RESUMO
OBJECTIVE: To assess the strength of the effect of cardiovascular risk factors on the incidence of giant cell arteritis (GCA) in a general population context. METHOD: Data from the Reykjavik Study (RS), a population-based cohort study focusing on cardiovascular disease, were used. Everyone born in 1907-1935 living in Reykjavik, Iceland, or adjacent communities on 1 December 1967 were invited to participate. Subjects attended a study visit in 1967-1996 and information on cardiovascular risk factors [smoking habits, blood pressure, diabetes, body mass index (BMI), and serum cholesterol] was obtained. All temporal artery biopsies obtained from members of the RS cohort were re-examined by a single pathologist with expertise in vascular pathology. Effects of risk factors on GCA occurrence are expressed as incidence rate ratios (IRRs) with 95% confidence intervals (CIs). RESULTS: Altogether, 19 241 subjects contributed a median of 23.1 (interquartile range 17.6-29.4) years after the age of 50 to this analysis. During 444 126 person-years of follow-up, 194 subjects developed GCA, corresponding to an incidence rate of 43.6 (95% CI 37.8-50.2) per 100 000 person-years. Being overweight or obese were inversely associated with GCA, especially in women [IRRs 0.70 (0.48-1.02) and 0.31 (0.14-0.71), respectively]. There was a weaker association between BMI and incident GCA in men. Smoking was inversely associated with GCA in men [IRR 0.47 (0.27-0.81)], but not in women. CONCLUSIONS: The incidence of GCA in Iceland is very high. High BMI protects against the occurrence of GCA, and smoking may protect against GCA in men.
Assuntos
Doenças Cardiovasculares , Arterite de Células Gigantes , Medição de Risco , Artérias Temporais/patologia , Biópsia/métodos , Biópsia/estatística & dados numéricos , Índice de Massa Corporal , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/epidemiologia , Estudos de Coortes , Diabetes Mellitus/epidemiologia , Feminino , Arterite de Células Gigantes/diagnóstico , Arterite de Células Gigantes/epidemiologia , Humanos , Islândia/epidemiologia , Incidência , Masculino , Pessoa de Meia-Idade , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de Risco , Fatores Sexuais , Fumar/epidemiologiaRESUMO
OBJECTIVES: In a previous cross-sectional study, the authors found a higher rate of TP53 mutation in oral lichen planus (OLP) than in hyperkeratosis. By analysing for TP53 mutations in serial samples from patients on long-term follow-up of their oral lesions, it was hoped to determine if these mutations were related to disease progression. METHODS: Eight patients presenting with lesions diagnosed clinically as oral leukoplakia or lichen planus were followed from 2 to 12 years. Two to five samples of archival biopsy tissue were analysed from each patient by constant denaturant gradient gel electrophoresis for hotspots A, B, C, D and exon 6. RESULTS: Four patients were diagnosed clinically as OLP: two of these were confirmed histopathologically, one was diagnosed as non-specific hyperkeratosis and one as cancer. Four patients had leukoplakia only, with a histopathological diagnosis of hyperkeratosis. Seven patients had TP53 mutations, three of them on repeated occasions. All five patients who developed squamous-cell carcinoma had mutations. Two of them had mutated pre-malignant lesions, and one of these previously had a non-mutated cancer. Three patients had two different primary cancers, only one of them mutated. One patient developed a mutated cancer 5 years after the last mutation-free biopsy. Of the cancer-free patients, a lesion regarded clinically as cancer-suspicious in one case was mutated, in another patient two OLP lesions were mutated, the third had five biopsies taken during 8 years, all non-mutated. CONCLUSIONS: TP53 mutations may occur early or late in the development of oral squamous-cell carcinoma.
