Breast cysticercosis - a case report.

SUMMARY: Isolated incidences of human cysticercosis have been reported world-wide, but it remains a major public health concern in endemic areas such as Mexico, Africa, South-East Asia, Eastern Europe, and South America. Cysticercosis most commonly involves the skeletal muscle, subcutaneous tissue, brain, and eyes. The breast is an uncommon site of presentation for cysticercosis. Due to its rare occurrence, breast cysticercosis is often initially mistaken for other common breast lesions such as cysts, abscess, malignant tumours and fibroadenomas. We report a case of breast cysticercosis in a young South African woman.

The long non-coding RNA Gomafu is acutely regulated in response to neuronal activation and involved in schizophrenia-associated alternative splicing.

Schizophrenia (SZ) is a complex disease characterized by impaired neuronal functioning. Although defective alternative splicing has been linked to SZ, the molecular mechanisms responsible are unknown. Additionally, there is limited understanding of the early transcriptomic responses to neuronal activation. Here, we profile these transcriptomic responses and show that long non-coding RNAs (lncRNAs) are dynamically regulated by neuronal activation, including acute downregulation of the lncRNA Gomafu, previously implicated in brain and retinal development. Moreover, we demonstrate that Gomafu binds directly to the splicing factors QKI and SRSF1 (serine/arginine-rich splicing factor 1) and dysregulation of Gomafu leads to alternative splicing patterns that resemble those observed in SZ for the archetypal SZ-associated genes DISC1 and ERBB4. Finally, we show that Gomafu is downregulated in post-mortem cortical gray matter from the superior temporal gyrus in SZ. These results functionally link activity-regulated lncRNAs and alternative splicing in neuronal function and suggest that their dysregulation may contribute to neurological disorders.

Aggressive fibromatosis--impact of prognostic variables on management.

OBJECTIVE: To determine the impact of prognostic variables on local control in patients with aggressive fibromatosis treated with or without radiation. MATERIALS AND METHODS: Forty-two patients presenting to the combined sarcoma clinic at Johannesburg Hospital with aggressive fibromatosis from 1990 to 2003 were analysed retrospectively. There were 14 males and 28 females. The lesions involved the head and neck in 6 cases (14%), the thorax in 6 (14%), the extremities in 19 (45%) and the abdomen in 11 (26%). Thirty-seven patients (88%) presented to the clinic for the first time, whereas 5 (12%) had recurrent disease at presentation. Fifteen patients (36%) underwent excision only, 15 (36%) had excision followed by postoperative radiation, 8 (19%) had biopsy only, and 4 (9%) had radiation only. The median dose of radiation was 60 Gy (range 9 - 70 Gy). RESULTS: One patient had local failure following excision and postoperative radiation therapy. The local control was 100% for surgery alone and 86% for surgery followed by postoperative radiation at > or = 24 months. On univariate analysis, age, sex, positive margins, primary or recurrent presentation, site of involvement and initial treatment did not affect local control significantly. Eight of 19 patients (42%) receiving radiation developed severe moist desquamation following treatment, and all these patients had doses of 60 Gy or more. CONCLUSION: Surgery with or without radiation therapy gave excellent local control. The addition of radiation therapy to surgery as well as other known prognostic parameters did not impact on local control. The morbidity of radiation treatment is considerable, as noted in this series, and adjuvant radiation therapy should therefore be considered only in situations where the risk of recurrence and the morbidity of re-excision are high.

