Independent real-world application of a clinical-grade automated prostate cancer detection system.

Artificial intelligence (AI)-based systems applied to histopathology whole-slide images have the potential to improve patient care through mitigation of challenges posed by diagnostic variability, histopathology caseload, and shortage of pathologists. We sought to define the performance of an AI-based automated prostate cancer detection system, Paige Prostate, when applied to independent real-world data. The algorithm was employed to classify slides into two categories: benign (no further review needed) or suspicious (additional histologic and/or immunohistochemical analysis required). We assessed the sensitivity, specificity, positive predictive values (PPVs), and negative predictive values (NPVs) of a local pathologist, two central pathologists, and Paige Prostate in the diagnosis of 600 transrectal ultrasound-guided prostate needle core biopsy regions ('part-specimens') from 100 consecutive patients, and to ascertain the impact of Paige Prostate on diagnostic accuracy and efficiency. Paige Prostate displayed high sensitivity (0.99; CI 0.96-1.0), NPV (1.0; CI 0.98-1.0), and specificity (0.93; CI 0.90-0.96) at the part-specimen level. At the patient level, Paige Prostate displayed optimal sensitivity (1.0; CI 0.93-1.0) and NPV (1.0; CI 0.91-1.0) at a specificity of 0.78 (CI 0.64-0.89). The 27 part-specimens considered by Paige Prostate as suspicious, whose final diagnosis was benign, were found to comprise atrophy (n = 14), atrophy and apical prostate tissue (n = 1), apical/benign prostate tissue (n = 9), adenosis (n = 2), and post-atrophic hyperplasia (n = 1). Paige Prostate resulted in the identification of four additional patients whose diagnoses were upgraded from benign/suspicious to malignant. Additionally, this AI-based test provided an estimated 65.5% reduction of the diagnostic time for the material analyzed. Given its optimal sensitivity and NPV, Paige Prostate has the potential to be employed for the automated identification of patients whose histologic slides could forgo full histopathologic review. In addition to providing incremental improvements in diagnostic accuracy and efficiency, this AI-based system identified patients whose prostate cancers were not initially diagnosed by three experienced histopathologists. © 2021 The Authors. The Journal of Pathology published by John Wiley & Sons, Ltd. on behalf of The Pathological Society of Great Britain and Ireland.

Gene expression profiling of lobular carcinoma in situ reveals candidate precursor genes for invasion.

PURPOSE: Lobular carcinoma in situ (LCIS) is both a risk indicator and non-obligate precursor of invasive lobular carcinoma (ILC). We sought to characterize the transcriptomic features of LCIS and ILC, with a focus on the identification of intrinsic molecular subtypes of LCIS and the changes involved in the progression from normal breast epithelium to LCIS and ILC. METHODS: Fresh-frozen classic LCIS, classic ILC, and normal breast epithelium (N) from women undergoing prophylactic or therapeutic mastectomy were prospectively collected, laser-capture microdissected, and subjected to gene expression profiling using Affymetrix HG-U133A 2.0 microarrays. RESULTS: Unsupervised hierarchical clustering of 40 LCIS samples identified 2 clusters of LCIS distinguished by 6431 probe sets (p < 0.001). Genes identifying the clusters included proliferation genes and other genes related to cancer canonical pathways such as TGF beta signaling, p53 signaling, actin cytoskeleton, apoptosis and Wnt-Signaling pathway. A supervised analysis to identify differentially expressed genes (p < 0.001) between normal epithelium, LCIS, and ILC, using 23 patient-matched triplets of N, LCIS, and ILC, identified 169 candidate precursor genes, which likely play a role in LCIS progression, including PIK3R1, GOLM1, and GPR137B. These potential precursor genes map significantly more frequently to 1q and 16q, regions frequently targeted by gene copy number alterations in LCIS and ILC. CONCLUSION: Here we demonstrate that classic LCIS is a heterogeneous disease at the transcriptomic level and identify potential precursor genes in lobular carcinogenesis. Understanding the molecular heterogeneity of LCIS and the potential role of these potential precursor genes may help personalize the therapy of patients with LCIS.

Molecular classification of estrogen receptor-positive/luminal breast cancers.

