Maffucci’s syndrome associated with spindle cell hemangioendothelioma

 The case of a 49-year-old man with Maffucci’s syndrome, who developed multiple spindle cell hemangioendotheliomas, is presented. The case provides support for recent reports suggesting an association between this peculiar vascular lesion and skeletal enchondromatosis.     

In vitro andin vivo characterizations of established human follicular carcinoma cell line derived from thyroid cancer: A novel model for well-differentiated thyroid malignant tumor

A continuous cell line, named SMC R86 F1, was established from a surgically resected primary thyroid lesion. The cell grew as an adhering monolayer with a doubling time of about 25 hours in modified Eagle's medium supplemented with fetal bovine serum. When the cells were transplanted into athymic nude mice, tumors developed at the site of inoculation. The cells not only showed epithelial origin upon light and electron microscopic examination but also possessed a biosynthetic marker human thyroglobulin (hTg). In order to examine the iodide trapping ability of the xenografts, radioiodine at doses of 3.7 MBq was injected into the peritoneum of 131I treated nude mice bearing xenografts at about 4 weeks after the cell inoculation. Judging from the results of scintigraphic, autoradiographic and biodistribution studies, viable tissue of the xenografts in the treated mice had the ability to trap radioiodine. Histological sections of the xenografts resected from the treated mice consisted of follicle-like and trabecular growing structures, and immunohistochemically the cytoplasm of the tissues was hTg positive. The cells possessed the ability to trap radioactive iodine in vitro under the control of TSH. In addition, the expression of iodinated 19S Tg in the cell cytoplasms in the monolayer cultures was revealed by immunoblotting and autoradiographic assays. These observations provide strong evidence that the SMC R86 F1 cell line possesses well-differentiated properties of the malignant thyroid follicular epithelial cells.     

Intense and prolonged Tl-201 accumulation in a slow growing bronchioloalveolar carcinoma

Thallium-201 SPECT was performed to evaluate a pulmonary lesion in a 73-year-old male which had been considered to be an inflammatory lesion for two years. The lesion has slowly increased in size on x-CT. Tl-201 was intensely taken up and retained in the lesion, suggesting a malignant lesion. Histological examination revealed that the lesion was bronchioloalveolar carcinoma. This case suggested that Tl-201 uptake of pulmonary carcinoma would not be necessarily related to cell growth rate.     

Whole genome association study of rheumatoid arthritis using 27 039 microsatellites

A major goal of current human genome-wide studies is to identify the genetic basis of complex disorders. However, the availability of an unbiased, reliable, cost efficient and comprehensive methodology to analyze the entire genome for complex disease association is still largely lacking or problematic. Therefore, we have developed a practical and efficient strategy for whole genome association studies of complex diseases by charting the human genome at 100 kb intervals using a collection of 27,039 microsatellites and the DNA pooling method in three successive genomic screens of independent case-control populations. The final step in our methodology consists of fine mapping of the candidate susceptible DNA regions by single nucleotide polymorphisms (SNPs) analysis. This approach was validated upon application to rheumatoid arthritis, a destructive joint disease affecting up to 1% of the population. A total of 47 candidate regions were identified. The top seven loci, withstanding the most stringent statistical tests, were dissected down to individual genes and/or SNPs on four chromosomes, including the previously known 6p21.3-encoded Major Histocompatibility Complex gene, HLA-DRB1. Hence, microsatellite-based genome-wide association analysis complemented by end stage SNP typing provides a new tool for genetic dissection of multifactorial pathologies including common diseases.     

Incidence and characterization of age related amyloid deposits in the human anterior pituitary gland

Summary To identify amyloid deposits in the anterior pituitary gland, we have immunohistochemical, histochemical and alkaline Congo red staining. The anti-human P component reacted positively with these amyloid deposits, while antisera against prealbumin, AA type amyloid fibril protein and various anterior pituitary hormones were negative. A combination of Congo red and anti-human P component staining was most sensitive and reliable for detection of amyloid in the anterior pituitary glands of 300 randomly autopsied patients. Amyloid deposits increased in parallel with the age of the patients, however, they appeared earlier and more frequently than heretofore reported. Deposition of amyloid was seen initially in the 3rd decade and the positivity rate of amyloid deposits was 73% in the 5th decade. The histochemical characteristics of these pituitary amyloid deposits differed from those of cerebral and systemic deposits, particularly those found in the amyloid of senile systemic amyloidosis.This study was supported in part by a grant from the Fundation for Advancement of Clinical Medicine and Ministry of Health and Welfare of Japan     

