A report of intracranial Rosai-Dorfman disease with literature review.

Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy), is a rare benign histiocytic proliferative disorder. Over 650 cases have been reported since 1969. To the best of our knowledge, there have been only 31 cases with central nervous system involvement reported in the literature. Intracranial disease usually presents clinically and radiologically as a "meningioma". It can be misdiagnosed as a nonspecific inflammatory process because of the atypical histologic features of Rosai-Dorfman disease occurring in a non-nodal location. Familiarity with such atypical histologic features and appropriate use of immunohistochemical stains is required for a definitive diagnosis of central nervous system Rosai-Dorfman disease. We report such an intracranial lesion with other extranodal sites of involvement with a 5-year follow up and a review of previously reported cases. Ann Diagn Pathol 5:96-102, 2001.

Primary synovial sarcoma of the kidney: a case report with literature review.

We describe a case of primary renal synovial sarcoma (SS) in a 48-year-old man. The patient presented with hematuria and was found to have a large tumor in his left kidney on computed tomography scan. Histology revealed a highly cellular spindle cell neoplasm with minimal pleomorphism. The major differential diagnoses included leiomyosarcoma, hemangiopericytoma, and SS. The presence of focal areas with a biphasic pattern, uniformly positive immunostain for bcl-2, focally positive immunostains for epithelial membrane antigen and cytokeratin, and negative immunostains for CD-34, smooth muscle actin and S-100 established the diagnosis. This was subsequently confirmed by molecular testing for t(X;18) translocation. Since the existence of primary SS in the kidney was first suggested in 1999, to the best of our knowledge a total of 19 cases including the present case have been reported to date. Although primary renal SS is rare, these findings indicate that it should be included in the differential diagnosis of spindle cell tumors of the kidney.

A report of mesothelial/monocytic incidental cardiac excrescences and a literature review.

We report the case of a rare cardiac lesion, mesothelial/monocytic incidental cardiac excrescences, and also provide a review of the literature. Diagnosis of this entity was based on both its unique morphologic features and imunohistochemical stains. Cytokeratin positivity confirmed the epithelial component, mesothelial cells, in the lesion. Positive staining of CD68 in the monocytic-appearing cells revealed the histiocytic nature of the second component of this lesion. Differential diagnoses are discussed. This report emphasizes the diagnostic dilemma encountered with this unusual entity and the possibility of misdiagnosing the epithelial portion as a metastatic lesion or vice versa.

Deep juvenile xanthogranuloma: an unusual presentation.

Juvenile xanthogranuloma (JXG) is a disorder of histiocytes usually associated with cutaneous lesions. It may present a diagnostic dilemma in the absence of cutaneous lesions and when deeply located. Differentiation of JXG from other childhood histiocytosis syndromes, especially Langerhans' cell histiocytosis (LCH), is important. We describe an unusual case of deep JXG in a 27-month-old girl with multiple omental and peritoneal nodules presenting with ascites. Although a diagnosis of LCH was suspected clinically, the absence of Birbeck granules and S-100 protein and T6 antigen negativity, together with CD68 and factor XIIIa positivity, led us to a diagnosis of JXG. Physicians should be aware of the widening spectrum of manifestations of juvenile xanthogranuloma.

Periosteal chondrosarcoma: a case report and review of the literature.

Periosteal chondrosarcoma occurs predominantly in the long tubular bones. The long-term survival rate is better and there are fewer local recurrences than with central chondrosarcoma. A case of periosteal chondrosarcoma is reported with a review of the literature. A 13-year-old girl presented with swelling of the distal right thigh of 3 weeks' duration. Radiographs and computed tomographic scan of the lesion showed a soft tissue mass, measuring 6 x 6 cm, with matrix calcification arising from the surface of the bone. An open biopsy followed by en bloc resection of the tumor was performed. The histologic features were those of a chondrosarcoma. An 8-year follow-up period has shown no local recurrence or distant metastases. The differential diagnosis of periosteal chondrosarcoma includes periosteal (chondroblastic) osteosarcoma and periosteal chondroma. Controversy exists as to whether periosteal chondrosarcoma is an entity distinct from periosteal osteosarcoma. The clinicopathologic features in this case and in the cases reported in the literature support the contention that periosteal chondrosarcoma is indeed distinct.

Crystal-storing histiocytosis associated with a lymphoplasmacytic neoplasm mimicking adult rhabdomyoma: a case report and review of the literature.