Estrogen receptor (ER)-positive breast cancer is the most prevalent subtype of invasive breast cancers. Patients with ER-positive breast cancers have variable clinical outcomes and responses to endocrine therapy and chemotherapy. With the advent of microarray-based gene expression profiling, unsupervised analysis methods have resulted in a classification of ER-positive disease into subtypes with different outcomes (ie, luminal A and luminal B); subsequent studies have demonstrated that these subtypes have different patterns of genetic aberrations and outcome. Studies based on supervised methods of microarray analysis have led to the development of prognostic gene signatures that identify a subgroup of ER-positive breast cancer patients with excellent outcome, who could forego chemotherapy. Despite the excitement with these approaches, several lines of evidence have demonstrated that the subclassification of ER-positive cancers and the prognostic value of gene signatures is largely driven by the expression levels of proliferation-related genes and that proliferation markers, such as Ki67, may provide equivalent prognostic information to that provided by gene signatures. In this review, we discuss the contribution of gene expression profiling to the classification of ER-positive breast cancer, the role of prognostic and predictive signatures, and the potential stratification of ER-positive disease according to their dependency on the phosphatidylinositol 3-kinase pathway.

Rabbit antibodies for hormone receptors and HER2 evaluation in breast cancer.

BACKGROUND: Novel rabbit monoclonal antibodies (RabMab) for estrogen (ER), progesterone (PR) receptors and HER2 evaluation by immunohistochemistry have recently been commercially released. We compared the RabMab anti-ER, anti-PR and anti-HER2 to mouse monoclonal antibodies (Mab) using tissue microarrays (TMA) of breast carcinomas. METHODS: Two TMA containing breast carcinomas were built. Sections were immunostained using anti-ER and anti-PR, Mab and RabMab. The sections stained for ER and PR were evaluated considering positive those tumors in which more than 1% of the tumor cell nuclei stained moderate or strong. For HER2, the immunostained sections were evaluated using the ASCO/CAP guidelines for HER2. Chromogenic in situ hybridization (CISH) was used as the gold standard for HER2 evaluation. CISH was evaluated using the Zymed HER2 CISH interpretation guidelines. RESULTS: RabMab against ER have similar staining patterns compared to the 6F11 (Mab), but stronger than 1D5 (Mab) from three different suppliers. The RabMab against PR provide stronger and sharper immunohistochemical signals compared to Mab. The detection of HER2 protein overexpression was more prevalent with the polyclonal antibodies and RabMab than with the Mab. These were more specific than the RabMab, which were more sensitive when compared to CISH. CONCLUSION: The novel RabMab against ER and PR showed higher intensity of staining than the Mab. The RabMab against HER2 is more sensitive than Mab, however, Mab presented more specificity than RabMab when compared to CISH for HER2 evaluation of breast carcinomas.

Rabbit antibodies for hormone receptors and HER2 evaluation in breast cancer / Anticorpos de coelho para avaliação de receptores hormonais e HER2 em câncer de mama

BACKGROUND: Novel rabbit monoclonal antibodies (RabMab) for estrogen (ER), progesterone (PR) receptors and HER2 evaluation by immunohistochemistry have recently been commercially released. We compared the RabMab anti-ER, anti-PR and anti-HER2 to mouse monoclonal antibodies (Mab) using tissue microarrays (TMA) of breast carcinomas. METHODS: Two TMA containing breast carcinomas were built. Sections were immunostained using anti-ER and anti-PR, Mab and RabMab. The sections stained for ER and PR were evaluated considering positive those tumors in which more than 1 percent of the tumor cell nuclei stained moderate or strong. For HER2, the immunostained sections were evaluated using the ASCO/CAP guidelines for HER2. Chromogenic in situ hybridization (CISH) was used as the gold standard for HER2 evaluation. CISH was evaluated using the Zymed HER2 CISH interpretation guidelines. RESULTS: RabMab against ER have similar staining patterns compared to the 6F11 (Mab), but stronger than 1D5 (Mab) from three different suppliers. The RabMab against PR provide stronger and sharper immunohistochemical signals compared to Mab. The detection of HER2 protein overexpression was more prevalent with the polyclonal antibodies and RabMab than with the Mab. These were more specific than the RabMab, which were more sensitive when compared to CISH. CONCLUSION: The novel RabMab against ER and PR showed higher intensity of staining than the Mab. The RabMab against HER2 is more sensitive than Mab, however, Mab presented more specificity than RabMab when compared to CISH for HER2 evaluation of breast carcinomas.

