RESUMO
The QM protein is a transcription cofactor inhibiting the activity of AP-1 transcription factors and is also a ribosomal protein participating in protein synthesis. While protein synthesis is known to be increased in many cancers, inhibition of AP-1 activity presumably suppresses development and growth of sex-hormone-regulated tumor cells. The present study is the first report on immunohistochemical data of QM in human prostatic tissues. Paraffin sections of human prostate cancer samples were immunohistochemically stained for QM. The staining scores were analyzed with the clinicopathologic data of the patients. QM protein expression was found in all normal prostate glands adjacent to prostate cancer and in various intraepithelial neoplasia (PIN). In prostate cancer, the staining intensity and stained areas were decreased, compared to the normal glands and PIN lesions; in high-grade tumors only some patches of tumor cells showed positivity. Intense (3+) staining was mostly observed in the Gleason grade three areas (48%) compared to grade 4 and 5 areas (22%), although both low and high-grade tumors showed similar percentages of weakly stained areas. Moreover, staining in prostatic adenocarcinoma was often topographically patchy and varied from negative or weak (1+) to intense (3+). There was an inverse correlation from normal to low-grade tumors and then to high-grade tumors. However, in high-grade tumors, the positive areas were mostly confined to peripheral aspects of tumors and were particularly strong in foci of perineural invasion. This preliminary study suggests that decreased QM expression may be associated with early development of prostate cancer, but later a high level of QM may facilitate progression of the tumors to a more aggressive phenotype.
Assuntos
Adenocarcinoma/metabolismo , Neoplasia Prostática Intraepitelial/metabolismo , Neoplasias da Próstata/metabolismo , Proteínas Ribossômicas/metabolismo , Proteínas Supressoras de Tumor/metabolismo , Adenocarcinoma/patologia , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Neoplasia Prostática Intraepitelial/patologia , Neoplasias da Próstata/patologia , Proteína Ribossômica L10RESUMO
Renal cell carcinomas (RCCs) are rare in children and studies of their subtypes and clinicopathologic associations are limited to small series. We identified 8 patients with RCC treated at our institution between 1981 and 2003, reviewed their clinicopathologic features, cytogenetics findings, and evaluated the status of TFE3 expression by immunohistochemistry and numerical chromosomal alterations by interphase fluorescent in situ hybridization on paraffin-embedded tissue. These 8 patients (5 female and 3 male) had diploidy, and 5 had morphologic features compatible with the recently described RCC associated with Xp11.2 translocations/TFE3 gene fusions and demonstrated nuclear labeling for TFE3 protein by immunohistochemistry. The translocation was confirmed in 2 of these 5 patients by conventional cytogenetics. One case was a high-grade nonpapillary RCC and the other was compatible with type 2 papillary RCC. Four patients showed at least 1 chromosomal gain including trisomy 7 and/or trisomy 17. None of the tumors from male patients showed evidence of loss of the Y chromosome, but 2 patients showed numerical abnormalities of X chromosome +add(X). Two patients had sickle cell disease, and 1 of these also had stage IV-S neuroblastoma. This study suggests that many cases of RCC in children reported under the terms "papillary" and "clear cell" likely represent Xp11.2 translocation/TFE3 gene fusion-associated RCC. It also emphasizes the unusual associations of RCC with neuroblastoma and sickle cell hemoglobinopathy, which need further study.
Assuntos
Fusão Gênica Artificial , Carcinoma de Células Renais/genética , Cromossomos Humanos Par 11 , Cromossomos Humanos X , Proteínas de Ligação a DNA/genética , Neoplasias Renais/genética , Fatores de Transcrição/genética , Translocação Genética , Adolescente , Anemia Falciforme/complicações , Anemia Falciforme/genética , Anemia Falciforme/patologia , Fatores de Transcrição de Zíper de Leucina e Hélice-Alça-Hélix Básicos , Carcinoma de Células Renais/metabolismo , Carcinoma de Células Renais/patologia , Carcinoma de Células Renais/terapia , Núcleo Celular/genética , Núcleo Celular/patologia , Criança , Pré-Escolar , Coloração Cromossômica , Terapia Combinada , Proteínas de Ligação a DNA/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Lactente , Cariotipagem , Neoplasias Renais/metabolismo , Neoplasias Renais/patologia , Neoplasias Renais/terapia , Masculino , Neoplasias Primárias Múltiplas , Ploidias , Fatores de Transcrição/metabolismo , Resultado do Tratamento , Tumor de Wilms/genética , Tumor de Wilms/patologiaRESUMO
Familial intestinal polyatresia (FIPA) is a rare autosomal recessive disorder. In this article we present a new prenatally diagnosed case with FIPA from consanguineous parents with two affected daughters. The fourth pregnancy was diagnosed prenatally with FIPA at 18 weeks sonographically and these findings were confirmed by postmortem examination.