Massive accumulation of crystals within histiocytes in association with a lymphoplasmacytic neoplasm causing histologic features closely mimicking adult rhabdomyoma is a rare occurrence. We report the case of a 49-year-old man who presented with a left posterior cervical mass. Histologic examination demonstrated sheets of large, elongated, and polygonal cells with prominent eosinophilic cytoplasm surrounding scattered dense lymphoplasmacytic collections. Evidence of the reactive histiocytic nature of the eosinophilic cells was provided by an immunohistochemical reaction that was positive with KP-1 (CD68), but negative with common muscle actin, desmin, and myoglobin. The ultrastructural finding of elongated and rhomboid, membrane-bound, cytoplasmic crystals further supported the reactive histiocytic nature of these cells. B-cell kappa monoclonality of the lymphoplasmacytic component was proven by gene rearrangement studies. A recurrence involving the right parotid gland, 18 months after removal of the cervical mass, confirmed the aggressive nature of this B-cell lymphoma. Misdiagnosis of crystal-storing histiocytosis as adult rhabdomyoma can be avoided if the following features are recognized: lack of cytoplasmic cross striations, frequent multinucleation of the histiocytes, and prominence of the atypical lymphoplasmacytic component.

Ki-67 reactivity in breast carcinoma analyzed by a computer-assisted image system: preliminary results.

The proliferative index of 63 breast carcinomas was measured on Ki-67 immunostained frozen tissue sections with a computer-assisted image analysis system. The mean proliferative index in estrogen-positive breast carcinomas was lower than in estrogen-negative carcinomas. An inverse relationship between proliferative index and short-term disease-free survival was noted.

Dermal and intravascular fasciitis. Unusual variants of nodular fasciitis.

Three cases with characteristic features of nodular (pseudosarcomatous) fasciitis arising in the dermis are described. This is only the second report documenting a dermal location for this condition. One of the three cases also showed features of intravascular fasciitis. A fourth case of intravascular fasciitis arising in periocular tissue is included. The differential diagnosis of dermal fasciitis includes benign fibrous histiocytoma, pyogenic granuloma, peripheral nerve tumors, cutaneous smooth muscle tumours, spindle cell carcinoma, spindle cell melanoma, dermatofibrosarcoma protuberans and atypical fibroxanthoma.

Detection of messenger RNA from O6-methylguanine-DNA methyltransferase gene MGMT in human normal and tumor tissues.

BACKGROUND: The level of the DNA repair protein O6-methylguanine-DNA methyltransferase is an important determinant of the response of tumor cells in culture to alkylating nitrosoureas. In these cells, the abundance of messenger RNA (mRNA) is directly correlated with repair activity. PURPOSE: Our purpose was to compare transferase mRNA levels with the repair activity in primary human tumors. METHODS: Human transferase mRNA was measured in tissue samples from brain tumors, normal lung, lung tumors, ovarian tumors, and normal human liver by use of an RNA protection assay with an antisense probe prepared from the cloned gene. RESULTS: Normal and tumor tissue samples from the same patient had similar transferase activity levels, but transferase expression varied widely among tissue samples from different patients. Brain and lung samples, on average, had transferase mRNA levels closer to those in liver samples than their transferase activity levels. In two cases, tissue samples which were transferase deficient by the activity assays were found to lack transferase mRNA. CONCLUSIONS: Deficiencies in transferase activity are due to reduced or absent mRNA transcription or processing. In brain and lung, there may be post-transcriptional control of mRNA expression. The wide interindividual variation in transferase expression is also seen at the transcription level. IMPLICATIONS: These are among the first measures of transferase mRNA expression in primary human tissue. More samples should be examined to extend these observations.

Cartilage necrosis due to pin penetration: experimental studies in rabbits.

An animal model was used to evaluate the role of pin penetration into the hip joint as the cause of chondrolysis. The gross and microscopic studies, as well as the biochemical studies, showed changes indicating cartilage destruction. These changes were more severe when the pins remained in the joint. Immunologic studies showed some type of immunological interaction. The immunologic response may be initiated by release of cartilage byproducts. The initial insult of the slip may cause release of cartilage byproducts from the exposed growth plate within the joint, and is compounded by penetration of the pin in the hip joint.

O6-methylguanine-DNA methyltransferase in human normal and tumor tissue from brain, lung, and ovary.

