Clinical and biochemical manifestations of hyaluronidase deficiency.
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Adolescent↗
Biomedical subjects
G R Dickersin
Publications and source records attributed to G R Dickersin.
Retroperitoneal malignant meningioma. A light microscopic, immunohistochemical, and ultrastructural study.
Malignant meningiomas are uncommon and rarely occur outside the central nervous system. We describe herein a morphologically unusual malignant neoplasm that arose in the retroperitoneum of a 25-year-old woman. The tumor was composed of sheets of epithelioid cells that were frequently arranged in prominent whorls. By electron microscopy, the neoplastic cells had long, tapering cell processes that formed numerous interdigitations; many junctions including desmosomes; and abundant intermediate filaments. Immunohistochemistry showed that the tumor cells expressed vimentin, keratin, and epithelial membrane antigen. Based on these findings, the neoplasm was classified as a malignant meningioma. According to our review of the literature, this is the first reported occurrence of a primary retroperitoneal meningothelial neoplasm and the second reported case of an ectopic meningioma that was malignant.
Adrenal Glands↗
Angiomyofibroblastoma of the vulva and vagina.
Nine vulvar and three vaginal angiomyofibroblastomas from patients 23 to 71 years of age (mean, 46 yr) were analyzed. The tumors were well circumscribed and ranged from 0.9 to 11 cm (average, 4.7 cm) in maximal dimension. On microscopic examination, they had hypercellular and hypocellular areas. The neoplastic cells were spindle-shaped, plasmacytoid, or epithelioid; a variable number were binucleated or multinucleated cells. A focal storiform pattern was present in one tumor, and, in one tumor, the neoplastic cells formed a collar around a central area of dense collagen. There was no significant nuclear atypia, and there was less than one mitotic figure per 10 high-power fields. The tumors contained small- to medium-sized blood vessels, which were characteristically thin walled and, occasionally, ectatic and branching. The stroma was edematous, separated collagen fibers and contained a variable number of inflammatory cells, especially lymphocytes and mast cells. Three vulvar tumors contained a variable amount of fat. Ultrastructural study of three tumors showed intracytoplasmic, dilated, rough endoplasmic reticulum, moderate numbers of pinocytotic vesicles, and numerous filaments without dense bodies; rare intercellular rudimentary junctions were identified. Eleven of 11 tumors were immunoreactive for vimentin, 11 of 12 for desmin, three of 11 for muscle actin, one of 12 for smooth muscle actin, and four of 12 for CD34. There was no staining for factor XIIIa, keratin, S100 protein, Leu-7, glial fibrillary acidic protein, or CD68. Follow-up revealed no recurrences or metastases. Angiomyofibroblastoma is a distinctive benign tumor that arises most commonly in the vulva and vagina and has a diverse histologic and immunohistochemical profile.
Adult↗
Collagenous fibroma (desmoplastic fibroblastoma): a report of seven cases.
We report the clinical features, light microscopic and ultrastructural appearance, and the immunohistochemical profile of seven benign fibrous tumors recently designated as desmoplastic fibroblastoma. The tumors occurred in four women and three men, who ranged in age from 41 to 76 years (mean, 53 yr). The tumors were located in the left thigh, right shoulder, right upper arm, left forearm, right neck, posterior neck, and foot and measured from 1.5 to 8 cm (mean, 4.6 cm) in greatest diameter. Four tumors were located in the subcutaneous tissue, two tumors were intramuscular, and one tumor involved the subcutaneous tissue and adjacent skeletal muscle. Six patients underwent a simple excision; one patient underwent a wide excision of the tumor. Grossly, the tumors were well circumscribed with a white to tan-white, bulging cut surface. Microscopically, they all displayed similar features and were composed of widely separated stellate- or spindle-shaped cells embedded in a hypovascular fibrous or fibromyxoid stroma. No mitotic figures, calcifications, or necrosis were identified. Five tumors were well demarcated, and two tumors had focally infiltrating margins. Ultrastructural examination performed on two cases showed that the tumor cells had features of fibroblasts and myofibroblasts. Immunohistochemical examinations performed on six cases showed that all of the tumors were diffusely positive for vimentin. One tumor showed diffuse staining for smooth muscle actin, and two tumors were focally positive for that antibody. One tumor showed diffuse staining for muscle actin, and another one was focally positive. Two tumors demonstrated diffuse faint staining for S100 protein. There was no staining for desmin, keratin, or CD34. Follow-up information was available in four cases and ranged from 1 to 60 months (average, 24 mo). No tumor recurred. Although the term desmoplastic fibroblastoma has been applied to this neoplasm, we think that the name collagenous fibroma is more appropriate for these tumors.