Aggressive fibromatosis - impact of prognostic variables on management : general surgery

Objective. To determine the impact of prognostic variables on local control in patients with aggressive fibromatosis treated with or without radiation. Materials and methods. Forty-two patients presenting to the combined sarcoma clinic at Johannesburg Hospital with aggressive fibromatosis from 1990 to 2003 were analysed retrospectively. There were 14 males and 28 females. The lesions involved the head and neck in 6 cases(14); the thorax in 6 (14); the extremities in 19 (45) and the abdomen in 11 (26). Thirty-seven patients (88) presented to the clinic for the first time; whereas 5 (12) had recurrent disease at presentation. Fifteen patients (36) underwent excision only; 15 (36) had excision followed by postoperative radiation; 8 (19) had biopsy only; and 4 (9) had radiation only. The median dose of radiation was 60 Gy (range 9 - 70 Gy). Results. One patient had local failure following excision and postoperative radiation therapy. The local control was 100for surgery alone and 86for surgery followed by postoperative radiation at 24 months. On univariate analysis; age; sex; positive margins; primary or recurrent presentation; site of involvement and initial treatment did not affect local control significantly. Eight of 19 patients (42) receiving radiation developed severe moist desquamation following treatment; and all these patients had doses of 60 Gy or more. Conclusion. Surgery with or without radiation therapy gave excellent local control. The addition of radiation therapy to surgery as well as other known prognostic parameters did not impact on local control. The morbidity of radiation treatment is considerable; as noted in this series; and adjuvant radiation therapy should therefore be considered only in situations where the risk of recurrence and the morbidity of re-excision are high

Composite hemangioendothelioma: a complex, low-grade vascular lesion mimicking angiosarcoma.

Eight cases of a previously uncharacterized vascular neoplasm, showing varying combinations of benign, low-grade malignant, and malignant vascular components are described. Seven tumors occurred in the dermis and/or subcutis and one occurred in the oral submucosa. The patients were all adults with a median age of 39.5 years (range, 21-71 years). Five patients were men. The tumors arose predominantly in the hands and feet, and the lesions were usually of several years duration. The tumors were composed of a complex admixture of histologic components that varied from tumor to tumor, such that no two tumors looked precisely the same. This was due to variation in the proportions of each component as well as the manner in which each component was distributed throughout each lesion. The predominant histologic components were epithelioid hemangioendothelioma (HE) and retiform HE, which were each present in seven of the tumors. Areas of spindle cell HE were identified in four lesions. Angiosarcoma-like elements were identified in seven tumors. One of the tumors was associated with an arteriovenous malformation and one was associated with an area of lymphangioma circumscriptum. Of six cases with follow up (median duration, 6.5 years), three have recurred locally and, to date, only one has metastasized. We think composite HE is best regarded as a low-grade malignant vascular neoplasm, and the available data suggest that it behaves more favorably than conventional angiosarcoma. The existence of these composite lesions has led to careful reexamination of the concept of HE. The term HE, in that it is currently synonymous with a low-grade malignant vascular tumor, should be reserved for lesions that have true metastatic potential, albeit with low frequency.

Angiosarcomas--clinical profile, pathology and management.

Files of 8 patients with primary angiosarcomas treated in the Department of Radiation Oncology at the University of the Witwatersrand from 1982 to 1995 were identified. None of these patients had received prior radiotherapy or chemotherapy which would have predisposed them to the formation of an angiosarcoma. Slides of 6 patients were reviewed. Five of the 6 were confirmed as having angiosarcomas, while 1 patient was found to have a peripheral neuro-epithelial tumour. Four patients had angiosarcomas of the breast, while there was 1 patient each with angiosarcoma of the skin, intestine and brain. Complete excision was the primary modality of management whenever possible. Postoperative radiotherapy was given in cases of incomplete excision, patient refusal of radical surgery or gross tumour. Four patients died within 4 months of diagnosis. Three patients are alive (2 with no evidence of disease) 22-96 months after diagnosis. In 1 patient follow-up details were not available as he did not return for treatment. Angiosarcomas are aggressive malignant tumours arising from the endothelial cells. Complete surgical excision is the treatment of choice in the management of this aggressive disease, which has a poor prognosis.

HHV-8 (KSHV) is not associated with bacillary angiomatosis.

