RESUMO
Familial primary localized cutaneous amyloidosis (FPLCA) is an autosomal-dominant disorder associated with chronic skin itching and deposition of epidermal keratin filament-associated amyloid material in the dermis. FPLCA has been mapped to 5p13.1-q11.2, and by candidate gene analysis, we identified missense mutations in the OSMR gene, encoding oncostatin M-specific receptor beta (OSMRbeta), in three families. OSMRbeta is a component of the oncostatin M (OSM) type II receptor and the interleukin (IL)-31 receptor, and cultured FPLCA keratinocytes showed reduced activation of Jak/STAT, MAPK, and PI3K/Akt pathways after OSM or IL-31 cytokine stimulation. The pathogenic amino acid substitutions are located within the extracellular fibronectin type III-like (FNIII) domains, regions critical for receptor dimerization and function. OSM and IL-31 signaling have been implicated in keratinocyte cell proliferation, differentiation, apoptosis, and inflammation, but our OSMR data in individuals with FPLCA represent the first human germline mutations in this cytokine receptor complex and provide new insight into mechanisms of skin itching.
Assuntos
Amiloidose Familiar/genética , Subunidade beta de Receptor de Oncostatina M/genética , Sequência de Aminoácidos , Amiloidose Familiar/patologia , Brasil , Técnicas de Cultura de Células , Cromossomos Humanos Par 5 , Análise Mutacional de DNA , Feminino , Genes Dominantes , Humanos , Queratinócitos , Masculino , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Subunidade beta de Receptor de Oncostatina M/química , Linhagem , Homologia de Sequência , África do Sul , Reino UnidoRESUMO
Infiltrating syringomatous adenoma of the nipple is a rare, benign, locally invasive tumor with recurrence potential, showing sweat duct differentiation. It can clinically, radiologically and pathologically mimic cancer. Histopathologically, it must be distinguished from florid papillomatosis, adenosquamous carcinoma, adenoid cystic carcinoma and sclerosing syringomatous carcinoma. A 44-year-old woman presented with pain on the right nipple for 7 days. On physical exam there was an irregular nodule on nipple area with edema. The skin was intact. The ultrasound showed a hypoechoic irregular nodule measuring 7.5 mm in the nipple area. The mammography was unspecific. The lesion was surgically removed and histopathologically, the tumor was composed of ducts and tubules lined with a double-layered epithelial cells. The lining cells were small, cuboidal with a central nuclei and eosinophilic nuclei. The stroma was dense with lymphocytes and plasma cells, and compressed many of the ducts that contained a comma or tadpole-shape, giving an impression of a syringoma. Some ducts were slightly dilated with squamous metaplasia. Some of these cysts were connected with the overlying epidermis. Mitotic figures were rare and no pleomorfism or hyperchromasia was observed. At the periphery, the ducts invaded muscular fibers of the nipple. The surgical margins were free of neoplastic involvement. Patient has no signs of progression of disease in 1 year of follow-up.
Assuntos
Adenoma/cirurgia , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Mamilos/patologia , Siringoma/cirurgia , Adenoma/diagnóstico por imagem , Adenoma/patologia , Adulto , Neoplasias da Mama/diagnóstico por imagem , Feminino , Humanos , Mamilos/cirurgia , Siringoma/diagnóstico por imagem , Siringoma/patologia , Resultado do Tratamento , UltrassonografiaRESUMO
BACKGROUND: Mesenchymal chondrosarcoma (MC) is a subtype of chondrosarcoma, with an incidence varying from 1 to 8% of all chondrosarcomas. It is an aggressive neoplasm with a high tendency for late recurrence and occasional delayed distant metastasis. Orbital MC is very rare, and only approximately 30 cases have been described in the literature. We describe here one case of primary orbital MC. CASE REPORT: A 14-year-old boy without a past medical history presented with a 1-month history of progressive proptosis on the right eye. Computed tomography (CT) scans of the orbit revealed a right intraconic lesion, with areas of calcification. The lesion was excised. Histopathological analysis revealed that the tumor had a biphasic pattern, showing a combination of small cell malignancy and well-differentiated cartilage. Immunohistochemistry examination revealed a diffuse membrane expression of CD99 on the small cell malignancy; S-100 was positive only within the cartilage component. The patient received chemotherapy, and no metastatic disease was found at the 2-month follow-up. CONCLUSION: Although rare, MC should be considered in the differential diagnosis of a well-circumscribed orbital lesion in young adults, especially when CT scans reveal areas of calcification within the tumor.