Adult↗
Synovial sarcoma of the vulva: a report of two cases.
We report two cases of synovial sarcoma arising in the vulva. The patients were 30 and 37 years old and presented with a painless mass that was interpreted clinically as a cyst. The tumors were 2.0 and 1.2 cm in greatest diameter. Histologically, they were composed of epithelial cells forming solid nests and gland-like and papillary structures surrounded by spindle-shaped cells. Immunohistochemically, the epithelial cells stained for cytokeratin and the spindle-shaped cells for vimentin. Ultrastructurally, the epithelial cells had prominent intercellular junctions and narrow microvilli and were separated from the spindle-shaped cells by a basal lamina. The spindle-shaped cells were closely apposed with focal intercellular contacts. One tumor recurred locally 3.5 years after excision, but the patient was alive and well 1 year after a re-excision and radiation therapy. The other patient was alive and well 4 years after an excision. These tumors are the first reported examples of synovial sarcoma arising in the vulva.
Adult↗
Desmoplastic neurotropic melanoma. A clinicopathologic analysis of 28 cases.
BACKGROUND: Desmoplastic neurotropic melanoma (DNM) is a rare variant of malignant melanoma, the natural history and histogenesis of which still are being defined. METHODS: The clinical and histologic features of 28 cases of DNM were studied. All published cases of DNM to date were reviewed. Paraffin sections from 26 cases were investigated with a panel of 10 tissue markers. The ultrastructural features of seven cases were evaluated. RESULTS: A comparison of this study's findings with that of other published cases revealed many similarities regarding clinical and pathologic findings and outcome. The patients were white (15 men:13 women; mean and median age, 59 years; range, 22-83 years). Most tumors were located on the head and neck (75%) and were nonpigmented (57%). An associated intraepidermal melanocytic proliferation was identified in 85% of the patients (lentigo maligna in 56%). Histologically, the dermal tumors were composed of tapered, nonpigmented spindle cells in peripheral nerve sheath patterns resembling neuromas, schwannomas, neurofibromas, and perineurial proliferations accompanied by variable neurotropism and desmoplasia; desmoplasia was the most notable feature in most tumors. The mean depth of tumor invasion was 4.1 mm (range, 0.32-9.0 mm). Tumors with continuity between the epidermal and dermal components had a significantly thinner depth of invasion and a more extensive intraepidermal melanocytic proliferation than those tumors with a grenz zone between the two components (2.3 mm vs. 4.6 mm, P = 0.015). Mitotic activity ranged from 0/HPF in 10 cases, 1-6/high power field (HPF) in 12 cases, and to greater than 6/HPF in 4 cases. An ulcer was present in 5/27 tumors, regression in 4/27, a microsatellite in 1, and brisk and had nonbrisk tumor infiltrating lymphocytic responses in 2 and 14, respectively. Vimentin was uniformly positive and keratins AE1.3 and Cam 5.2 and Leu-7 were uniformly negative. S100 protein, also uniformly positive, had patchy reactivity in most tumors that expressed EMA (43%). Smooth muscle actin (52%), neuron-specific enolase (42%), and FXIIIa (30%) had patchy positivity. HMB-45 was reactive only in the epidermal and superficial papillary dermal component in 21% of cases. Ultrastructurally, the common features were long, often intertwining cellular processes, intercellular junctions, and discontinuous basal lamina. Melanosomes were not identified. Follow-up data available on 26/28 patients (mean, 36 months; median, 24 months; range, 5-132 months) showed 20 (70%) alive without disease, 2 alive with disease and 3 dead from disease. Seven patients had recurrent local tumor (multiple in four); four had lymph node metastases, and three had visceral metastases. Patients with recurrent disease of any type had significantly thicker tumors (5.4 mm vs. 3.4 mm, P = 0.046) and were more likely to have an ulcerated tumor (P = 0.03). Actuarial 5-year survival for tumors with greater than a 4-mm thickness was 72%, which was greater than that for other types of melanoma with greater than a 4-mm thickness. CONCLUSIONS: Desmoplastic neurotropic melanomas are neuroectodermal tumors that usually arise from an intraepidermal melanocytic proliferation but rarely develop de novo in the dermis. Schwannian and perineurial differentiation may account for the desmoplasia and neurotropism encountered in these neoplasms. Desmoplastic neurotropic melanomas present at a more advanced stage locally and may be associated with a better survival than associated with conventional melanomas of similar depth of invasion.