AIMS: Bacillary angiomatosis is a rare pseudoneoplastic angioproliferative lesion occurring in patients with AIDS. This condition has been associated with Bartonella henselae and Bartonella quintana infections. Human herpesvirus 8 (HHV-8) is thought to be the causative agent of Kaposi's sarcoma, a vasoproliferative neoplasm, also commonly found in patients with AIDS. The presence of HHV-8 in a cohort of patients with bacillary angiomatosis was investigated. METHODS: Eight cutaneous cases of biopsy confirmed bacillary angiomatosis were assessed for HHV-8 using standard solution phase polymerase chain reaction (PCR). RESULTS: No case of bacillary angiomatosis harboured HHV-8 DNA. CONCLUSIONS: HHV-8 was not demonstrated in the lesions of bacillary angiomatosis and therefore does not appear to play a role in the pathogenesis of this pseudoneoplastic angioproliferative disorder. This finding might be useful in the distinction of bacillary angiomatosis from Kaposi's sarcoma, because lesions from patients with Kaposi's sarcoma almost always contains HHV-8 DNA.

HHV-8 is not associated with follicular dendritic cell tumours.

Follicular dendritic cell tumours are rare malignancies derived from the follicular dendritic cells of lymphoid follicles. These tumours have been associated with Epstein-Barr virus infections and with the hyaline vascular subtype of Castleman's disease. Because many examples of Castleman's disease have been associated with Kaposi's sarcoma associated herpes virus (HHV-8), this study uses polymerase chain reaction technology to examine five cases of follicular dendritic cell tumours for HHV-8. One of these cases had previously been documented to arise from pre-existing Castleman's disease. HHV-8 DNA was not detected in any of the follicular dendritic cell tumours examined, or in the original case of Castleman's disease. These findings suggest that HHV-8 plays no role in the aetiology of follicular dendritic cell tumours and the cause of this tumour remains obscure.

Sialadenosis: a presenting sign in bulimia.

BACKGROUND: Sialadenosis refers to noninflammatory, often recurrent, enlargement of the salivary glands, most frequently the parotids, which is almost always associated with an underlying systemic disorder. These include diabetes, alcoholism, malnutrition, anorexia nervosa, and bulimia. It is thought that the various causes of sialadenosis all result in a common pathogenetic effect in that they produce a peripheral autonomic neuropathy which is responsible for disordered metabolism and secretion, resulting in acinar enlargement. METHODS: This paper reports a case of sialadenosis as a presenting sign in bulimia and studies the histologic and electron microscopic features of this disease. RESULTS: Light microscopy showed acini which appeared to be larger than normal and which were composed of plump pyramidal cells containing prominent zymogen granules. There was less interstitial fat, and the ducts were widely dispersed. Electron microscopy showed the acinar cells to be packed with membrane-limited, dark secretory granules some of which showed moulding of their outlines. Cellular organelles and nuclei were inconspicuous. CONCLUSIONS: Management of sialadenosis depends upon identification of the underlying cause, which must then be corrected. In bulimia, the swellings may be refractory to standard treatment modalities, and parotidectomy may be considered as a last resort to improve the unacceptable aesthetics.

Spindle epithelial tumour with thymus-like element (SETTLE): the predominantly monophasic variant.

AIMS: To describe two cases of spindle epithelial tumour with thymus-like element (SETTLE) which are composed predominantly of spindle cells. In addition, to highlight some unusual histological features in SETTLE and discuss its separation from histological mimics. METHODS AND RESULTS: The thyroid masses were in a 4-year-old boy and a 25-year-old male. Both patients were euthyroid and were well except for thyromegaly. The specimens were formalin fixed, and immunohistochemistry was performed on this material using a panel of antibodies following microwave antigen retrieval. Morphologically, the dominant pattern was of sheets of spindle cells arranged in several patterns. There was mild pleomorphism and occasional mitoses. There were very small foci of squamous epithelium and occasional ductular structures. The stroma was composed of fibrous tissue and isolated areas of calcification were noted. The spindle cells showed strong and diffuse immunoreactivity with AE1/3, CAM5.2 and vimentin. CONCLUSION: We describe two cases of SETTLE that are composed mainly of spindle cells and only a very focal ductular component. In addition, calcification was noted within the stroma in one of the cases. These predominantly spindle examples of SETTLE must be separated from synovial sarcoma, which is a more mitotically active, aggressive tumour displaying only patchy immunopositivity with epithelial markers.