The resistance of human tumor strains in culture to cell killing by alkylating nitrosoureas is correlated with their levels of the DNA repair activity O6-methylguanine-DNA methyltransferase. Strains with the Mer- phenotype have no activity and are extremely sensitive. However, the relationship between the sensitivity of human tumors in vivo and transferase levels is not known, and even the existence of Mer- human tumors in vivo has been questioned. In this study 73 human tumor and normal tissue samples from brain, lung, and ovary were assayed for transferase levels and methylpurine glycosylase activity. For each organ, transferase levels varied over 100-fold, and Mer- tumors were detected in each group. There was no correlation between transferase and glycosylase levels, indicating that the absence of transferase in some tumor samples was not an artifact due to necrosis or inactivation of enzymes in the extract.

Microvascular complications of NIDDM in Hispanics and non-Hispanic whites. San Luis Valley Diabetes Study.

The goal of this article was to examine the differences in the rates of microvascular complications of non-insulin-dependent diabetes mellitus (NIDDM) in Hispanic and non-Hispanic white subjects. This was a geographically based case-control study where prevalent cases of NIDDM were identified in medical records. Subjects attended a 4-h clinic to confirm NIDDM diagnosis and assess complication end points. Retinopathy was defined by stereofundus photographs. Distal symmetric neuropathy was determined by standardized clinical examination. Nephropathy was indicated by serum creatinine level, urine protein-creatinine ratio, and urine albumin concentration. This study consisted of 279 NIDDM subjects confirmed by oral glucose tolerance test and World Health Organization criteria aged 20-74 yr (187 Hispanic and 92 non-Hispanic white subjects). Duration-adjusted prevalence of retinopathy was significantly higher in non-Hispanic white subjects (54.1 per 100, 95% confidence interval [CI] 44.4-63.7) than in Hispanics (41.8 per 100, 95% CI 34.8-48.8). This excess occurred only in non-Hispanic white subjects with background retinopathy but not in those with more severe retinopathy. Hispanics and non-Hispanic white subjects did not differ significantly for the prevalence of neuropathy (31.6 per 100 in non-Hispanic white subjects and 26.3 per 100 in Hispanics) or nephropathy by any measure. There were no significant differences in duration of diabetes or mean glycohemoglobin levels between ethnic groups. Microvascular complications of NIDDM are not in excess among Colorado Hispanics, and retinopathy may be somewhat more common in non-Hispanic white people.

Accuracy of reported family history of diabetes mellitus. Results from San Luis Valley Diabetes Study.

There are two possible sources of bias in the assessment of family history of diabetes: 1) a person with diabetes may be more likely to report a diabetic relative than a nondiabetic person would be, and 2) relatives of individuals with diabetes may be more likely to be tested for diabetes than relatives of nondiabetic individuals. We conducted a study on a subsample of families of subjects in the San Luis Valley Diabetes Study to examine these issues. A sample of 5 White and 5 Hispanic subjects (probands) with diabetic glucose tolerance tests and the same number with normal glucose tolerance were selected. The 20 probands all provided contact information on their 227 primary family members. Ninety-two percent of the family members had interviews completed by themselves or, if deceased, by surrogates other than the proband. Family members were asked by telephone if they had ever been tested for diabetes, when they had been most recently tested, why they had been tested, and if they had ever been told they had diabetes. The results showed that study subjects accurately reported family history of diabetes, because there were no discrepancies between proband and family reports. A positive family history of diabetes was associated with increased reported screening in Hispanics, but a similar effect in White families was not seen. Women were also more likely to report being screened than men regardless of whether there was a positive family history of diabetes.(ABSTRACT TRUNCATED AT 250 WORDS)

Sensory neuropathy in non-insulin-dependent diabetes mellitus. The San Luis Valley Diabetes Study.