OBJETIVOS: Novos anticorpos monoclonais de coelho (RabMab) para a avaliação imuno-histoquímica de receptores de estrógeno (RE), progesterona (RP) e HER2 foram lançados comercialmente. Comparamos os RabMab anti-RE, anti-RP e anti-HER2 com os anticorpos monoclonais de camundongo (Mab) utilizando tissue microarrays (TMA) de carcinomas de mama. MÉTODOS: Foram construídos dois TMAs de carcinomas de mama. As secções foram marcadas usando anti-RE, anti-RP e anti-HER2, Mab e RabMab através de imuno-histoquímica. As secções marcadas para RE e RP foram avaliadas considerando positivos aqueles tumores nos quais mais de 1 por cento dos núcleos coraram moderadamente ou forte. Para HER2, as secções foram avaliadas utilizando as recomendações da ASCO/CAP para HER2. Hibridização in situ cromogênica (CISH) foi usada como padrão-ouro para avaliação de HER2. CISH foi avaliado utilizando as recomendações da Zymed. RESULTADOS: Os RabMab anti-RE apresentam intensidade de coloração semelhante ao 6F11 (Mab), porém maior que o 1D5 (Mab) proveniente de três diferentes fabricantes. Os RabMab anti-RP apresentaram sinal imunoistoquímico mais forte e delimitado comparado aos Mab. A detecção da superexpressão da proteína HER2 foi mais prevalente entre os anticorpos policlonais e RabMab, que se mostraram mais sensíveis quando comparados com o CISH. CONCLUSÃO: Os novos RabMab anti-RE e RP proporcionaram maior intensidade de coloração que os Mab. O RabMab anti-HER2 apresentou maior sensibilidade que os Mab, porém os Mab apresentaram maior especificidade quando comparados com o CISH para a avaliação de HER2 em carcinomas de mama.

Detection of SS18-SSX fusion transcripts in formalin-fixed paraffin-embedded neoplasms: analysis of conventional RT-PCR, qRT-PCR and dual color FISH as diagnostic tools for synovial sarcoma.

Synovial Sarcoma consistently harbors t(X;18) resulting in SS18-SSX1, SS18-SSX2 and rarely SS18-SSX4 fusion transcripts. Of 328 cases included in our study, synovial sarcoma was either the primary diagnosis or was very high in the differential diagnosis in 134 cases: of these, amplifiable cDNA was obtained from 131. SS18-SSX fusion products were found in 126 (96%) cases (74 SS18-SSX1, 52 SS18-SSX2), using quantitative and 120 by conventional reverse transcriptase-polymerase chain reaction (RT-PCR). One hundred and one cases in a tissue microarray, analyzed by fluorescence in situ hybridization (FISH), revealed that 87 (86%) showed SS18 rearrangement: four RT-PCR positive cases, reported as negative for FISH, showed loss of one spectrum green signal, and 15 cases had multiple copies of the SS18 gene: both findings are potentially problematic when interpreting results. One of three cases, not analyzed by RT-PCR reaction owing to poor quality RNA, was positive by FISH. SS18-SSX1 was present in 56 monophasic and 18 biphasic synovial sarcoma: SS18-SSX2 was detected in 41 monophasic and 11 biphasic synovial sarcoma. Poorly differentiated areas were identified in 44 cases (31%). There was no statistically significant association between biphasic, monophasic and fusion type. Five cases were negative for SS18 rearrangement by all methods, three of which were pleural-sited neoplasms. Following clinical input, a diagnosis of mesothelioma was favored in one case, a sarcoma, not otherwise specified in another and a solitary fibrous tumor in the third case. The possibility of a malignant peripheral nerve sheath tumor could not be excluded in the other two cases. We concluded that the employment of a combination of molecular approaches is a powerful aid to diagnosing synovial sarcoma giving at least 96% sensitivity and 100% specificity but results must be interpreted in the light of other modalities such as clinical findings and immunohistochemical data.

Eosinophilic angiocentric fibrosis of the sinonasal tract: report on the clinicopathologic features of a case and review of the literature.