Adult↗
Fatty acid ethyl esters decrease human hepatoblastoma cell proliferation and protein synthesis.
BACKGROUND/AIMS: Fatty acid ethyl esters (FAEEs) are nonoxidative products of ethanol metabolism. They have been implicated as mediators of ethanol-induced organ damage because FAEE and FAEE synthase have been found specifically in the organs damaged by ethanol abuse. This study showed toxicity specifically related to FAEE or their metabolites for intact human hepatoblastoma-derived cells (HepG2). METHODS: The lipid core of human low-density lipoprotein (LDL) was extracted and the LDL particle reconstituted with either ethyl oleate or ethyl arachidonate. Cultured HepG2 cells were incubated with LDL containing FAEE. Cell proliferation was measured by [methyl-3H]thymidine incorporation. Protein synthesis was determined using L-[35S]methionine. RESULTS: Incubation of cells with 600 mumol/L ethyl oleate or 800 mumol/L ethyl arachidonate decreased [methyl-3H]thymidine incorporation into HepG2 cells by 31% and 37%, respectively. LDL reconstituted with 400 mumol/L ethyl oleate decreased protein synthesis in intact HepG2 cells by 41%. Electron microscopy revealed significant changes in cell morphology, particularly involving the cell nucleus. FAEE delivered in reconstituted LDL were rapidly hydrolyzed and the fatty acids re-esterified into phospholipids, triglycerides, and cholesterol esters, with preference for triglycerides. CONCLUSIONS: These findings provide evidence that FAEE are toxic for intact human hepatoblastoma cells and that they or their metabolites may be an important causative agent in ethanol-induced liver damage.
Cell Division↗
Metanephric adenoma of the kidney. A clinicopathological, immunohistochemical, flow cytometric, cytogenetic, and electron microscopic study of seven cases.
We report seven examples of a distinctive adenomatous tubular cortical neoplasm of the adult kidney. The average age of the patients (six women and one man) was 48.6 years (range, 38-64 years). In six patients the tumor was discovered during investigation of unrelated conditions, and all were treated with total nephrectomy. One tumor was found at autopsy. The tumors were well-circumscribed, nodular, tan-pink masses localized to the kidney, ranging in size from 0.6 to 8 cm. Histological examination demonstrated orderly, closely packed, small round tubules lined by bland, darkly staining oval cells with little cytoplasm, merging with rounded nests of similar cells. Occasional branching, elongated tubules, and papillary infoldings of glomeruloid-like bodies were present but blastema was absent. The tumor cells were immunoreactive for Leu 7 (three of five cases) and vimentin (four of six cases), and a few tumors were immunoreactive for cytokeratin (two of six cases), epithelial membrane antigen (one of six cases), and muscle-specific antigen (one of six cases). Ultrastructural examination of two tumors revealed tubular and solid nests of epithelial cells surrounded by basal lamina, with prominent cell junctions, microvilli, and apical secretory granules. DNA content analysis by flow cytometry yielded diploid histograms (four of four cases). Cytogenetic analysis of one case revealed a normal male karyotype. Clinical follow-up, available for six patients, revealed no evidence of recurrence (mean follow-up, 60.8 months). We believe this is a benign tumor, best classified as a metanephric adenoma because of its embryonic architectural and cytological appearance, that can be recognized by its very characteristic pathological features.