Assuntos
Condrossarcoma Mesenquimal/diagnóstico , Neoplasias Orbitárias/diagnóstico , Antígeno 12E7 , Adolescente , Antígenos CD/análise , Antígenos CD/biossíntese , Calcinose/diagnóstico , Cartilagem/metabolismo , Cartilagem/patologia , Moléculas de Adesão Celular/análise , Moléculas de Adesão Celular/biossíntese , Condrossarcoma Mesenquimal/metabolismo , Condrossarcoma Mesenquimal/patologia , Condrossarcoma Mesenquimal/terapia , Diagnóstico Diferencial , Tratamento Farmacológico , Humanos , Imuno-Histoquímica , Masculino , Células-Tronco Mesenquimais/metabolismo , Células-Tronco Mesenquimais/patologia , Neoplasias Orbitárias/metabolismo , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/terapia , Proteínas S100/análise , Proteínas S100/biossíntese , Tomografia Computadorizada por Raios X , Resultado do TratamentoRESUMO
BACKGROUND: Uveal melanoma (UM) is the most common primary intraocular malignant tumor in adults, and nearly 40% of UM will develop metastasis that will ultimately lead to death. The Epithelial Cell Adhesion Molecule (EpCAM) is a type I transmembrane glycoprotein expressed by carcinomas of head and neck, ovary, colon, breast, kidney and lung. Recently, antibodies against EpCAM such as Edrecolomab and Catumaxomab were developed, and clinical trials with these antibodies have been used in several types of neoplasia. We studied the expression of EpCAM in UM. METHODS: 25 enucleated formalin-fixed, paraffin-embedded UM specimens were immunostained for EpCAM. Histopathological analysis of the specimens with regards to prognostic factors such as cell type, largest (linear) tumor dimension, number of mitotic figures, scleral invasion and tumor infiltrating lymphocytes were done. RESULTS: None of them was positive for this EpCAM. CONCLUSION: In our report, UM did not express EpCAM. Therefore, it is not a helpful immunohistochemical marker to predict the behavior of UM. Further studies are needed to verify if EpCAM could also be related with prognosis and treatment of UM.
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Three histologically confirmed minimal deviation endometrioid adenocarcinomas (MDEA) of the uterine cervix with cytologic evaluation by cervical scraping were reviewed. The smears were cellular and showed tall columnar tumor cells arranged in monolayered sheets with nuclei in palisade at free borders, rosettes, and irregular clusters. Cellular strips with palisading nuclei was noted in one case. The individual tumor cells showed monomorphic, round or oval, hyperchromatic nuclei with chromatin clumping, small nucleoli, and granular, nonvacuolated cytoplasm with cytoplasmic extensions or tails. The smear background showed a variable amount of necrotic debris admixed with polymorphonuclear leukocytes in two cases. The cytologic manifestations of those three cervical MDEAs overlapped, to some extents, with those of a cervical adenocarcinoma in situ and with those of a well-differentiated endometrial adenocarcinoma invading the cervix.
Assuntos
Carcinoma Endometrioide/patologia , Neoplasias do Colo do Útero/patologia , Adulto , Feminino , HumanosRESUMO
Fine-needle aspirates from two histologically, immunohistochemically, and ultrastructurally confirmed mammary myofibroblastomas (MM) of two elderly women revealed abundant, randomly arranged single and clustered benign spindle-shaped mesenchymal cells with scant cytoplasm and elongated or oval nuclei displaying a finely granular chromatin pattern and inconspicuous nucleoli. In one case a few cells showed inconspicuous nuclear grooves. The aspirated tumor cells from the other case stained positively with desmin and CD34 antibodies and negatively with cytokeratin and S-100 protein antibodies, in keeping with an MM. A review of the literature was briefly presented.