Assuntos
Carcinoma de Células Escamosas/genética , Leucoplasia Oral/genética , Líquen Plano Bucal/genética , Neoplasias Bucais/genética , Proteína Supressora de Tumor p53/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Transformação Celular Neoplásica/genética , Análise Mutacional de DNA , Éxons , Feminino , Regulação Neoplásica da Expressão Gênica , Genes p53 , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Mutação , Reação em Cadeia da Polimerase , Lesões Pré-Cancerosas/genética , Estudos RetrospectivosRESUMO
BACKGROUND: Prediction of progression from pre-malignant oral mucosal lesions to malignancy, or recurrence of an existing oral squamous cell carcinoma (OSCC), is an important clinical problem in oral medicine. METHODS: This study presents a follow-up of a study published in 2002. Samples from 54 patients with OSCC, 45 with oral lichen planus (OLP) and 45 with hyperkeratosis (clinically leukoplakia), diagnosed between 1987 and 1996, were analysed for TP53 protein expression and TP53 mutation. Follow-up was 11-17 years for OSCC (mean 13.3), 12-22 years for OLP (mean 15.9) and 12-17 years for hyperkeratosis (mean 14.5). RESULTS: Of the 54 OSCC patients, 28 experienced recurrent disease, 21 died of OSCC, 22 died of other causes. Of the 14 OSCC patients with mutated TP53 (n = 11), the cancer recurred in eight (57%) and in 20/39 (51%) without mutation. Expression of TP53 protein was significantly associated with reduced overall survival. Among OLP patients, nine were TP53-mutated out of 31 tested. One TP53-mutated OLP patient developed OSCC in a different site. Of the hyperkeratosis patients, three were mutated of 22 tested. One hyperkeratosis patient (non-mutated) developed OSCC in the same site. CONCLUSION: TP53 mutations can exist in benign oral mucosal lesions for many years without progression to malignancy. No association was found between TP53 protein expression or TP53 mutation and recurrence of OSCC or disease-related survival. Overall survival was reduced in patients with positive TP53 protein expression.
Assuntos
Carcinoma de Células Escamosas/metabolismo , Leucoplasia Oral/metabolismo , Líquen Plano Bucal/metabolismo , Neoplasias Bucais/metabolismo , Lesões Pré-Cancerosas/metabolismo , Proteína Supressora de Tumor p53/metabolismo , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/patologia , Progressão da Doença , Intervalo Livre de Doença , Feminino , Seguimentos , Regulação Neoplásica da Expressão Gênica , Humanos , Leucoplasia Oral/genética , Leucoplasia Oral/patologia , Líquen Plano Bucal/genética , Líquen Plano Bucal/patologia , Masculino , Pessoa de Meia-Idade , Mucosa Bucal/metabolismo , Neoplasias Bucais/genética , Neoplasias Bucais/mortalidade , Neoplasias Bucais/patologia , Mutação , Lesões Pré-Cancerosas/genética , Análise de Sobrevida , Proteína Supressora de Tumor p53/genéticaRESUMO
End organ ischemia, fragmentation of elastic membranes, and aneurysm formation in patients with giant cell vasculitis results from an inflammation destroying the mural layers of large and medium sized arteries. Although the inflammatory infiltrate extends through all layers of the affected blood vessel, the most pronounced changes involve the intima and the internal elastic lamina. Analysis of the functional profile of tissue infiltrating CD68+ cells demonstrates that different subsets of macrophages can be distinguished. TGFbeta1-expressing CD68+ cells coproduce IL-1beta and IL-6, are negative for inducible nitric oxide synthase (iNOS), and exhibit a strong preference for localization in the adventitia. The adventitial homing of TGFbeta1+ CD68+ cells places them in the vicinity of IFN-gamma secreting CD4+ T cells which also accumulate in the exterior layer of the artery. Conversely, iNOS expressing CD68+ cells are negative for TGFbeta and are almost exclusively found in the intimal layer of the inflamed artery. The intimal-medial junction is the preferred site for 72-kD collagenase expressing CD68+ cells. Thus, TGFbeta1-producing macrophages colocalize with activated CD4+ T cells and home to an area of inflammation which is distant from the site of tissue damage but critical in regulating cellular influx, suggesting that TGFbeta1 functions as a proinflammatory mediator in this disease. iNOS- and 72-kD collagenase-producing macrophages accumulate at the center of pathology implying a role of these products in tissue destruction. These data indicate that the microenvironment controls the topographical arrangement as well as the functional commitment of macrophages.