Simple scintigraphic parameters with Tc-99m galactosyl human serum albumin for clinical staging of chronic hepatocellular dysfunction

Technetium-99m labeled diethylenetriaminepentaacetic acid (DTPA)-galactosyl human serum albumin (GSA) has been used for hepatocellular functional evaluation. This study proposed new and simple parameters to overcome the limitations of conventional parameters, and they were applied to the clinical staging of chronic liver dysfunction. The study group consisted of 93 patients including 81 with liver dysfunction and 12 control patients. In addition to the two conventional parameters, namely, receptor index (LHL15 = liver count divided by the sum of liver and heart counts at 15 minutes) and clearance index (HH15 = heart count at 15 minutes divided by the heart count at 3 minutes), 6 new parameters for Tc-99m GSA uptake and clearance were generated. The conventional receptor index of LHL15 showed a large variation depending on the size of region of interest (ROI) over the heart. The LHL15 normalized by the ROI size (nLHL15) showed more stable data and a better separation of mild liver dysfunction. A hyperbolic relationship between the LHL15 and HH 15 changed to a linear relationship by using the nLHL15 index. The combination of the liver to heart average count ratio at 15 minutes (LH 15) and T-half (minute) of the heart count also could differentiate each stage well. In conclusion, the use of the ROI-area normalized nLHL is recommended instead of the conventional LHL15. The indices of LH15 and T-half could be alternatively used as practical parameters for clinical staging in liver function.     

Sarcomatoid chordoma: chordoma with a massive malignant spindle-cell component

We report a case of chordoma containing a spindle cell sarcomatoid component with a gradual transition from conventional chordoma. Immunohistochemically, many tumor cells in both conventional chordoma and sarcomatoid components were positive for cytokeratins (AE1/AE3, CAM5.2) and epithelial membrane antigen as well as vimentin. This report provides a rare example of sarcomatoid chordoma. Familiarity with this type of bone tumor should help to avoid confusion with dedifferentiated chordoma and other spindle cell sarcomas or carcinomas. Received: 25 February 2000 Revision requested: 28 March 2000 Revision received: 30 May 2000 Accepted: 28 June 2000     

Relation between myocardial response to dobutamine stress and sympathetic nerve activation in patients with idiopathic dilated cardiomyopathy: A comparison of123I-MIBG scintigraphic and echocardiographic data

It is likely that a close association exists between findings obtained by two methods: dobutamine stress echocardiography and 123I-MIBG scintigraphy. Both of these methods are associated with beta-adrenergic receptor mechanisms. This study was conducted to demonstrate the relation between myocardial response to dobutamine stress and sympathetic nerve release of norepinephrine in the failing heart. In 12 patients with heart failure due to idiopathic dilated cardiomyopathy, the myocardial effects of dobutamine stress were evaluated by low-dose dobutamine stress echocardiography: and sympathetic nerve function was evaluated by scintigraphic imaging with iodine-123 [123I] meta-iodobenzylguanidine (MIBG), an analogue of norepinephrine. Echocardiography provided quantitative assessment of wall motion and left ventricular dilation; radiotracer studies with 123I-MIBG provided quantitative assessment of the heart-to-mediastinum (H/M) uptake ratio and washout rate. Results showed that H/M correlated with baseline wall motion (r = 0.682, p = 0.0146), wall motion after dobutamine stress (r = 0.758, p = 0.0043), the change in wall motion (r = 0.667, p = 0.0178), and with left ventricular diastolic diameter (r = 0.837, p = 0.0007). In addition, the 123I-MIBG washout rate correlated with baseline wall motion (r = 0.608, p = 0.0360), wall motion after dobutamine stress (r = 0.703, p = 0.0107), and with the change in wall motion (r = 0.664, p = 0.0185). Wall motion, especially in the myocardial response to dobutamine stress, is related to sympathetic nerve activity in heart failure.     

Intraosseous microcystic meningioma

Extradural ectopic meningioma is a rare tumor. We report on an example of microcystic meningioma arising in the skull of an elderly woman. Radiological examination revealed a localized osteolytic lesion in the left parietal bone. At surgery, it was discovered that the tumor was located within the skull without any evidence of extraosseous extension. The light microscopic, immunohistochemical and ultrastructural features were consistent with a microcystic variant of meningioma. To our knowledge, this is the first case of an intraosseous microcystic meningioma, and we believe that this type of meningioma should be considered in the differential diagnoses of myxoid bone tumors of the calvarium. Received: 10 January 2000 Revision requested: 21 February 2000 Revision received: 8 March 2000 Accepted: 13 March 2000