BACKGROUND: Eosinophilic angiocentric fibrosis (EAF) is a rare fibroinflammatory lesion of the sinonasal tract that occurs mainly in young to middle-aged female patients. Only two previous cases affecting male patients have been reported, and its etiopathogenesis remains unknown. The authors report on the third case of the entity in a male patient and review the 12 previously reported cases. CASE REPORT: A 52-year-old male patient was initially seen with a 15 years history of allergic rhinitis, progressive nasal obstruction, and left-sided hearing loss. All laboratory tests were unremarkable, except the nasal discharge eosinophil count that showed a conspicuous eosinophilia. The video-assisted-nasofibroscopic examination and CT scans disclosed a thickened deviated nasal septum with a subjacent infiltrative lesion. The histologic analysis of the nasal septum showed a variable mixed inflammatory cellular infiltration mainly composed of eosinophils, plasma cells, and histiocytes with a perivascular distribution; in other areas, an angiocentric fibrosing lesion with a peculiar perivascular onion-skin pattern was observed. The patient had a partial resection of the lesion with symptomatic control. CONCLUSIONS: The presence of rhinitis and nasal eosinophilia in our case associated with the clinical aspects of the previously reported cases further support an allergic cause for EAF.

Metástase de câncer gástrico simulando neoplasia primária de pulmão: relato de caso e revisão da literatura / Gastric cancer metastasis mimicking primary lung cancer: case report and review of the literature

O adenocarcinoma gástrico apresenta, freqüentemente, disseminação por extensão direta para órgãos vizinhos. Metástases para sítios distantes, como o pulmão, são menos freqüentes, sugerindo usualmente outras doenças. O objetivo deste artigo é apresentar o caso de um paciente de 47 anos de idade, cujos exames de imagem (radiografias simples e tomografia computadorizada de tórax) apresentaram características sugestivas de neoplasia pulmonar primária e com diagnóstico simultâneo de câncer gástrico evidenciado pela endoscopia digestiva alta. A biópsia, guiada por fibrobroncoscopia, da massa torácica confirmou o diagnóstico de metástase pulmonar de adenocarcinoma gástrico. Além da apresentação do caso, é feita uma revisão do padrão de disseminação do câncer gástrico.

Giant cell collagenoma: case report and review of the literature.

BACKGROUND: Giant cell collagenoma (GCC) is a recently described cutaneous fibrous neoplasm that usually affects young to middle-aged adults. Despite its similar histological appearance with circumscribed storiform collagenoma, no association of GCC with Cowden's syndrome has been described so far. To the best of our knowledge only five cases of this rare fibrous tumor have been reported so far. METHODS: We report a case of a 79-year-old male patient presenting with a slow growing flesh-colored dome-shaped lesion in his left forearm, with a clinical diagnosis of fibroma. No stigma of Cowden's syndrome was depicted. RESULTS: The histological analysis showed a symmetrical and well-circumscribed flat-dome-shaped lesion covered by an atrophic overlying epidermis. The neoplasm was composed of hyalinized collagen bundles disposed in a whorled storiform pattern. Admixed with the collagen matrix, there were two distinct cell populations, one composed by spindle-shaped mononuclear cells, and the other composed by bizarre multinucleated giant cells. Immunohistochemical analysis showed positivity for vimentin and actin HHF35 in the mononucleated. The multinucleated cells only immunoexpressed vimentin. CONCLUSION: GCC is an unusual cutaneous fibrous tumor that should be differentiated from circumscribed storiform collagenoma, pleomorphic fibroma, regressive forms of dermatofibroma, and solitary myofibroma based on its histological features.

Correlaçäo entre as expressöes de P-caderina e de receptores de estrógeno no câncer da mama / Correlation between P-cadherin and estrogen receptor expression in breast cancer

Introduçäo: A manutençäo da arquitetura dos tecidos adultos depende essencialmente da integridade estrutural e funcional das caderinas, uma superfamília de moléculas de adesäo celular dependentes de cálcio, que medeiam normalmente a adesäo intercelular homofílica e homotípica. A P-caderina é expressa pelas células mioepiteliais da glândula mamária normal, sendo aberrantemente expressa num pequeno subgrupo de carcinomas da mama. Vários estudos recentes têm demonstrado que a expressäo desta proteína está significativamente correlacionada com tumores de alto grau histológico e negativos para os receptores de estrógeno (RE). Objetivos: Investigar a expressäo da P-caderina e dos receptores de estrógeno (RE) em carcinomas da mama invasivos e correlacionar os resultados obtidos. Material e método: O padräo de expressäo da P-caderina e dos RE foi estudado imunoistoquimicamente em 149 carcinomas invasivos da mama; seguidamente, correlacionou-se estatisticamente a expressäo destas duas proteínas. Resultados: A P-caderina foi detectada nas células mioepiteliais do tecido mamário normal e em 46 de 146 (31,5 por cento) casos de carcinoma invasivo da mama. A expressäo da P-caderina correlacionou-se inversamente com a expressäo dos RE, verificando-se que o subgrupo de tumores P-caderina positivos e RE negativos apresentava alto grau histológico e maior agressividade tumoral. Conclusäo: Demonstrou-se que a P-caderina identifica um subgrupo de carcinomas da mama, que näo expressa RE e que parece representar um estado mais avançado da progressäo tumoral. Estes resultados levantam ainda a hipótese de que a expressäo desta proteína possa ser regulada por uma via alternativa, independente de estrógeno