A screening neurologic examination capable of detecting distal symmetric (sensory) neuropathy in a large population-based study of non-insulin-dependent diabetes mellitus in San Luis Valley, Colorado, in 1984-1986 is described and validated. The examination, completed in 279 diabetics and 577 controls, had 90% agreement with a standard neurologic examination completed on a subsample of 38 patients. Independent validation of neuropathy status was obtained with the Optacon tactile (vibration) stimulator. Mean, age-adjusted vibration threshold was significantly greater in those with neuropathy than in those without. The subtests of the examination most sensitive in detecting neuropathy were a combination of a positive history of neuropathy symptoms and decreased or absent deep tendon reflexes in both ankles. Age-adjusted prevalence of neuropathy in controls, those with impaired glucose tolerance, and diabetics was 3.9%, 11.2%, and 25.8%, respectively. Prevalence odds ratios were 3.5 and 10.6 for the presence of neuropathy in persons with impaired glucose tolerance and diabetes, respectively, compared with persons with normal glucose tolerance. Neuropathy was significantly associated with age, duration of diabetes, male sex, and glycemic control, but not with Anglo/Hispanic status.

Cardiovascular risk factors and impaired glucose tolerance: the San Luis Valley Diabetes Study.

Cardiovascular risk factor patterns were examined cross-sectionally in 856 Hispanic and Anglo subjects aged 20-74 years enrolled in the population-based San Luis Valley Diabetes Study of Colorado. Risk factor levels and prevalence were compared for 279 individuals with non-insulin-dependent diabetes mellitus, 89 with impaired glucose tolerance, and 488 with normal glucose tolerance. Sex-specific comparisons of continuous risk factors were made by diabetic status and ethnicity, adjusting for age using two-way analysis of covariance; similar comparisons of discrete variables were made using logistic regression. A number of vascular, metabolic, lipid, obesity-related, family history, and life-style risk factors for cardiovascular disease were examined. In general, biologic risk factors tended to be more strongly associated with diabetic status, while life-style risk factors varied more by ethnicity. Age-adjusted levels of systolic and diastolic blood pressure, hypertension history, triglyceride, and body mass index were lowest among normal subjects, intermediate for those with impaired glucose tolerance, and highest in subjects with non-insulin-dependent diabetes mellitus, while the trend was reversed for high density lipoprotein (HDL) cholesterol and its subfractions. Hispanics had lower serum uric acid levels and greater central obesity than Anglos; they were less likely to have a Type A personality, less physically active at work, and more likely to be a current smoker than Anglos. Hispanic males had a lower body mass index and a higher HDL cholesterol level than Anglo males. These results indicate that an adverse cardiovascular risk factor pattern is present not only in subjects with non-insulin-dependent diabetes mellitus but also in subjects with impaired glucose tolerance who are at increased risk of developing diabetes. This suggests that an adverse risk factor pattern may develop concurrently with or prior to the onset of impaired glucose tolerance. Future prospective studies will help to clarify the temporal sequence involved in the development of adverse cardiovascular risk factor patterns and impaired glucose tolerance.

Methods and prevalence of non-insulin-dependent diabetes mellitus in a biethnic Colorado population. The San Luis Valley Diabetes Study.

The San Luis Valley Diabetes Study was undertaken to determine the prevalence, risk factors, and complications of non-insulin-dependent diabetes mellitus in Hispanics and Anglos (non-Hispanic whites), using a geographically based case-control design. The study was conducted in two southern Colorado counties that include 43.6% Hispanic and 54.9% Anglo persons. Medical practice records were reviewed to identify medically diagnosed diabetics. Controls without diabetes were identified by a two-stage random sample of households. Diabetics (n = 343) and controls (n = 607) attended a clinic where an oral glucose tolerance test or current hypoglycemic therapy confirmed or diagnosed non-insulin-dependent diabetes mellitus. The age-adjusted prevalence of confirmed non-insulin-dependent diabetes mellitus was 21/1,000 in Anglo males and 44/1,000 in Hispanic males, accounting for non-response. For Anglo females, the prevalence was 13/1,000 compared with 62/1,000 for Hispanic females, accounting for nonresponse. Previously undiagnosed non-insulin-dependent diabetes mellitus was also higher among Hispanics. There was a 2.1-fold excess of confirmed non-insulin-dependent diabetes mellitus among Hispanic males and a 4.8-fold excess among Hispanic females, consistent with the excess non-insulin-dependent diabetes mellitus among Hispanics reported from comparable studies. Non-insulin-dependent diabetes mellitus is a major chronic disease problem for persons of Hispanic ethnicity.

Metastatic neuroblastoma after 52 years of dormancy.

A metastatic neuroblastoma arose in a posterior mediastinal tumor that had been present for at least 52 years. The diagnosis of neuroblastoma was first made when the patient was 81 years of age from biopsy of a metastatic lesion to the femur and later from biopsy of the mediastinal mass.