Synovial sarcoma of the parotid gland. A case report with clinicopathological analysis and review of the literature.

Primary sarcomas of the major salivary glands are exceptionally uncommon. Synovial sarcoma is a distinctive neoplasm which usually arises in the extremities in the region of joints. Although synovial sarcomas arising in the head and neck region are well described, tumours actually originating in and around the major salivary glands are exceedingly rare, with few cases reported in the literature. We report a synovial sarcoma in the right parotid gland of a 67-year-old man. The literature pertaining to salivary gland sarcomas and synovial sarcoma of the head and neck region is reviewed.

Cytopathology of follicular dendritic cell tumors.

Follicular dendritic cell tumors are rarely described entities, arising from antigen-presenting immune accessory cells, found within B-lymphocyte follicles in nodal and extranodal sites. We report two cases, one associated with Castleman's disease, in whom fine-needle aspiration biopsy was performed followed by surgical biopsy. The diagnosis was confirmed using immunoreactivity with CD21 and CD35 antibodies and by ultrastructural demonstration of interdigitating cell processes with desmosomes. Both the cytologic and histologic findings are presented, and the differential diagnoses are discussed. Awareness of this entity and recognition of the pathologic features may lead to a presumptive diagnosis which must be confirmed using imunohistochemistry and/or electron microscopy.

Symmetrical multifocal liposarcoma.

Multiple liposarcomas are extremely rare. We report on a patient with liposarcoma of the right lower limb who had undergone surgery and radiotherapy 4 years previously for a liposarcoma in the left lower limb. An outline of the management is discussed and a short review of available literature is given.

Follicular dendritic cell sarcoma. Clinicopathologic analysis of 17 cases suggesting a malignant potential higher than currently recognized.

BACKGROUND: The goal of this study was to characterize the clinicopathologic features of follicular dendritic cell sarcoma, a very uncommon neoplasm. METHODS: The 17 cases were collected from the consultation and surgical pathology files of the authors, including 8 previously reported cases. The histologic and immunohistochemical features and outcome were analyzed. RESULTS: The patients had a median age of 40 years, with a slight female predominance. Seven patients presented with enlarged lymph nodes, and ten presented with tumor in extranodal sites. Two cases were associated with hyaline-vascular Castleman's disease. The tumors had an average greatest dimension of 6.7 cm. The most common histologic feature was a storiform or fascicular array of spindle, ovoid, or polygonal cells with oval nuclei, delicate nuclear membrane, vesicular or granular chromatin, distinct nucleoli, indistinct cell borders, and frequently fibrillary cytoplasm. There were often scattered multinucleated forms. The tumor cells sometimes formed sheets, circular whorls, follicle-like structures, trabeculae, or pseudovascular spaces. There was a sprinkling of small lymphocytes, with or without cuffing around blood vessels. The neoplastic cells were immunoreactive for CD21 (17 of 17 cases), CD35 (17 of 17 cases), desmoplakin (10 of 17 cases), epithelial membrane antigen (14 of 16 cases), S-100 protein (6 of 17 cases), and CD68 (2 of 17 cases), but not cytokeratin. Ultrastructural studies showed villous processes connected by desmosomes. Only one harbored the Epstein-Barr virus. Among 13 patients with a median follow-up of 3 years, local recurrence occurred in 6, metastasis in 6, and 3 died of disease. CONCLUSIONS: Follicular dendritic cell sarcoma exhibits distinctive histologic features that permit its presumptive recognition, but a firm diagnosis requires confirmation with special studies. Because it has a significant recurrent and metastatic potential (the latter risk having been previously underestimated), it should be viewed as an intermediate grade malignancy. An intraabdominal location is associated with a particularly aggressive clinical course.