Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1261473 (sarcoma)
 25,952 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The molecular pathogenesis of alveolar soft part sarcoma, a rare tumor with uncertain histogenesis, was elucidated recently and was shown to be due to a translocation between chromosome 17q25 and Xp11 resulting in a fusion product between TFE3 (a transcription factor gene) at chromosome Xp11 and a novel gene designated as ASPL at chromosome 17q25. This results in the transcriptional dysregulation in the pathogenesis of this neoplasm. Of the 12 cases reported so far, the translocation was due to non-reciprocal translocation in 11 cases with only one case demonstrating a reciprocal translocation with respective fusion products. We report yet another case with reciprocal translocation between chromosomes 17q25 and Xp11 with TFE3/ASPL fusion product who presented with metastatic disease. A standard cytogenetic analysis of primary tumor cells with G-banding revealed an abnormal karyotype: 46, X, t(X;17)(p11;q25)[15]/46,XX[5]. PCR analysis of the frozen tumor tissue revealed a type 1 fusion product as described in the literature. We demonstrate a rare cytogenetic abnormality in ASPS, namely reciprocal translocation between chromosomes 17q25 and Xp11 with demonstration of molecular fusion product between TFE3 and ASPL in a patient who initially presented with pulmonary metastases.
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PMID:Alveolar soft part sarcoma--reciprocal translocation between chromosome 17q25 and Xp11. Report of a case with metastases at presentation and review of the literature. 1276 20

Alveolar soft part sarcoma (ASPS) is a rare tumour. Published series about treatment and outcome are scarce. Conclusive data about the response to chemotherapy are not available. The aim of this study was to analyse the efficacy of palliative chemotherapeutic treatment options and the incidence and mode of presentation of brain metastases. We retrospectively analysed our own sarcoma data-base and reviewed the literature. From our registry containing 757 patients, we identified 8 patients with ASPS. From the literature, 47 cases of adult patients and 13 children with sufficient data about chemotherapy were identified. Response to first-line chemotherapy in 68 patients was: complete remission (CR) 4%, partial remission (PR) 3%, stable disease (SD) 41%, progressive disease (PD) 51%. 285 patients with stage IV disease were evaluable for the analysis of metastatic sites. The incidence of brain metastases was 30.5% (87/285). Brain metastases were detected at a median interval of 48 months (range 0-396 months) after the primary diagnosis. Median survival after the diagnosis of brain metastases was 12 months. The median survival for patients with stage IV disease treated by chemotherapy was 36+ months (range 10-132 months) (31 patients evaluable) with a median follow-up of 46 months (range 10-135 months). ASPS shows a high incidence of brain metastases, at least 3 times higher than that of other soft tissue sarcomas. Chemotherapeutic regimens used for the treatment of other soft tissue sarcomas lack efficacy in ASPS. Staging investigations for ASPS should routinely include imaging of the brain. ASPS patients should not be treated with chemotherapy outside of controlled clinical trials. New targets for specific biologically-directed therapies need to be developed.
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PMID:Chemotherapy in alveolar soft part sarcomas. What do we know? 1285 56

Alveolar soft part sarcoma and pediatric renal cell carcinoma share a similar chromosomal abnormality, t(X;17)(p11.2;q25). Recently, it has been suggested that the inactivation of DNA mismatch repair genes hMLH1 and hMSH2 may play an additional role in the pathogenesis of alveolar soft part sarcoma. Immunohistochemical expression of the proteins hMLH1 and hMSH2 is indicative of the activation status of the corresponding genes. We performed immunohistochemistry for hMLH1 and hMSH2 in 4 cases of pediatric renal cell carcinomas with Xp11.2 rearrangements. All cases showed nuclear immunoreactivity for both proteins, although the staining was patchy. Our study demonstrates that inactivation of the DNA mismatch repair genes hMLH1 and hMSH2 does not appear to play a role in the tumorigenesis of pediatric renal cell carcinomas with Xp11.2 rearrangements.
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PMID:Pediatric renal cell carcinomas with Xp11.2 rearrangements are immunoreactive for hMLH1 and hMSH2 proteins. 1632 70