Assuntos
Atresia Intestinal/diagnóstico por imagem , Ultrassonografia Pré-Natal , Aborto Induzido , Consanguinidade , Feminino , Humanos , Atresia Intestinal/patologia , Gravidez , TurquiaAssuntos
Cisto Epidérmico/diagnóstico , Doenças da Boca/diagnóstico , Soalho Bucal , Criança , Diagnóstico Diferencial , Cisto Epidérmico/patologia , Cisto Epidérmico/cirurgia , Feminino , Humanos , Doenças da Boca/patologia , Doenças da Boca/cirurgia , Soalho Bucal/patologia , Soalho Bucal/cirurgiaAssuntos
Infecções por Citomegalovirus/complicações , Citomegalovirus/isolamento & purificação , Hidropisia Fetal/diagnóstico , Complicações Infecciosas na Gravidez , Diagnóstico Pré-Natal , Adulto , Citomegalovirus/genética , DNA Viral/isolamento & purificação , Feminino , Humanos , Hidropisia Fetal/etiologia , GravidezRESUMO
Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20-22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism.
Assuntos
Defeitos do Tubo Neural/diagnóstico por imagem , Ultrassonografia Pré-Natal , Aborto Induzido , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Defeitos do Tubo Neural/genética , Defeitos do Tubo Neural/patologia , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Gravidez , Segundo Trimestre da GravidezRESUMO
Sixteen 1-(1-naphthyloxy)acetyl-4-substituted-3-thiosemicarbazides, 2-substituted amino-5-(1-naphthyloxy)methyl-1,3,4-oxadiazoles, 2-substitutedamino-5-(1-naphthyloxy) methyl-1,3,4-thiadiazoles and 3-(1-naphthyloxy)methyl-4-substituted-1,2,4-triazole-5-thiones were synthesized. The structures of the compounds have been elucidated by UV, IR, 1H-NMR, 13C-NMR spectra and elemental analysis. The anti-inflammatory activities of the compounds were evaluated by carregeenan induced hind paw edema and air-pouch inflammation tests in mice. In carrageenan induced hind paw edema test, compounds 1a, 1d, 3d, 4a showed equivalent or higher activity compared to naproxen and phenylbutazone. In the air-pouch inflammatory model, compounds 1a, 1b, 1d, 2c, 3c, 3d, 4a and 4d showed marked anti-inflammatory activity. The ED50 values of these compounds ranged between 24-36 mg/kg. Side effects of the compounds on gastrointestinal system and kidneys were examined and none of the compound showed significant side effects.
Assuntos
Anti-Inflamatórios não Esteroides/síntese química , Anti-Inflamatórios não Esteroides/farmacologia , Azidas/síntese química , Azidas/farmacologia , Oxidiazóis/síntese química , Oxidiazóis/farmacologia , Tiadiazóis/síntese química , Tiadiazóis/farmacologia , Triazóis/síntese química , Triazóis/farmacologia , Ar , Animais , Carragenina , Cristalização , Edema/induzido quimicamente , Edema/patologia , Edema/prevenção & controle , Pé/patologia , Masculino , Camundongos , Espectrofotometria UltravioletaRESUMO
Analysis of 10 cases of Non-Hodgkin's lymphoma with initial manifestation in the ovaries is presented with the histologic and immunohistochemical findings.
Assuntos
Linfoma não Hodgkin/patologia , Neoplasias Ovarianas/patologia , Adolescente , Adulto , Tubas Uterinas/cirurgia , Feminino , Humanos , Histerectomia , Imuno-Histoquímica , Imunofenotipagem , Antígenos Comuns de Leucócito/análise , Excisão de Linfonodo , Linfócitos/imunologia , Linfoma não Hodgkin/química , Linfoma não Hodgkin/cirurgia , Pessoa de Meia-Idade , Metástase Neoplásica , Neoplasias Ovarianas/química , Neoplasias Ovarianas/cirurgia , Ovariectomia , Vimentina/análiseRESUMO
The aim of this study was to underline the frequently seen problems in diagnosing the lesions seen in the hyperplasia-carcinoma sequence by evaluating the variances between the observers. Four pathologists re-evaluated 137 endometrial biopsies and grouped them into diagnostic categories. The results were analyzed by Kappa statistics. Full agreement was reached in 89 cases (64.96%), with Kappa values ranging between 0.63-0.74. Three observers rendered the same diagnosis in 34 (24.81%) cases, and only one pathologist disagreed. Two or more observers held different views in 16 cases (10.95%). The problem areas were as follows: criteria distinguishing simple hyperplasia from other benign lesions, discrimination between atypical hyperplasia and carcinoma, and decision-making regarding the presence of atypia. There was a tendency towards overdiagnosis of hyperplasia in our department. Since the progression to carcinoma is a sequential event, borderline cases will exist if categories based on simple and clear cut off points are not defined.