Assuntos
Movimento Celular , Arterite de Células Gigantes/fisiopatologia , Macrófagos/fisiologia , Antígenos CD/isolamento & purificação , Antígenos de Diferenciação Mielomonocítica/isolamento & purificação , Humanos , Interleucina-1/biossíntese , Metaloendopeptidases/isolamento & purificação , Óxido Nítrico Sintase/isolamento & purificação , Fator de Crescimento Transformador beta/biossíntese , Túnica Íntima/fisiopatologia , Túnica Média/fisiopatologiaRESUMO
Seventy cases of histologically verified intracranial germ cell tumor were reviewed: 43 germinomas, 16 immature teratomas, seven mature teratomas, two embryonal carcinomas, one choriocarcinoma, and one yolk sac tumor. The male-to-female ratio was 2.6:1. The average age was 19 years in patients with germinoma, 11 years in patients with immature teratoma, and 17 years in patients with mature teratoma. Duration of symptoms averaged 19 months for germinoma, three months for immature teratoma, and 11 months for mature teratoma. Sixty-six lesions were located in the midline. Fifty-eight percent of the germinomas arose anterior to the pineal gland, whereas 29% of the immature and 14% of the mature teratomas were located anteriorly. The histologic appearance of the germinomas was indistinguishable from that of the usual testicular seminoma. The immature teratomas contained tissue from all three germ layers and exhibited morphologic features of fetal tissue. Of 14 immature teratomas, seven contained, in addition, foci of other malignant germ cell elements; thus, there were two teratocarcinomas, two lesions with germinoma and immature teratoma, two lesions with extensive rhabdomyoblastic differentiation in an immature teratoma, and one lesion with both germinoma and embryonal carcinoma in addition to immature teratoma. The seven mature teratomas consisted of fully differentiated epithelial and mesenchymal tissues. In 23 cases, immunoperoxidase stains for human chorionic gonadotropin (HCG), alpha-fetoprotein (AFP), and carcino-embryonic antigen (CEA) revealed patterns which, with minor exceptions, were essentially identical to those found in genital germ cell lesions. Survival was longest for patients with germinomas. In classifying germ cell tumors of the central nervous system, the World Health Organization's (WHO) classification of testicular germ cell tumors is preferable to its present classification of intracranial germ cell tumors.
Assuntos
Neoplasias Encefálicas/patologia , Disgerminoma/patologia , Adolescente , Adulto , Neoplasias Encefálicas/análise , Coriocarcinoma/análise , Coriocarcinoma/patologia , Gonadotropina Coriônica/análise , Cisto Dermoide/análise , Cisto Dermoide/patologia , Disgerminoma/análise , Feminino , Histocitoquímica , Humanos , Imunoquímica , Masculino , Mesonefroma/análise , Mesonefroma/patologia , Gravidez , Teratoma/análise , Teratoma/patologiaRESUMO
Abnormalities in the TP53 tumour suppressor gene were evaluated in 106 unselected breast carcinomas and compared to clinical outcome of the disease. Tumours were screened for p53 abnormalities using immunohistochemical staining and polymerase chain reaction-constant denaturant gel electrophoresis (PCR-CDGE) analysis, followed by PCR and direct sequencing. Allelic loss at the TP53 locus was determined with polymorphic markers by comparing normal and tumour DNA. For approximately half of the patients, abnormal p53 protein expression in serum was determined by an ELISA assay. p53 abnormalities, detected as mutations and/or nuclear staining, were found in 37.6 (38/101) of cases. Nuclear staining for p53 protein could be identified in 33.7% of the tumours. Mutations in exons 5-8 were detected in 18.9% of the tumours, and an association was found between mutations and nuclear staining. Allelic loss in the TP53 region on 17p was more frequent in tumours showing changes in the TP53 gene (72.7%) compared to tumours with no mutation (45.8%). Serum levels of p53 antibodies showed no association with either TP53 mutations or nuclear staining. Women with TP53 mutations in their tumours had an elevated risk of dying during the study period (RR (relative risk) = 3.4, P = 0.014). The effects of p53 positive staining were similar (RR = 3.2, P = 0.013). Considering all abnormalities, mutation and/or staining, the relative risk of dying from breast cancer was 3.5 (P = 0.008).