Assuntos
Neoplasias da Mama/patologia , Neoplasias de Tecido Muscular/patologia , Idoso , Antígenos CD34/análise , Biópsia por Agulha Fina , Citodiagnóstico , Desmina/análise , Feminino , Humanos , Pessoa de Meia-Idade , Proteínas de Neoplasias/análise , Proteínas S100/análiseAssuntos
Adalimumab/efeitos adversos , Doença de Crohn/tratamento farmacológico , Vasculite Leucocitoclástica Cutânea/induzido quimicamente , Adulto , Feminino , Glucocorticoides/administração & dosagem , Humanos , Pele/patologia , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Vasculite Leucocitoclástica Cutânea/tratamento farmacológicoRESUMO
We report a 47 year-old man from the State of Mato Grosso do Sul, Brazil, with unifocal tibial paracoccidioidomycosis. A radiograph showed an osteolytic lesion on the tibial middle third diaphysis. The diagnosis was confirmed by histopathologic analysis, and treatment with sulfamethoxazole and trimethoprim was started. After three months, the patient showed significant clinical improvement. Ten months after treatment, the patient showed lesion bone healing. This case describes the rare occurrence of an osteolytic lesion caused by endemic Paracoccidioides brasiliensis in Latin America.
Assuntos
Doenças Ósseas Infecciosas/microbiologia , Paracoccidioides/patogenicidade , Paracoccidioidomicose/diagnóstico por imagem , Paracoccidioidomicose/epidemiologia , Tíbia/microbiologia , Brasil/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Paracoccidioidomicose/tratamento farmacológico , Radiografia , Tíbia/patologia , Resultado do TratamentoRESUMO
PURPOSE: To determine the effects of end-to-side nerve repair performed only with fibrin glue containing nerve growth in rats. METHODS: Seventy two Wistar rats were divided into six equal groups: group A was not submitted to nerve section; group B was submitted to nerve fibular section only. The others groups had the nerve fibular sectioned and then repaired in the lateral surface of an intact tibial nerve, with different procedures: group C: ETS with sutures; group D: ETS with sutures and NGF; group E: ETS with FG only; group F: ETS with FG containing NGF. The motor function was accompanied and the tibial muscle mass, the number and diameter of muscular fibers and regenerated axons were measured. RESULTS: All the analyzed variables did not show any differences among the four operated groups (p>0.05), which were statistically superior to group B (p<0.05), but inferior to group A (p>0.05). CONCLUSION: The end-to-side nerve repair presented the same recovery pattern, independent from the repair used, showing that the addition of nerve growth factor in fibrin glue was not enough for the results potentiating.
Assuntos
Adesivo Tecidual de Fibrina/uso terapêutico , Fator de Crescimento Neural/uso terapêutico , Regeneração Nervosa/efeitos dos fármacos , Nervo Fibular/efeitos dos fármacos , Adesivos Teciduais/uso terapêutico , Anastomose Cirúrgica/métodos , Animais , Masculino , Terminações Nervosas/efeitos dos fármacos , Terminações Nervosas/fisiologia , Regeneração Nervosa/fisiologia , Nervo Fibular/lesões , Ratos , Ratos WistarAssuntos
Carcinoma Papilar/patologia , Neoplasias da Glândula Tireoide/patologia , Adolescente , Adulto , Biópsia por Agulha Fina , Carcinoma Papilar/classificação , Carcinoma Papilar/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Esclerose , Neoplasias da Glândula Tireoide/classificação , Neoplasias da Glândula Tireoide/diagnósticoRESUMO
Melanocytoma is a rare intraocular tumor. There are some reports in the literature dealing with primary melanocytomas of the choroid and ciliary body. It is believed that most of these tumors are clinically diagnosed as nevi or melanoma, and are followed up or treated without surgical resection, respectively. Some clinical features can give a clue as to the correct diagnosis. We report on a 47-year-old white female with progressive visual loss of 2 months and right painful eye. Her visual acuity of finger counting was confined to 3.0m OD and 20/20 OS. Biomicroscopy OD showed a 360 degrees posterior synechia, and fundoscopy was not conclusive due to vitreous opacity. No alterations were seen on OS. Intraocular pressure was normal, and the pupillary reflex was present in both eyes. An ultrasound of the OD showed an elevated tumor on topography of the ciliary body and anterior choroid at the ora serrata level. Melanoma was the main diagnosis considered, and enucleation was indicated due to poor prognosis for visual acuity. Gross and histopathologic examinations of the OD showed a heavily pigmented tumor. The brownish pigment obscured the morphology of the tumor cells that could not be visualized by conventional H&E stain. Bleached slides showed that tumor was composed of melanocytoma cells type I.