Lipoma-like hibernoma: an atypical lipoma/well-differentiated liposarcoma mimicker

Hibernomas are benign lipomatous tumors which show differentiation toward brown fat. Recently, unusual variants have been described, including myxoid, spindle cell, and lipoma-like variants. Lipoma-like hibernoma (LLH) is characterized by mature univacuolated adipocytic cells with rare admixed multivacuolated brown fat-like cells, which may resemble lipoblasts, leading to a misdiagnosis of atypical lipoma/well-differentiated liposarcoma (AL/WDLS). We herein report a case of LLH arising on the anterior aspect of the left thigh of a 17-year-old female. A marginal excision was performed. The patient was discharged and remains well four months after surgery. Histological examination showed a lobulated neoplasm composed of univacuolated mature adipose cells admixed with small vessels and occasional mast cells. Scattered islands of brown fat-like cells accounting for less than 10 percent of the neoplasm were found. Sometimes these cells presented indented and scalloped nuclei, resembling lipoblasts. A final diagnosis of LLH was made based on the presence of focal areas with typical hibernoma morphology, and the lack of atypical hyperchromatic stromal cells. Pathologists must be aware of the typical histological findings of LLH, not to confuse it with AL/WDLS

Doenças cerebrovasculares em pacientes entre 15 e 40 anos: achados neuropatológicos em 47 casos / Cerebrovascular diseases in patients aged 15 to 40 years: neuropathological findings in 47 cases

As doenças cerebrovasculares em pacientes entre 15 e 40 anos säo pouco estudadas na literatura latino americana, principalmente no que tange aos achados neuropatológicos. Analisamos 47 encéfalos provenientes de necrópsias completas realizadas no período de 1987 a 1997 selecionados com base na faixa etária e alteraçäo neuropatológica básica envolvendo fenômenos vasculares. Destes 47 casos analisados, 26 eram (55,3 por cento) do sexo feminino. Quanto à distribuiçäo etária, 12,8 por cento (n=06) acometeram pacientes entre 15 e 20 anos, 51,1 por cento (n=24) entre 21 e 30 anos, 36,2 por cento (n=17) entre 31 e 40 anos. As doenças básicas que culminaram no óbito foram agrupadas, sendo mais frequentes as doenças cardíacas e hematológicas (19,2 por cento), alteraçöes decorrentes de complicaçöes de gestaçäo (12,8 por cento), doenças infecciosas, doenças dos vasos sanguíneos e doenças neurológicas (10,7 por cento) entre outras. As alteraçöes neuropatológicas incluíram hérnia cerebral e/ou cerebelar (16 por cento), edema cerebral (13,8 por cento), hemorragia subaracnóidea (10 por cento), infarto cerebral recente (9 por cento), hemorragia intraparequimatosa (8 por cento), encefalopatia hipóxico-isquêmica (3 por cento) e eventos menos comuns como a síndrome de Sneddon e vasculite lúpica. Tais achados expressam que os fenômenos cerebrovasculares têm, nesta faixa etária, perfil próprio com estreita relaçäo com a doença de base

Invasive medullary thymoma associated with myasthenia gravis: an unusual case

Thymomas are tumors characterized by a remarkable morphological heterogeneity and variable clinical behavior. This tumor has unique clinical associations, most notably with hematological abnormalities and myasthenia gravis. According with the Müller-Hermelink criteria, there are significant differences between the histological types of thymomas and the association with myasthenia gravis. Among the different histological types, medullary thymoma is the least frequent variant associated with this autoimmune disease. In this report we describe a case of medullary thymoma presenting in a 71-year- old woman with a myasthenic syndrome

Neurocisticercose: estudo clínico e patológico de 27 casos de necrópsia / Neurocysticercosis: a clinical and pathological study of 27 necropsied cases