Assuntos
Biomarcadores Tumorais/análise , Neoplasias da Mama/genética , Genes p53/genética , Mutação , Proteínas de Neoplasias/análise , Proteína Supressora de Tumor p53/análise , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/química , Feminino , Seguimentos , Humanos , Técnicas Imunoenzimáticas , Pessoa de Meia-Idade , Prognóstico , Taxa de SobrevidaRESUMO
Clear cell chondrosarcoma of bone, a low-grade malignant tumor, frequently presents diagnostic difficulties. Its clinical, roentgenographic, and pathologic characteristics separate it from conventional chondrosarcoma and, more importantly, from several benign bone tumors with which it is often confused. This report analyzes 47 cases seen at the Mayo Clinic and in consultation. The lesion is more common in males than females (2.6:1) and has a predilection for the end of long bones, particularly the proximal femur. The age range is wide; most patients are in the third and fourth decades of life. Roentgenographically, the lesion most often is purely lytic and slightly expansile, with a sharp margin between the tumor and the adjacent normal bone. Pathologically, clear cells arranged in an indistinct lobular pattern characterize the tumor. Frequently, areas mimicking other primary bone tumors, benign and malignant, are present, often to such an extent as to obscure the true identity of the process. The overall mortality in the present series was 15%. En bloc resection, including a margin of normal bone and soft tissue, appears to be the treatment of choice.
Assuntos
Neoplasias Ósseas/diagnóstico por imagem , Condrossarcoma/diagnóstico por imagem , Adolescente , Adulto , Idoso , Neoplasias Ósseas/patologia , Neoplasias Ósseas/radioterapia , Neoplasias Ósseas/cirurgia , Condrossarcoma/patologia , Condrossarcoma/radioterapia , Condrossarcoma/cirurgia , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , RadiografiaRESUMO
Systemic amyloidosis results from the deposition of insoluble protein fibrils in various organs and tissues. To date, several different proteins have been associated with amyloid fibril formation, including immunoglobulin light chain, serum amyloid A protein, and transthyretin. Recent reports have shown that variant fibrinogen chains can form amyloid in certain kindreds. Hepatic transplantation has previously been reported in the treatment of hereditary amyloidosis associated with variant transthyretin proteins, which are mainly synthesized in the liver. This article reports the first use and long-term follow-up of combined hepatic and renal transplantation in the successful treatment of two patients with hereditary fibrinogen amyloidosis. Both patients experienced sustained improvement in renal function and nutritional status at 61/2 years and 28 months of follow-up, respectively. Orthotopic liver transplantation is effective and potentially curative treatment of hereditary fibrinogen amyloidosis.
Assuntos
Amiloidose Familiar/metabolismo , Amiloidose Familiar/cirurgia , Fibrinogênio/metabolismo , Transplante de Fígado , Saúde da Família , Seguimentos , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Among 80 cases with a clinical diagnosis of primary (unexplained) pulmonary hypertension, 45 (56%) had thromboembolic disease and 22 (28%) had plexogenic arteriopathy; the remaining 13 (16%) had pulmonary veno-occlusive disease, primary medial hypertrophy, primary pulmonary arteritis, or changes consistent with pulmonary venous hypertension. The mean age was 16 years for primary pulmonary arteritis, 21 to 34 years for plexogenic pulmonary arteriopathy, primary medial hypertrophy, and pulmonary veno-occlusive disease, and 41 and 45 years for thromboembolic disease and pulmonary venous hypertension, respectively. In all forms except pulmonary veno-occlusive disease and apparent pulmonary venous hypertension, female patients were involved twice as often as male patients. With the exception of apparent pulmonary venous hypertension, patients with plexogenic pulmonary arteriopathy had the longest survival (63 months). Sudden death, however, occurred most frequently in patients with plexogenic disease (45%) and occurred 2.5 times as often in this group as in patients with thromboembolic disease. Among our 80 cases, the most frequent histopathologic lesions were medial hypertrophy, intimal proliferation and fibrosis, fibrinoid degeneration and necrosis, and thrombosis. Thrombi were commonly observed and may have developed in situ or by embolization; they were often rich in platelets when they occurred in small pulmonary vessels. These histologic features may form the morphologic substrate for elevated pulmonary vascular resistance, and their recognition may provide the rationale for possible intervention with pulmonary vasodilators, anticoagulants, or platelet inhibitors.