Assuntos
Neoplasias da Coroide/patologia , Corpo Ciliar/patologia , Melanoma/patologia , Nevo/patologia , Neoplasias Uveais/patologia , Neoplasias da Coroide/cirurgia , Corpo Ciliar/cirurgia , Diagnóstico Diferencial , Enucleação Ocular , Feminino , Humanos , Pessoa de Meia-Idade , Nevo/cirurgia , Neoplasias Uveais/cirurgiaRESUMO
BACKGROUND: Macular and lichen amyloidosis are clinical variants of primary localized cutaneous amyloidosis (PLCA). Most cases are sporadic, but approximately 10% of cases may be familial. To our knowledge, the clinicopathologic and molecular features of such pedigrees, however, have not been studied in detail. OBSERVATIONS: We assessed 2 Brazilian families with either lichen-type (family 1 had 14 affected subjects) or macular-type (family 2 had 7 affected subjects) PLCA. Typically, in both pedigrees, the onset of symptoms was around puberty, and pruritus usually began on the lower legs. Findings from lesional skin biopsy samples from both families showed thioflavin T-positive material in the papillary dermis, which was more prominent in the lichen phenotype in family 1. Spontaneous improvement occurred in 3 subjects (from both families) after age 25 years. All affected individuals in family 1 had a heterozygous missense mutation in the OSMR gene (p.I691T), but no pathogenic mutation in OSMR was found in family 2. CONCLUSIONS: Familial PLCA shows autosomal dominant inheritance, but there is clinical and genetic heterogeneity and variable clinical penetrance. Demonstration of mutations in the OSMR gene provides new insight into mechanisms of itch and apoptosis in human skin.
Assuntos
Amiloidose Familiar/genética , Amiloidose Familiar/patologia , Predisposição Genética para Doença/epidemiologia , Dermatopatias/genética , Dermatopatias/patologia , Adolescente , Adulto , Biópsia por Agulha , Brasil/epidemiologia , Feminino , Seguimentos , Humanos , Imuno-Histoquímica , Incidência , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Linhagem , Fotografação , Índice de Gravidade de Doença , Adulto JovemRESUMO
PURPOSE: To examine the applicability of an immunohistochemical panel of seven monoclonal antibodies to identify the primary site of poorly differentiated orbital metastatic carcinomas. MATERIAL AND METHODS: Immunohistochemistry was performed to detect cytokeratin (CK) 7, CK20, thyroid transcription factor-1 (TTF-1), BRST1, BRST2, carcinoembryonic antigen (CEA) and prostate-specific antigen (PSA) in seven cases of poorly differentiated orbital metastases. Of the seven cases, four were female and three male. The youngest patient was thirty-six while the oldest was eighty-eight years of age. RESULTS: The immunohistochemical panel alone was helpful to identify the primary source of the metastatic lesion in three out of the seven cases. Two of them were metastatic breast carcinomas (BRST1, BRST2 positive) and one was a prostate carcinoma (PSA positive). By correlating the immunohistochemical results with the previous clinical history, the primary site could be identified in two more cases. In those metastatic lesions, the positive staining for CK7, CK20, and CEA, associated with negative staining for BRST1, BRST2, PSA and TTF-1, indicated bladder as the probable primary site. In two out of seven cases, the metastatic tumor was only positive for CEA, therefore a primary site could not be identified. CONCLUSIONS: An immunohistochemical panel of poorly differentiated orbital metastases is helpful in the identification of the primary tumor site. The association of seven markers with the patient's clinical history allowed for the positive identification of the primary tumor in the majority of these cases.
Assuntos
Biomarcadores Tumorais/análise , Carcinoma/metabolismo , Imuno-Histoquímica/métodos , Neoplasias Orbitárias/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma/secundário , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica , Neoplasias Orbitárias/secundárioRESUMO
PURPOSE: To determine the effects of end-to-side nerve repair performed only with fibrin glue containing nerve growth in rats. METHODS: Seventy two Wistar rats were divided into six equal groups: group A was not submitted to nerve section; group B was submitted to nerve fibular section only. The others groups had the nerve fibular sectioned and then repaired in the lateral surface of an intact tibial nerve, with different procedures: group C: ETS with sutures; group D: ETS with sutures and NGF; group E: ETS with FG only; group F: ETS with FG containing NGF. The motor function was accompanied and the tibial muscle mass, the number and diameter of muscular fibers and regenerated axons were measured. RESULTS: All the analyzed variables did not show any differences among the four operated groups (p>0.05), which were statistically superior to group B (p<0.05), but inferior to group A (p>0.05). CONCLUSION: The end-to-side nerve repair presented the same recovery pattern, independent from the repair used, showing that the addition of nerve growth factor in fibrin glue was not enough for the results potentiating.