Adenoma↗
Lipomatous hemangiopericytoma. A histologic, ultrastructural and immunohistochemical study of a unique variant of hemangiopericytoma.
We report three cases of a unique, previously undescribed soft tissue tumor composed of mature adipocytes and hemangiopericytomatous areas, for which we propose the term lipomatous hemangiopericytoma. The tumors occurred in adults and were located in the sinonasal area, the soft tissue of the shoulder, and the retroperitoneum. The tumors ranged in size from 4 to 10 cm in greatest diameter and grossly were solid and ranged from tan to yellow. Histologically, they were composed of a variable admixture of benign lipomatous and hemangiopericytomatous components. Immunohistochemically, they stained with antibodies to vimentin and not to alpha-smooth-muscle actin, muscle-specific actin, desmin, S-100 protein, glial fibrillary acidic protein, epithelial membrane antigen, or keratin. Ultrastructurally, the cells constituting the hemangiopericytomatous areas had the features of pericytes, and no lipoblasts or transitional forms between lipocytes and pericytes were found. The histologic differential diagnosis of this neoplasm includes spindle-cell lipoma, angiolipoma, liposarcomas, tumors showing smooth muscle and adipocytic differentiation, and hemangiopericytoma infiltrating fat. Because of the small number of cases and the limited follow-up, we cannot be certain of their biologic behavior, although we expect that they are benign. Lipomatous hemangiopericytoma represents a distinctive pathologic entity that should be recognized and studied further.
Adult↗
Chondroid lipoma, a tumor of white fat cells. A brief report of two cases with ultrastructural analysis.
Chondroid lipoma is a recently described variant of lipoma with unusual morphologic features. Although classified as a fatty neoplasm, its phenotype is uncertain because it has not been determined whether cartilage is a real component or only simulated by light microscopy and whether the adipocytes demonstrate white or brown fat differentiation, issues that can be resolved only by electron microscopy. We present two cases of chondroid lipoma that ultrastructurally showed abundant intracytoplasmic lipid and glycogen and numerous pinocytotic vesicles, characteristic of white adipocytes. These findings support the conclusion that these tumors are composed solely of fat without true cartilage differentiation.
Adipocytes↗
Alveolar soft-part sarcoma of the female genital tract: a report of nine cases and review of the literature.
Nine alveolar soft-part sarcomas of the female genital tract (four previously reported) occurred in patients 14-38 (mean 29) years of age. The most common clinical presentation was abnormal uterine bleeding. Two tumors were located in the vagina, three in the cervix or lower uterine segment, three in the uterine corpus, and one in the broad ligament. The tumors were solid and well circumscribed, ranging in maximum dimension from 1 to 9.8 (average 3.6) cm and had the characteristic histologic features of alveolar soft-part sarcoma. Granules that were diastase resistant and positive by periodic acid-Schiff (PAS) were present in all the tumors, and PAS-positive, diastase-resistant crystals were present in eight of them. Follow-up information ranging from 9 months to 17 years (average 62 months) was available for all the patients. One patient died of metastatic disease 25 months after diagnosis; eight other patients had uneventful follow-up periods ranging from 9 months to 17 years (average 67 months). The differential diagnosis of these tumors is discussed and the literature reviewed.
Adolescent↗
"Streptococcus milleri" strains displaying a gliding type of motility.