Assuntos
Hipertensão Pulmonar/patologia , Adolescente , Adulto , Idoso , Arterite/patologia , Criança , Pré-Escolar , Feminino , Humanos , Hipertensão Pulmonar/classificação , Hipertensão Pulmonar/terapia , Masculino , Microcirculação/patologia , Pessoa de Meia-Idade , Artéria Pulmonar/patologia , Circulação Pulmonar , Veias Pulmonares/patologia , Tromboembolia/patologiaRESUMO
In two patients, hematopoietic cells were found on cytologic study of fine-needle aspirates from the thyroid gland. The cells were thought to have been aspirated from ossified laryngeal tissues and to have no significance for hematologic disorders in these two patients.
Assuntos
Sistema Hematopoético/citologia , Glândula Tireoide/patologia , Idoso , Autopsia , Biópsia por Agulha , Células da Medula Óssea , Feminino , Humanos , Laringe/patologia , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To elucidate the putative arteriopathy associated with alpha 1-antitrypsin (alpha 1-AT) deficiency. DESIGN: We retrospectively studied the frequency of occurrence of fibromuscular dysplasia (FMD) in patients with alpha 1-AT deficiency in whom a postmortem examination had been done during a 10-year period at the Mayo Clinic. MATERIAL AND METHODS: The medical records of all patients in whom an autopsy was done at the Mayo Clinic between 1983 and 1992 were reviewed to identify all those with a diagnosis of alpha 1-AT deficiency or FMD. RESULTS: Arterial FMD was found in 2 of 6 patients with alpha 1-AT deficiency (33.3%; 95% confidence interval, 4.3 to 77.7%) in comparison with 23 of 6,690 patients without alpha 1-AT deficiency (0.3%; 95% confidence interval, 0.2 to 0.5%). In both patients with alpha 1-AT deficiency and FMD, the arterial media was thickened and composed of irregular arrays of muscular and connective tissue fibers in a background of mucoid ground substance. CONCLUSION: These findings provide further evidence for an underlying arteriopathy in patients with alpha 1-AT deficiency and suggest that FMD may be a non-specific disorder.
Assuntos
Displasia Fibromuscular , Artéria Ilíaca , Artéria Renal , Deficiência de alfa 1-Antitripsina , Adulto , Idoso , Feminino , Displasia Fibromuscular/etiologia , Displasia Fibromuscular/metabolismo , Displasia Fibromuscular/patologia , Humanos , Artéria Ilíaca/patologia , Masculino , Pessoa de Meia-Idade , Artéria Renal/patologia , Estudos RetrospectivosRESUMO
OBJECTIVE: To describe the clinical manifestations, imaging findings, and histologic features of extrapulmonary lymphangioleiomyomatosis (LAM) in the tuberous sclerosis complex (TSC). DESIGN: We retrospectively reviewed institutional medical records since 1940 to identify patients with TSC and extrapulmonary LAM. MATERIAL AND METHODS: Of 403 patients with TSC, 3 had pulmonary and extrapulmonary LAM and retroperitoneal lymphangiomatous cysts. The clinical, imaging, and histologic features of these three patients were summarized, including analysis of biopsy specimens by conventional histology, immunohistology, radiolabeled ligand-binding assays, and tissue culture. RESULTS: The three young women had characteristic dermatologic findings of TSC and pulmonary LAM. Two patients were of normal intelligence, and one had a recent history of contraceptive use. All three patients had intra-abdominal lymphangiomatous cysts, uterine LAM, and renal angiomyolipomas. Renal and uterine biopsy specimens demonstrated positive immunostaining for melanoma-related antigens and expression of estrogen and progesterone receptors by ligand-binding assay and immunohistology. Cells cultured from LAM tissue of one of the patients exhibited a mitogenic response to estradiol. CONCLUSION: Clinically significant extrapulmonary LAM is a rare manifestation of TSC and may occur in women with this disease who also have pulmonary LAM. The clinical features of these patients confirm the importance of sex steroids in the development of these lesions. Immunohistochemical findings suggest that LAM and angiomyolipomas have a neuroectodermal origin. The development of lymphangiomatous cysts in these patients is probably due to smooth muscle proliferation in lymph vessels, which can result in lymphatic obstruction.