Neurocisticercose é a mais frequente e disseminada neuroparasitose humana. O desenvolvimento de lesoes no cérebro e leptomeninges, com consequente aparecimento de sintomas, está relacionado com a resposta imune do hospedeiro, ao número e à fase de involuçao dos parasitas . Relatamos os achados anatomopatológicos durante a necrópsia em 27 casos de neurocisticercose, que corresponderam a 3,1 por cento dos casos necropsiados no serviço. 77 por cento dos pacientes eram masculinos, com idade variando entre 18 e 85 anos. Em 26 por cento dos casos havia história de alcoolismo. A análise clinico-patológica mostrou que 50 por cento dos casos eram da forma assintomática, 11 por cento da forma epiléptica, 11 por cento da forma intraventricular e 11 por cento da forma combinada. 33 por cento dos pacientes apresentaram crise epiléptica como fator agravante do quadro clínico. O cisticerco era único em 60 por cento dos casos, a forma cellulosae estava presente em 82 por cento e a racemosa em 7 por cento dos casos, sendo os 11 por cento restantes portadores da forma combinada. Em 30 por cento dos pacientes a causa mortis estava relacionada com a presença do cisticerco no sistema nervoso central. Nossos achados confirmam a alta morbidade desta parasitose

Hemangioblastomas: achados clínicos, epidemiológicos e anatomopatológicos em 14 casos / Haemangioblastomas: clinical, epidemiological and pathological findings in 14 cases

Relatamos os achados clínicos, epidemiológicos e anatomopatológicos de 14 casos de hemangioblastoma. Sessenta e quatro por cento ocorreram em pacientes do sexo masculino, com idades variando de 16 a 60 anos, com média de 34,4 anos. Nove localizaram-se no cerebelo. Os sintomas mais comuns foram cefaléia (n=7) e tontura (n=7), com período médio de evolução de 70 dias. O diagnóstico de síndrome de von Hippel-Lindau (vHL) foi feito em 3 pacientes. Onze pacientes foram submetidos a ressecção cirúrgica total e 3 a exérese parcial. Evidenciou-se recidiva em 28 ppor cento dos casos, em 3 anos de acompanhamento. Os pacientes com vHL apresentaram recidiva em 66 por cento dos casos. Estes achados aproximam-se dos encontrados na literatura, enfatizando a morbidade deste tumor quando associado à vHL.

Meduloblastomas: achados clínicos, epidemiológicos e anátomo-patológicos de 28 casos / Medulloblastomas: clinical, epidemiological and pathological findings of 28 cases

Relatamos os achados clínicos, epidemiológicos e anátomo-patológicos de 28 casos de meduloblastomas. Dos 28 pacientes analisados, 22 eram do sexo masculino e seis do sexo feminino. As idades variaram de 1 a 50 anos, com média de 15 anos. Os sinais e sintomas de maior frequência foram cefaléia (64 por cento) e vômitos (64 por cento). Em relação ao tratamento, a maioria dos pacientes foi submetida a ressecção cirúrgica total (n=10) ou a exérese parcial (n=7). Com a exceção de um paciente que apresentava meduloblastoma desmoplásico, os demais apresentavam a forma clássica do meduloblastoma. Foi evidenciada uma taxa de recidiva tumoral total de 21 por cento (n=6) em 4 anos de seguimento clínico. A quimioterapia adjuvante parece contribuir para melhor evolução clínica dos pacientes. Estes achados aproximam-se dos encontrados na literatura, contribuindo para a compreensão do comportamento biológico deste tumor.

Doença de Krabbe - relato de caso / Krabbe's disease - case report

Objetivo: relatar um caso de doença de Krabbe com estuto de necropsia. Métodos: Revisão de prontuários e laudos de necrópsia. Resultados: Paciente masculino, 8 meses, apresentou tremores de extremidades, dificuldade para de deglutição e salivação excessiva há 4 meses, evoluindo com vômitos e picos febris noturnos. O exame físico demonstrou microcefalia e dispersão pigmentar difusa da retina. Ao exame neurológico, evidenciou-se flexão e hipertonia espástica dos membros superiores, com abdução dos polegares, hiperreflexiaa simétrica generalizada com sinal de Babinski bilateral, nistagmo relatório, bem como espasmos espontâneos. O exame eletroencefalográfico demonstrou atividade irritativa multifocal. Houve ainda proteinorraquia com aumento da gamaglobuna. O paciente evoluiu com hipertermia transitória, vômitos e pneumopatia, indo a óbito no 23§ dia de internação. A necrópsia demonstrou microcefalia com encéfalo apresentando giros alargados. Microscopicamente evidenciaram-se numerosas células globóides na porção profunda da substância branca, gliose nacianal e desmielinização. Conclusões: Estes achados foram semelhantes aos da literatura mundial, indicando um prognóstico sombrio devido a lesões cerebrais substanciais

