were evaluated, as well as the following pathological variables: tumor size, histological grade, nodal status, expression of estrogen (ER) and progesterone receptors (PR) and human epidermal growth factor receptor 2 (HER-2/neu) oncogene (c-erb B2), and presence of CNSm. The cases of CNSm in NST underwent resection, and the primary site was identified by immunohistochemistry.Results:The prevalence of CNSm was 9.4% (n = 16), and was related to age (p = 0.01), and the expression of PR (p = 0.004). Although cases of NST with CNSm showed correlation with greater tumor size, higher histological grade and nodal metastases, there was no statistical association (p = 0.221, p = 0.224 and p = 0.99, respectively). Expression of ER and c-erb-B2 was not significant between the two groups (p = 0.072 and p = 0.31, respectively).Conclusion:This study showed that younger patients and the expression of RP correlate with the presence of CNSm. The evaluation of specific pathological findings in NST can help establish risk factors and/or clinical parameters associated with the development of CNSm.

RESUMOIntrodução:O carcinoma ductal invasivo de tipo histológico não especial (CDINE) caracteriza-se por grande heterogeneidade morfológica, sendo responsável por cerca de 70%-80% dos tumores malignos de mama. Os principais fatores prognósticos são o tamanho tumoral, o grau de diferenciação e o status dos linfonodos axilares. O CDINE corresponde a 15%-18% das metástases no sistema nervoso central (MSNC) e, geralmente, sua resposta aos tratamentos sistêmicos/quimioterápicos é pouco satisfatória.Objetivo:Estimar a relação entre achados clínicos e anatomopatológicos do CDINE com a presença de MSNC.Método:Foram avaliadas as informações clínicas de 171 espécimes de setorectomia/mastectomia com esvaziamento axilar por CDINE, sendo determinadas as seguintes variáveis anatomopatológicas: tamanho tumoral, grau histológico, status nodal, expressão dos receptores de estrogênio (RE) e progesterona (RP) e de oncoproteína HER-2/neu/receptor do fator de crescimento epidérmico humano (c-erb-B2) e presença de MSNC. Os casos de MSNC em CDINE foram submetidos a ressecção e comprovação do sítio primário pela técnica de imuno-histoquímica.ResultadosA prevalência de MSNC foi igual a 9,4% (n = 16) e apresentou correlação com faixa etária (p = 0,01) e expressão dos RP (p = 0,004). Embora os casos de CDINE com MSNC estivessem relacionados com maior tamanho tumoral, maior grau histológico e metástases nodais, não foi encontrada associação estatística (p = 0,221, p = 0,224 e p = 0,99, respectivamente). A expressão de RE e c-erb-B2 não foi significativa entre os dois grupos (p = 0,072 e p = 0,31, respectivamente).Conclusão:O presente estudo mostrou que as pacientes mais jovens e a expressão dos RP relacionam-se com a presença de MSNC. A avaliação de achados anatomopatológicos específicos no CDINE pode ajudar a estabelecer fatores de risco e/ou parâmetros clínicos associados ao desenvolvimento de MSNC.

J. bras. patol. med. lab ; 51(4): 246-251, July-Aug. 2015. tab
Article in English | LILACS-Express | LILACS | ID: lil-759318


ABSTRACTIntroduction:Large intestine adenocarcinoma (LIA) is the most common cancer of the gastrointestinal tract, and corresponds to the fifth most common malignancy in Brazil. The main prognostic factors related to LIA are depth of tumor invasion and perivisceral lymph nodes status.Objective:To estimate the relationship between pathological findings and the presence of liver metastases (LM) in LIA cases.Method:We evaluated 51 cases of LIA, previously submitted to surgical resection, in order to determine the following variables: topography, tumor size, macroscopic appearance, degree of differentiation, depth of invasion, nodal status, and presence of LM.Results:The average age was 64.8 years, with predominance of men (n = 26/51.0%) and lesions in the sigmoid colon (n = 18/35.3%). The main general characteristics of the sample were ulcerative-vegetative lesions (n = 20/39.2%), no annular tumors (n = 3/64.7%), moderately differentiated tumor (n = 44/86.3%), absence of mucinous areas (n = 40/78.4%), and mesocolon invasion (n = 29/56.9%). LM were found in 14 cases (27.5%), and is associated with presence of nodal metastases (p = 0.005). Tumor size (p = 0.72), macroscopic appearance (p = 0.362), histological grade (p = 0.147), and depth of invasion (p = 0.195) showed no association with LM presence.Conclusion:LIA has a wide anatomical and pathological heterogeneity. In this study, the presence of LM associated with LIA was related to perivisceral lymph nodes status, with no relation to tumor size, degree of differentiation, and depth of invasion, which suggests that identifying neoplastic angiolymphatic invasion is a possible predictor of liver involvement.