Assuntos
Neoplasias Abdominais/complicações , Linfangioleiomiomatose/complicações , Linfangioma Cístico/complicações , Esclerose Tuberosa/complicações , Neoplasias Abdominais/etiologia , Neoplasias Abdominais/patologia , Adulto , Feminino , Humanos , Linfangioleiomiomatose/etiologia , Linfangioleiomiomatose/patologia , Linfangioma Cístico/etiologia , Linfangioma Cístico/patologia , Estudos Retrospectivos , Esclerose Tuberosa/etiologia , Esclerose Tuberosa/patologiaRESUMO
The symptoms of progressive dyspnea, hemoptysis, spontaneous pneumothorax, chylous effusions, and cough in conjunction with ventilatory obstruction and abnormal gas exchange in a young woman should prompt the diagnosis of pulmonary lymphangiomyomatosis. Cytosol steroid-receptor assays and postmortem studies were conducted in an extensive investigation of a case of this disease. A biopsy specimen of the lung disclosed evidence of nuclear translocation of [3H]progesterone and the presence of a cytosolic receptor for progesterone, an indication that this disease could be treated effectively with progestin.
Assuntos
Neoplasias Pulmonares/análise , Linfangiomioma/análise , Receptores de Esteroides/análise , Adulto , Citosol/análise , Feminino , Humanos , Neoplasias Pulmonares/patologia , Linfangiomioma/patologia , Transtornos Linfoproliferativos , Receptores de Estrogênio/análise , Receptores de Progesterona/análiseRESUMO
The lower limit of the prevalence of sleep apnea syndrome (SAS) was estimated among women 40 to 59 years old by a two-stage procedure. In the first stage 2,016 questionnaires were mailed. The response rate was 75.6 percent. Daytime sleepiness was reported by 8.2 percent, habitual snoring by 11.2 percent, and intermittent snoring by 21.7 percent. There were altogether 128 women described with systemic hypertension and these women were more than twice as often habitual snorers. Logistic multiple regression analyses showed almost a threefold increase in the predicted prevalence of hypertension among intermittent and habitual snorers compared with nonsnorers in the age group 40 to 49 years old and a 60 percent increase in the 50- to 59-year-old age group. In the second stage, a group of 97 women highly suspected of SAS were selected because of their habitual snoring and daytime sleepiness. Eventually, 35 of these came for night studies and 14 were found to have SAS. Among the 35 women, 12 were hypertensive and nine of these had SAS. We estimated the lower limit of the prevalence of SAS to be 2.5 percent for women 40 to 59 years old. It is concluded that SAS is a relatively common occurrence among women, especially postmenopausal ones, and it is strongly related to hypertension.