Diagnóstico citológico de hepatoblastoma: estudo de caso com ênfase nos achados citopatológicos / Cytological diagnosis of hepatoblastoma: case report with emphasis to cytopathological findings

Os autores apresentam um caso de hepatoblastoma diagnosticado mediante punçäo por agulha fina, sendo este o primeiro descrito na literatura latino-americana. O paciente era do sexo masculino e tinha oito meses, apresentando intensa irritabilidade, com achado de hepatomegalia volumosa de superfície regular. O estudo citopatológico definiu o diagnóstico de hepatoblastoma do tipo fetal. Dada a escassez de relatos na literatua acerca da importância da punçäo aspirativa como método diagnóstico pré-operatório em lesöes hepáticas pediátricas, esse estudo vem enfatizar a importância da adoçäo deste método na rotina diagnóstica

Oligodendrogliomas: estudo anatomopatológico e clínico de 15 casos / Oligodendroglioma: a pathological and clinical study o 15 cases

Oligodendrogliomas correspondem a 4-5 por cento dos tumores primários do sistema nervoso central apresentando crescimento infiltrativo e lento. Relatamos os achados anatomopatológicos e clínicos de 15 casos de oligodendrogliomas. Oito pacientes eram do sexo masculino e 7 do feminino. As idade oscilaram entre 17 e 66 anos, apresentando média de 39,73 anos. A sintomatologia apresentada correspondeu ao crescimento expansivo, sendo cefaléia (60 por cento) e crises convulsivas (60 por cento) os sintomas mais frequentes. O lobo frontal (n=6) foi o sítio anatômico mais acometido, seguido pelo parietal (n=2), temporal (n=1) e occipital (n=1). Cinco pacientes foram submetidos a ressecção total do tumor e 10 pacientes a exerese parcial; dentre estes, 3 foram submetidos a radioterapia adjuvante, 1 a quimioterapia e 1 a quimio e radioterapia. Evidenciou-se taxa de recidiva tumoral total de 60 por cento em período médio de 32 meses de acompanhamento. Cinco recidivas tumorais ocorreram nos pacientes submetidos apenas ao tratamento cirúrgico e quatro nos pacientes submetidos a quimio ou radioterapia adjuvante. Estes achados aproximam-se dos encontrados na literatura, auxiliando na compreensão do comportamento biológico deste raro tumor cerebral.

Craniofaringiomas: achados clínicos, epidemiológicos e anatomopatológicos de 25 casos / Craniopharyngiomas: clinical, epidemiological and pathological findings of 25 cases

Relatamos os achados clínicos, epidemiológicos e anatomopatológicos de 25 casos de craniofaringiomas. Dos 25 pacientes analisados, 14 ocorreram em pacientes do sexo masculino e 11 em pacientes femininos. As idades variaram de 3 a 64 anos, com média de 30,52 anos. Quanto à localização, 12 casos foram supra-selares, 10 ocorreram em região selar, sendo que 8 apresentaram extensão supra-sela, dois localizaram-se em lobo frontal e 1 em região ponto-cerebelar. Os sinais e sintomas observados incluiram alterações visuais (72 por cento dos pacientes), cefaléia (68 por cento), vômitos (40 por cento) e edema de papila (24 por cento), com período de evolução variando de 18 dias a 60 meses, com média de 11,66 meses. Treze pacientes foram submetidos a ressecção cirúrgica parcial, 11 a exérese total e 1 a ressecção parcial associada a quimioterapia adjuvante. Evidenciou-se taxa de recidiva tumoral total de 48 por cento. Sete recidivas tumorais ocorreram nos pacientes submetidos apenas a exérese parcial, quatro nos pacientes submetidos a tumorectomia total e 1 no submetido a tratamento cirúrgico associado a quimioterapia. Estes achados aproximam-se dos encontrados na literatura, corroborando para a compreeensão do comportamento biológico deste tumor e apontando a extensão do tumor tecidual como único fator prognóstico para recidiva desta neoplasia.