RESUMOIntrodução:O adenocarcinoma de intestino grosso (AIG) é o tumor maligno mais frequente do trato digestivo e corresponde à quinta neoplasia maligna mais comum no Brasil. Os principais fatores prognósticos do AIG são profundidade de invasão neoplásica e status dos linfonodos periviscerais.Objetivo:Estimar a relação entre achados anatomopatológicos e presença de metástases hepáticas (MH) em casos de AIG.Método:Foram avaliados 51 casos de AIG, previamente submetidos à ressecção cirúrgica, e determinadas as seguintes variáveis: topografia, tamanho tumoral, conformação macroscópica, grau histológico, profundidade de invasão, status nodal e presença de MH.Resultados:A média de idade correspondeu a 64,8 anos, com predomínio de homens (n= 26/51,0%) e lesões do cólon sigmoide (n = 18/35,3%). Lesões ulcerovegetantes (n = 20/39,2%), tumores não anelares (n = 3/64,7%), neoplasias moderadamente diferenciadas (n = 44/86,3%), ausência de áreas mucoprodutoras (n= 40/78,4%) e invasão do mesocólon (n = 29/56,9%) foram as principais características gerais da amostra. MH foram encontradas em 14 casos (27,5%), estando associadas à presença de metástases nodais (p = 0,005). Tamanho tumoral (p = 0,72), configuração macroscópica (p = 0,362), grau histológico (p = 0,147) e profundidade de invasão (p = 0,195) não apresentaram associação com a presença de MH.Conclusão:O AIG apresenta heterogeneidade anatomopatológica ampla. No presente estudo, a presença de MH associadas ao AIG esteve relacionada com o status dos linfonodos periviscerais, não havendo relação com tamanho tumoral, grau de diferenciação e profundidade de invasão, sugerindo que a identificação de invasão neoplásica angiolinfática é possível fator preditivo do envolvimento hepático.

J. bras. patol. med. lab ; 51(1): 39-43, Jan-Feb/2015. tab, graf
Article in English | LILACS-Express | LILACS | ID: lil-746528


Mixed epithelial and stromal tumor (MEST) represents a recently described biphasic kidney neoplasm, which predominantly affects perimenopausal females. The authors report the case of a young male patient with a MEST exhibiting positivity for estrogen and progesterone receptors. Computed tomography/magnetic resonance imaging (CT/MRI) showed an expansive lesion affecting the right kidney. Grossly, a solid-cystic tumor was identified, which measured 5.7 × 3.5 × 2.4 cm. On microscopic examination, a biphasic tumor constituted by stromal and epithelial elements, without significant atypias, was identified. The stromal element was composed of spindle cells revealing positive immunoexpression for actin, desmin, vimentin, and estrogen receptors. The epithelial component exhibited a predominantly tubular pattern showing positive immunoreaction for cytokeratins. The diagnosis of MEST was then established.

O tumor epitelial e estromal misto (TESM) representa uma neoplasia renal bifásica descrita recentemente que afeta predominantemente mulheres na perimenopausa. Os autores relatam o caso de um paciente jovem, do sexo masculino, com TESM exibindo positividade para receptores de estrogênio e progesterona. A tomografia computadorizada/ressonância magnética (TC/RM) mostrou lesão expansiva no rim direito. Ao exame macroscópico, identificou-se tumor sólido-cístico medindo 5,7 × 3,5 × 2,4 cm. À microscopia, foi encontrado tumor bifásico constituído por elementos estromais e epiteliais, sem atipias significativas. O componente estromal era composto por células fusiformes, exibindo imunoexpressão positiva para actina, desmina, vimentina e receptores de estrogênio. Os elementos epiteliais mostraram padrão predominantemente tubular e exibiram imunorreação positiva para citoqueratinas. O diagnóstico de TESM foi então estabelecido.