Assuntos
Hipertensão/epidemiologia , Síndromes da Apneia do Sono/epidemiologia , Ronco/epidemiologia , Adulto , Peso Corporal , Feminino , Humanos , Islândia/epidemiologia , Menopausa , Pessoa de Meia-Idade , Prevalência , FumarRESUMO
BACKGROUND: During the past few decades, hospital autopsy rates have steadily declined throughout the Western world. This decline is mainly attributed to the introduction of advanced diagnostic techniques. Despite technological developments, discrepancy rates between clinical diagnoses and autopsy findings remain high. Few studies have addressed discrepancy rates exclusively with regard to malignant neoplasms. In the present study, we reviewed the records of 3,118 autopsies performed at Mayo Clinic during a 6-year period (1994-1999) and identified clinically undiagnosed malignancies found at autopsy and clinically diagnosed cancers not confirmed at postmortem examination. MATERIALS AND METHODS: Autopsy protocols, provisional and final anatomic diagnoses, and data from the Mayo Autopsy Pathology Quality Assurance program were reviewed in an attempt to identify discrepancies between clinical diagnoses and autopsy findings regarding malignant neoplasms. RESULTS: In 3,118 autopsies performed at Mayo Clinic between 1994 and 1999, a malignant tumor was identified in 768 cases (25%). In 128 of 3,118 cases (4.1%), the malignancy was not diagnosed clinically. In 14 of 3,118 cases (0.45%), autopsy failed to confirm a clinically diagnosed cancer. A review of the literature is presented. CONCLUSIONS: Autopsy remains an effective tool for the confirmation and refutation of clinical diagnostic findings regarding malignant neoplasms.
Assuntos
Autopsia , Neoplasias/diagnóstico , Neoplasias/patologia , Autopsia/normas , Autopsia/estatística & dados numéricos , Erros de Diagnóstico , Feminino , Humanos , Masculino , Minnesota , Garantia da Qualidade dos Cuidados de SaúdeRESUMO
All malignant primary tumours of the thyroid gland submitted for histological diagnosis in Iceland during the 30 years 1955-1984, and available for review, were typed histologically according to the World Health Organization classification but also taking into account the more recent well recognized follicular variant of papillary carcinoma. A total of 480 thyroid tumours were classified with a female--to male ratio of 2.8 (367 females, 129 males). The age distribution is much what would be expected, the anaplastic type of carcinomas occurring in the elderly while papillary and follicular tumours occur over a much wider age range. The incidence of thyroid carcinomas in Iceland is about 2-3 times higher than in the other Nordic countries. This is largely due to an unusually high incidence of the papillary type of carcinoma. Overall, the papillary carcinoma accounted for 80% of thyroid malignancies. The tumours diagnosed incidentally at autopsy were about 20% of the entire material, and these tumours were only of the differentiated types of thyroid carcinoma. Even if the incidentally diagnosed tumours are excluded, the percentage of papillary tumours is 77% which is unusually high. The papillary type of carcinomas occasionally occurred in familial clusters in Iceland but not sufficiently to account for the unusually high incidence. Some of the possible etiological factors are discussed.
Assuntos
Carcinoma/epidemiologia , Neoplasias da Glândula Tireoide/epidemiologia , Fatores Etários , Carcinoma/classificação , Humanos , Islândia , Fatores Sexuais , Neoplasias da Glândula Tireoide/classificaçãoRESUMO
Thirteen ependymomas reported to the Icelandic Cancer Registry during a 32-year period (1955-1986) were histologically reviewed and reclassified according to the WHO Histological Typing of Tumours of the Central Nervous System. The annual incidence rate of ependymoma was 0.20/100.000. Clinical observations and data on biological behaviour and immunohistochemistry are presented. Four tumours were supratentorial, six infratentorial and three intraspinal. There were ten males and three females with a mean age of 32 years (range 2.5-68). The mean postoperative survival of nine surgically treated patients was 35.5 months. Histologically, eight tumours were classical ependymomas, three anaplastic and two myxopapillary. Of 11 tumours stained for GFAP, nine were positive. Nine of 10 tumours tested were positive for vimentin, five for NSE and four for S-100. None of the 10 tumours showed reactivity with AFP, CEA, chromogranin, desmin, factor VIII, keratin or neurofilament.