OBJETIVO: Determinar os efeitos do reparo nervoso término-lateral realizado apenas com cola de fibrina contendo fator de crescimento nervoso em ratos. MÉTODOS: Setenta e dois ratos Wistar foram distribuídos em seis grupos: A - não submetido à secção nervosa; B - secção do nervo fibular (sem reparo); Os outros grupos tiveram o nervo fibular seccionado e então reparado na superfície lateral do nervo tibial intacto, com diferentes procedimentos: C - RNTL com suturas; D - RNTL com suturas e FCN; E - RNTL apenas com CF; F - RNTL com CF contendo FCN. A função motora foi acompanhada e a massa do músculo tibial, o número e o diâmetro das fibras musculares e axônios regenerados foram medidos. RESULTADOS: Não houve diferença entre as variáveis avaliadas nos quatro grupos operados (p>0,05), os quais foram superiores ao grupo B (p<0,05), mas inferiores ao grupo A (p>0,05). CONCLUSÕES: O reparo nervoso término-lateral mostrou o mesmo padrão de recuperação, independente do tipo de reparo utilizado, evidenciando que a adição de fator de crescimento nervoso na cola de fibrina não foi suficiente para a potencialização dos resultados.
Assuntos
Animais , Masculino , Ratos , Adesivo Tecidual de Fibrina/uso terapêutico , Fator de Crescimento Neural/uso terapêutico , Regeneração Nervosa/efeitos dos fármacos , Nervo Fibular/efeitos dos fármacos , Adesivos Teciduais/uso terapêutico , Anastomose Cirúrgica/métodos , Terminações Nervosas/efeitos dos fármacos , Terminações Nervosas/fisiologia , Regeneração Nervosa/fisiologia , Nervo Fibular/lesões , Ratos WistarRESUMO
Os autores relatam um caso de angiomixoma agressivo em paciente do sexo masculino, no cordão espermático. Essa entidade é descrita predominantemente em mulheres adultas, acometendo as regiões perineal, genital e pélvica. Macroscopicamente observou-se massa lobulada, infiltrativa, de limites imprecisos, que microscopicamente era representada por estroma mixóide com células pequenas, fusiformes e/ou estreladas, uniformes, sem figuras de mitose evidentes. Chamou atenção a presença de vasos sangüíneos proeminentes, de variados tamanhos, alguns deles com paredes espessadas. O perfil imuno-histoquímico mostrou positividade focal para desmina e actina de músculo liso (1A4) e negatividade para CD34 e CD68. Muitas neoplasias mixóides, tanto benignas quanto malignas, podem ser confundidas com o angiomixoma agressivo. O diagnóstico diferencial deve ser amplamente estudado, pois essa neoplasia tem caráter infiltrativo, alto índice de recorrência, embora não haja metástases relatadas até o presente momento.
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Eosinophilic cystitis is a rare bladder disorder that was first reported in 1960 and can be diagnosed in children or adults. Its cause is unknown and usually presents with hematuria, supra pubic pain, sysuria and frequency. We have made an extensive literature review and we reported on 2 illustrative cases. The first case was a man presented with hematuria; a computed tomography, shown expansive process with a mass suggesting infiltration of the perivesical tissues. A biopsy was done and the pathological diagnosis was eosinophilic cystitis. The patient was treated with steroids. Later on, he had an episode of hematuria on the left ureteral orifice and a nephrouretectomy showed grade 2 urothelial carcinoma of the ureter. The second case is a child with neurogenic bladder due to myelomeningocele who had a cystostomy since the age of 5 months. Surgery was performed, including partial cystectomy with an ileal neobladder. The anatomopathological diagnosis was eosinophilic cystitis. The different classifications of eosinophilic cystitis were presented and discussed. The diagnosis of this entity can only be made by microscopic examination which shows mucosal edema or fibrosis, a polymorphous infiltrate rich in eosinophils and sometimes replacement of the bladder muscle by fibrotic tissue