Isolates belonging to the "Streptococcus milleri" species group that appear to exhibit a gliding type of motility, which is expressed as spreading growth on certain types of agar media, are described. These strains resembled a biotype of "S. milleri" that is usually isolated from genitourinary sources and is notable for its ability to ferment a wide array of carbohydrates. This biotype, which is currently included in the species Streptococcus anginosus, has been implicated in cases of neonatal infection. The "S. milleri" isolates which we studied lacked any observable organelles of motility and gave negative results when they were tested in conventional motility test medium stab cultures. Colonies growing on certain agar media, however, spread over the surfaces of plates and increased in area with increasing time of incubation. Chocolate agar supported maximum spreading, while this characteristic was barely discernible on blood agar. Electron microscopy studies revealed that there was more production of extracellular glycocalyx by motile strains than by a nonmotile isolate having a similar biotype. The results of an analysis of 16S rRNA gene sequences suggested that the motile strains are closely related to S. anginosus and represent a distinct rRNA population within the "S. milleri" species complex.
Base Sequence↗
Malignant epithelioid hemangioendothelioma of the tibia associated with a bone infarct in a patient who had Gaucher disease. A case report.
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Adult↗
Involvement of granulocyte-macrophage colony-stimulating factor in pulmonary homeostasis.
The in vivo function of murine granulocyte-macrophage colony-stimulating factor (GM-CSF) was investigated in mice, carrying a null allele of the GM-CSF gene, that were generated by gene targeting techniques in embryonic stem cells. Although steady-state hematopoiesis was unimpaired in homozygous mutant animals, all animals developed the progressive accumulation of surfactant lipids and proteins in the alveolar space, the defining characteristic of the idiopathic human disorder pulmonary alveolar proteinosis. Extensive lymphoid hyperplasia associated with lung airways and blood vessels was also found, yet no infectious agents could be detected. These results demonstrate that GM-CSF is not an essential growth factor for basal hematopoiesis and reveal an unexpected, critical role for GM-CSF in pulmonary homeostasis.
Animals↗
Solitary fibrous tumor of the orbit.
We report three cases of an orbital soft tissue lesion that fulfills the histologic, immunohistochemical, and electron microscopic criteria for solitary fibrous tumor, an entity previously described as a pleural tumor, but recently reported to occur in other locations. All three patients presented with proptosis. Two of the patients were cured by simple excision, and one patient had two recurrences, the last recurrence incompletely excised. The findings indicate that solitary fibrous tumor can occur in the orbit and, like solitary fibrous tumors of other anatomic sites, may behave in a nonaggressive or occasionally, locally aggressive fashion, with as yet no metastatic potential demonstrated in orbital lesions.
Actins↗
Lipofuscin pigmentation (so-called "melanosis") of the prostate.
Although intraepithelial pigment in the prostate gland has been termed melanosis, the nature of the pigment is not entirely clear, and many pathologists are not aware of its existence. We examined 863 hematoxylin and eosin (H + E) stained slides from 150 surgical specimens of prostate (69 needle biopsies, 66 transurethral resections, 14 radical prostatectomies, and 1 suprapubic prostatectomy) from 149 patients (age range, 47 to 90 years; mean 70 years) in an effort to characterize this pigment. The 1-3 microns in diameter, predominantly subnuclear, yellow-brown to gray-brown granules with a dark blue rim (by H + E) stained positively with Fontana-Masson, periodic acid-Schiff with diastase, Congo red, luxol fast blue, and oil-red-O and exhibited yellow autofluorescence consistent with lipofuscin. H + E stained slides revealed pigment in the benign epithelium in 86 of 150 cases (57%), within stromal macrophages in eight cases, and in atypical epithelium in two cases of high-grade prostatic intraepithelial neoplasia. Ten cases of invasive adenocarcinoma without recognizable pigment in H + E stained sections were stained by the Fontana-Masson technique, and pigment was identified in malignant epithelium in three of these cases. Ultrastructural examination of intraepithelial pigment in KII-fixed tissue from three radical prostatectomy specimens demonstrated the typical appearance of lipofuscin. Although intraepithelial pigment in prostatic biopsy or resection specimens is usually considered characteristic of seminal vesicle epithelium, our study demonstrates that lipofuscin is commonly present in epithelial cells of benign prostatic hyperplasia and less frequently in those of prostatic intraepithelial neoplasia and adenocarcinoma. The recognition of this pigment is important in preventing diagnostic confusion with seminal vesicle epithelium and with melanocytic lesions.