Assuntos
Adenocarcinoma/patologia , Erros de Diagnóstico/estatística & dados numéricos , Hiperplasia Endometrial/patologia , Neoplasias do Endométrio/patologia , Garantia da Qualidade dos Cuidados de Saúde , Adulto , Idoso , Biópsia , Feminino , Humanos , Pessoa de Meia-Idade , Variações Dependentes do Observador , Reprodutibilidade dos TestesRESUMO
Disseminated peritoneal leiomyomatosis (DPL) is a rare entity, occurring primarily in premenopausal women. The lesion is characterized by numerous subperitoneal nodules of benign smooth muscle proliferations which usually mimics the macroscopic appearance of the peritoneal carcinomatosis. We report a case of DPL and multiple uterine leiomyomas, occurring in a 50 year old premenopausal woman who was on oral contraceptives for the last three years. In order to diagnose this entity clinicians and pathologists have to be alert and collaborative during the intraoperative frozen section consultation.
Assuntos
Carcinoma/diagnóstico , Leiomiomatose/diagnóstico , Neoplasias Peritoneais/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Leiomiomatose/patologia , Leiomiomatose/cirurgia , Pessoa de Meia-Idade , Neoplasias Peritoneais/patologia , Neoplasias Peritoneais/cirurgiaRESUMO
Recently we described a previously apparently undescribed autosomal recessive syndrome in two sib fetuses with situs inversus totalis, cystic dysplastic kidneys and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. This syndrome differs from that of Ivemark and related syndromes due to lack of liver involvement. After these two sibs, this consanguineous family had a third child and an early prenatal diagnosis of pancreatic and dysplastic renal cysts was made in the 19.5-week-old fetus. The last case supports the genetic hypothesis.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Cistos/diagnóstico por imagem , Rim/patologia , Pâncreas/diagnóstico por imagem , Situs Inversus/diagnóstico por imagem , Ultrassonografia Pré-Natal , Feminino , Humanos , Rim/citologia , Pâncreas/patologia , Gravidez , SíndromeRESUMO
In this study, the synthesis of some new 2-thioxo-1,2,3,4-tetrahydropyrimidines and their condensed derivatives, thiazolo[3,2-a]pyrimidines, are described. The structures of the compounds were confirmed by 1R, 1H-NMR, 13C-NMR, and mass spectroscopy. The direct high-performance liquid chromatographic separation of the compounds on derivatized cellulose chiral stationary phases such as cellulose tris(3,5-dimethylphenylcarbamate) (OD), cellulose tris(4-methylphenylcarbamate) (OG), and cellulose tris(4-methylbenzoate) (OJ) was studied. All of the compounds were screened for their antiinflammatory activity and also investigated histopathologically. Compounds 3 and 1a were found to be the most promising antiinflammatory agents in this group.
Assuntos
Anti-Inflamatórios não Esteroides/síntese química , Pirimidinas/síntese química , Animais , Anti-Inflamatórios não Esteroides/química , Anti-Inflamatórios não Esteroides/farmacologia , Anti-Inflamatórios não Esteroides/toxicidade , Carragenina , Edema/induzido quimicamente , Edema/patologia , Edema/prevenção & controle , Feminino , Masculino , Camundongos , Pirimidinas/química , Pirimidinas/farmacologia , Pirimidinas/toxicidade , EstereoisomerismoRESUMO
A case of an unusual lymphoma type, CD56 (+) T/NK lymphoma, presenting as a testicular tumor is described. A 35 year old man who presented with right testicular swelling, underwent right inguinal orchiectomy, with a presumptive diagnosis of abscess or malignancy. Histopathology showed a diffuse mixed large and small cell lymphoma with a focal angiocentric growth pattern. Immunohistochemically CD45RO and CD56 were found to be positive in the neoplastic cells. In situ hybridization assay for EBV showed the presence of EBV related small ribonucleic acid sequences (EBER) within the tumor cells. Despite systemic chemotherapy, the patient had an aggressive clinical course with two skin and left testicular recurrences in the first year of his disease.