Assuntos
Neoplasias Encefálicas/epidemiologia , Ependimoma/epidemiologia , Neoplasias da Medula Espinal/epidemiologia , Fatores Etários , Anticorpos Monoclonais , Neoplasias Encefálicas/metabolismo , Neoplasias Encefálicas/patologia , Ependimoma/metabolismo , Ependimoma/patologia , Feminino , Proteína Glial Fibrilar Ácida/metabolismo , Humanos , Islândia , Masculino , Glicoproteínas de Membrana/metabolismo , Mucina-1 , Fosfopiruvato Hidratase/metabolismo , Sistema de Registros , Proteínas S100/metabolismo , Fatores Sexuais , Neoplasias da Medula Espinal/metabolismo , Neoplasias da Medula Espinal/patologia , Vimentina/metabolismoRESUMO
CA-125 is a high molecular weight glycoprotein that is best known as a tumour marker for ovarian carcinoma but has been found to be present on various epithelial surfaces including normal tissues. Elevated serum levels of CA-125 have been described in malignancies other than ovarian carcinoma as well as in inflammatory conditions. The expression of CA-125 was studied in paraffin-embedded tissue from 48 mammary carcinomas and 11 samples of normal mammary gland using two monoclonal antibodies, M2 and M11. CA-125 was detected in all normal tissue samples and 64% of the breast carcinomas. Eight of the thirty CA-125-positive carcinomas reacted with only one of the antibodies, indicating molecular change. In normal mammary tissue, CA-125 was seen on apical surfaces and in ductal contents, whilst the majority of the carcinomas (90%) expressed CA-125 in cytoplasmic granules, often showing membranous staining as well. In 16 samples of lymph node metastases CA-125 expression was similar to that seen in the primary tumour. Elevated serum levels of CA-125 were detected in only 3 out of 41 samples available from this patient group. No significant associations were detected with various clinical parameters. We conclude that CA-125 is normally expressed in the mammary gland and that the expression is frequently altered and sometimes absent in mammary carcinoma, possibly reflecting the loss of cellular polarity. Measuring serum levels of CA-125 is not relevant in breast carcinoma patients since one third of breast carcinomas were CA-125 negative and even patients with strongly CA-125-positive tumors had undetectable CA-125 serum levels.
Assuntos
Neoplasias da Mama/metabolismo , Antígeno Ca-125/biossíntese , Carcinoma/metabolismo , Neoplasias da Mama/patologia , Carcinoma/patologia , Feminino , Humanos , Imuno-HistoquímicaRESUMO
Preoperative cytologic examinations were performed on bronchial material from 92 patients with postsurgical (pathologic) stage I (American Joint Committee) adenocarcinoma of the lung. All patients were followed up for at least 5 years or until death; thus, cases of adenocarcinoma metastatic to the lungs were virtually excluded. Only 22 patients (24%) had abnormal preoperative cytologic findings. This low cytologic sensitivity is ascribed to the small size and peripheral location of the tumors. Large lesions of high histologic grades were more likely to have positive preoperative cytologic findings than small, well-differentiated ones.
Assuntos
Adenocarcinoma/patologia , Neoplasias Pulmonares/patologia , Adenocarcinoma/mortalidade , Humanos , Neoplasias Pulmonares/mortalidade , Escarro/citologiaRESUMO
Several clinical and environmental conditions are causally related to sudden death from acute pulmonary thromboembolism (APT). Morbid obesity, despite its frequency and association with adverse health effects, is usually considered at most only an additive risk factor for APT. We reviewed protocols and histories from 7227 consecutive autopsies performed between 1985 and 1996 at the Mayo Clinic, including all deaths from APT where no clinical or environmental risk factor could be identified in the study. Body mass indices (BMI) were calculated and compared with those of age- and sex-matched controls who had died suddenly and naturally without evidence of APT. Resistance to activated protein C is the most common molecular clotting defect predisposing to APT, and it is caused by a point mutation in the factor V gene (R506Q). Genomic DNA was extracted from archival tissues of all cases and controls, and the R506Q status was determined by polymerase chain reaction amplification, restriction endonuclease digestion, and direct sequencing. APT was found as the immediate cause of death in 433 patients, with 36 (8%) having no previously established risk factors. Twenty-four of these persons (67%) were morbidly obese (BMI >30 kg/m2). compared with only five controls (14%, P<0.0001). Four patients in both groups, each with a BMI <30 kg/m2. had at least one allele positive for R506Q. Morbid obesity is an independent risk factor in cases of sudden death from APT after the exclusion of previously established clinical, environmental, and molecular risk factors.