Aged↗
Endometrioid carcinoma of the ovary and endometrium, oxyphilic cell type: a report of nine cases.
Six endometrioid carcinomas of the ovary and three of the endometrium composed predominantly or entirely of large eosinophilic (oxyphilic) cells are reported. The ovarian tumors occurred in women 31-75 years of age, with a mean of 58 years, and the endometrial tumors occurred in women 37-50 years, with a mean of 44 years. All the ovarian tumors and one endometrial tumor contained focal areas typical of endometrioid carcinoma, with round to oval tubular glands lined by simple or stratified columnar cells and focal squamous differentiation. Two endometrial tumors were composed almost exclusively of oxyphilic cells lining glands. One endometrial tumor contained prominent luminal and intracytoplasmic mucin. Five of the ovarian tumors were grade 2/3 and one was grade 3/3, whereas two of the endometrial tumors were grade 1/3 and one was grade 2/3. The prominence of the oxyphilic cells posed diagnostic difficulty in most of the cases. Electron microscopic examination performed on all tumors showed abundant mitochondria in only one, an ovarian tumor. Other organelles, especially microfilaments and tonofibrils, are cited as other possible reasons for the eosinophilia. Four of the nine cases were recent; follow-up of the remaining five showed a biological behavior similar to the typical endometrioid carcinoma of the ovary and endometrium. We suggest that the diagnosis of "endometrioid carcinoma, oxyphilic cell type" is appropriate for this variant of carcinoma largely composed of eosinophilic cells that may or may not be "oncocytic" in nature. The importance of recognizing this entity lies in distinguishing it from diverse other primary and metastatic oxyphilic cell tumors of the ovary and eosinophilic cell metaplasia and rare other types of primary carcinoma with eosinophilic cells of the endometrium, which may be especially challenging in a curettage or biopsy specimen.
Adult↗
Expression of epithelial markers in malignant fibrous histiocytoma of the musculoskeletal system: an immunohistochemical and electron microscopic study.
We performed an immunohistochemical and ultrastructural study on 67 specimens of malignant fibrous histiocytoma (MFH) from 65 patients. Most of the tumors were musculoskeletal in origin and all presented clinically as a primary malignancy. The tumors were high grade and 57 of 67 were the storiform-pleomorphic subtype. Immunohistochemical studies were performed in 34 cases with both fresh-frozen and formalin-fixed tissue; in 33 cases only formalin-fixed tissue was available. The immunohistochemical panel included vimentin, various molecular weight keratins, epithelial membrane antigen (EMA), desmin, alpha-1-antitrypsin, and alpha-1-antichymotrypsin. Seventeen of 67 (25.4%) cases stained with one or more keratin antibodies. The low molecular weight cytokeratins demonstrated the most widespread and intense staining and, using fresh-frozen tissue, increased sensitivity. Epithelial membrane antigen was detected in 20.6% of cases and six of these cases also stained with keratin. The EMA staining was more focal and less intense than the keratin reactivity. The keratin- or EMA-positive cases were not distinguished by their light microscopic or ultrastructural features. Desmin staining was focally present in 16.9% of cases. The vast majority of tumors stained with vimentin and alpha-1-antitrypsin or alpha-1-antichymotrypsin. There was no staining of tumor cells for S-100. Appropriately fixed tissue was available for electron microscopic evaluation in 15 of 23 MFHs that stained with keratin or EMA. Ultrastructurally, all tumors were composed of an admixture of cells that had the features of fibroblasts, myofibroblasts, and histiocytes; no epithelial structures were identified. This study confirms that MFH may express epithelial markers. It emphasizes the importance of using electron microscopy and clinical findings to distinguish keratin or EMA-positive MFH from carcinoma. This distinction is important because of the significant differences in therapy and prognosis.
Adult↗