J. bras. patol. med. lab ; 50(3): 238-241, May-Jun/2014. tab, graf
Article in English | LILACS | ID: lil-715617


Solitary gastric plexiform neurofibroma (PN) is a very rare tumor that originates from the peripheral nerves. PN is a rare cause of pyloric obstruction. A 58 year-old man, reported epigastric discomfort, nausea, and vomiting for two months. Upper digestive endoscopy showed a moderate/accentuated pyloric stenosis. Computed tomography (CT) and echoendoscopy revealed a pyloric nodule. The patient underwent to distal gastrectomy. Macroscopically, a gray nodule measuring 1.1 × 1.0 × 1.0 cm was identified. Using microscopy, a benign tumor composed of enlarged tortuous nerve fascicles showing a neurofibromatous proliferation with mild atypia and myxoid matrix was found. The lesion showed positive immunoexpression for S100, Leu7, and epithelial membrane antigen (EMA), and was negative for CD117, DOG-1, desmin, and smooth muscle actin. The diagnosis of PN was then determined...

Neurofibroma plexiforme (NP) gástrico solitário é um tumor muito raro originado a partir dos nervos periféricos. É uma causa rara de obstrução pilórica. Paciente masculino, 58 anos, relatava desconforto epigástrico, náuseas e vômitos durante dois meses. A endoscopia digestiva superior mostrou estenose moderada/acentuada do piloro. Tomografia computadorizada (TC)/ ecoendoscopia revelaram nódulo no piloro. O paciente foi submetido a gastrectomia distal. À macroscopia, identificou-se nódulo cinzento medindo 1.1 × 1 × 1 cm. À microscopia, encontrou-se tumor benigno composto por fascículos nervosos dilatados/ tortuosos, exibindo proliferação neurofibromatosa com atipias leves e matriz mixoide. A lesão exibiu imunoexpressão positiva para S100, Leu7 e antígeno da membrana epitelial (EMA), e negatividade para CD117, DOG-1, desmina e actina de músculo liso. O diagnóstico de PN foi, então, determinado...

Humans , Male , Middle Aged , Neurofibroma, Plexiform/diagnosis , Pylorus/pathology , Stomach Neoplasms/pathology , Gastrointestinal Neoplasms/diagnosis , Tomography, X-Ray Computed
J. bras. patol. med. lab ; 50(3): 234-237, May-Jun/2014. graf
Article in English | LILACS | ID: lil-715621


Tufting enteropathy (TE), also known as intestinal epithelial dysplasia (IED), is a rare congenital enteropathy related to an earlyonset of severe intractable diarrhea due to specific abnormalities of the intestinal epithelium and mutations of the EpCAM gene. TE is characterized by clinical and histological heterogeneity, such as with low or without mononuclear cell infiltration of the lamina propria, and abnormalities of basement membrane. TE can be associated with malformations, other epithelial diseases, or to abnormal enterocytes development and/or differentiation. The authors report a case of a Brazilian child with TE associated with c.556-14A>G mutation in the EpCAM gene (NM_002354.2)...

Enteropatia com formação de tufos epiteliais (ETE), também conhecida como displasia epitelial intestinal (DEI), é uma rara enteropatia congênita relacionada com um início precoce de diarreia intratável grave devido a anormalidades específicas do epitélio intestinal e mutações do gene EpCAM. ETE caracteriza-se por uma heterogeneidade clínica e histológica, como ausência ou leve infiltrado de células mononucleares na lâmina própria e anormalidades de membrana basal. Pode ser associada a malformações, outras doenças epiteliais ou anormalidades no desenvolvimento/na diferenciação dos enterócitos. Os autores relatam um caso de ETE, em uma criança brasileira, associada à mutação c.556-14A> g do gene EPCAM (NM_002354.2)...

Humans , Female , Child , Epithelial Cells/pathology , Intestinal Diseases/genetics , Cell Adhesion Molecules/genetics , Diarrhea, Infantile , Intestinal Mucosa/pathology