Assuntos
Antígeno CD56/análise , Linfoma não Hodgkin/patologia , Neoplasias Testiculares/patologia , Adulto , Humanos , Linfoma não Hodgkin/imunologia , Linfoma não Hodgkin/virologia , Masculino , RNA Viral/análise , Neoplasias Testiculares/imunologia , Neoplasias Testiculares/virologiaRESUMO
Sjögren-Larsson syndrome (SLS) is a rare disorder with autosomal recessive inheritance. Its clinical, pathological, genetic, and biochemical manifestations have been thoroughly evaluated, but there is little imaging data, especially regarding MRI. We present brain MRI of three siblings with SLS and discuss our findings.
Assuntos
Encéfalo/patologia , Imageamento por Ressonância Magnética , Síndrome de Sjogren-Larsson/diagnóstico , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Núcleo Familiar , Síndrome de Sjogren-Larsson/genéticaRESUMO
We describe a 25-week-old female fetus of consanguineous parents with ultrasonographic findings of increased echogenicity of lungs mimicking CAM (cystic adenomatoid malformation) type III, olygohydramnios and fetal ascites. A therapeutic abortion was performed and unilateral cryptophthalmos, laryngeal atresia and bilateral syndactyly of the hands and feet were observed at post-mortem. These findings confirmed the diagnosis of Fraser syndrome after abortion.
Assuntos
Anormalidades Múltiplas/diagnóstico por imagem , Ascite/etiologia , Malformação Adenomatoide Cística Congênita do Pulmão/diagnóstico por imagem , Doenças Fetais/diagnóstico por imagem , Laringe/anormalidades , Oligo-Hidrâmnio/diagnóstico por imagem , Diagnóstico Diferencial , Anormalidades do Olho/diagnóstico por imagem , Feminino , Idade Gestacional , Humanos , Sindactilia/diagnóstico por imagem , Síndrome , Ultrassonografia Pré-NatalRESUMO
A case of intrathyroidal parathyroid adenoma, which was found in the lower portion of the right thyroid lobe, is presented. The nodule in this lesion was composed of oxyphilic cells. In order to verify a possible vascular invasion, immunohistochemical study with Factor VIII-related antigen/von Willebrand factor, which is known to be synthesized by the endothelial cells and stored in Weibel-Palade bodies, and ulex europaeus lectin 1 were applied. It was interesting to find positivity for Factor VIII-related antigen and ulex europaeus lectin I strictly confined in the nodule of oxyphil cells, which are known to have large numbers of mitochondria. This led to investigating similar immunoreactions in different lesions of oxyphilic cells with several other markers. The possible cross-reaction between Weibel-Palade bodies and mitochondria deserves further detailed research.
Assuntos
Adenoma Oxífilo/metabolismo , Neoplasias das Paratireoides/metabolismo , Lectinas de Plantas , Neoplasias da Glândula Tireoide/metabolismo , Fator de von Willebrand/metabolismo , Idoso , Humanos , Imuno-Histoquímica , Lectinas/metabolismo , Masculino , Mitocôndrias/metabolismo , Corpos de Weibel-Palade/metabolismoAssuntos
Doenças Mamárias/patologia , Cartilagem/patologia , Condroma/patologia , Lipoma/patologia , Doenças Mamárias/diagnóstico , Doenças Mamárias/cirurgia , Condroma/diagnóstico , Condroma/cirurgia , Feminino , Humanos , Lipoma/diagnóstico , Lipoma/cirurgia , Mamografia , Metaplasia , Pessoa de Meia-IdadeRESUMO
We describe two sib fetuses with situs inversus, cystic dysplastic kidney and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation (IUGR), and oligohydramnios. Early prenatal diagnosis of pancreatic and dysplastic renal cysts and situs inversus totalis were made in the 18-week-old fetus. This syndrome differs from that of Ivemark and related syndromes because of the presence of situs inversus totalis and absence of hepatic fibrosis and cysts. The parents were first cousins, and did not have any cysts of kidney, liver, or pancreas detected by ultrasonography.
Assuntos
Doenças Renais Císticas/diagnóstico , Rim/anormalidades , Núcleo Familiar , Pâncreas/anormalidades , Cisto Pancreático/diagnóstico , Situs Inversus/diagnóstico , Anormalidades Múltiplas/diagnóstico , Humanos , Doenças Renais Císticas/complicações , Cisto Pancreático/complicações , Diagnóstico Pré-Natal , Situs Inversus/complicações , SíndromeRESUMO
A case of squamous carcinoma of the lung metastatic to a renal oncocytoma is described. The terms "tumor-to-tumor metastasis" and "collision tumor" for describing the existence of two neoplasms in the same location are discussed.