Alveolar soft part sarcoma (ASPS) is a rare soft tissue neoplasm. The coexistence of ASPS with cardiac metastasis is quite rare, in particular. In general, the sarcoma is a malignant disease and grows very fast. However, the mean survival time of patients with ASPS is relatively long. Patients who are diagnosed with localized disease usually have a favorable prognosis, while those who present with widespread metastases usually have a poor prognosis and ultimately, succumb to their disease. The use of modern treatment modalities, such as combination of surgery, and radiotherapy, may significantly prolong the survival time in many patients. Because of the long-term period with symptomatic brain tumors in this disease, the patients should be treated even in the presence of multiple metastases in other organs.
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PMID:Alveolar soft part sarcoma in brain with cardiac metastasis: a case report. 1705 85

Alveolar soft part sarcoma (ASPS) is a rare soft tissue sarcoma that most commonly arises in the deep soft tissues of the lower extremities of adults. Median survival of patients with metastatic ASPS has been reported to be from 3 to 3.3 years. The time between detection of metastases and death varies from 10 months to 6.2 years. In this article, a case of an 11-year-old male with primary ASPS of the right forearm is presented. Successful long-term local control of the primary tumor was achieved with wide margin surgical resection and adjuvant radiation therapy. Three years after diagnosis, the patient developed pulmonary metastases. Chemotherapy was unsuccessfully used to control the metastatic disease. Despite that, the patient survived longer than expected, and passed away 9 years after the detection of pulmonary metastases. This time to death after the development of metastases vastly exceeded the previously reported survival rates of patients with metastatic ASPS.
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PMID:Alveolar soft part sarcoma of the forearm: a case report. 1731 33

Alveolar soft part sarcoma (ASPS) is a rare epithelial-like soft tissue sarcoma. The two main sites of its occurrence are the lower extremities in adults and the head and neck in children. Primary pulmonary involvement of this sarcoma, without evidence of soft tissue tumor elsewhere, is very exceptional. We present a case of primary ASPS of the lung in a 42-yr-old woman. A computed tomographic scan of the thorax demonstrated a well-circumscribed, solid tumor located in the right upper lobe. The mass was resected by right upper lobectomy. After 5 months, three metastatic lesions, involving lumbar vertebrae and occipital scalp, were found. Histologically, the tumor consisted of alveolar nests of large polygonal tumor cells, the cytoplasm of which frequently revealed periodic acid-Schiff-positive, diastase-resistant intracytoplasmic rod-like structures. On immunohistochemical staining, the tumor cells were positive only for vimentin and alpha-smooth muscle actin. Ultrastructural study using electron microscopy revealed characteristic electron-dense, rhomboid intracytoplasmic crystals.
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PMID:Primary alveolar soft part sarcoma of the lung. 1744 53

This article provides an overview of the pathology of alveolar soft part sarcoma, focused on its morphology, special stains useful in diagnosis, and the clinical and radiographic features of the disease. Alveolar soft part sarcoma is a rare neoplasm of unknown histogenesis with poor prognosis. Although there are several immunohistochemical stains available to help reach the diagnosis, the morphology of the tumor should be considered the main diagnostic feature. The periodic acid-Schiff stain is the best single stain that supports the diagnosis.
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PMID:Alveolar soft part sarcoma. 1751 54

Alveolar soft part sarcoma is a rare soft tissue tumor. Most patients who are affected by this sarcoma are between 15 and 35 years old. The tumor is characterized by its uncommon location of metastasis. Publications concerning this sarcoma subform are rare and the best therapeutic procedure is not yet clear. Surgical excision, radiation and chemotherapy are performed, whereas complete surgical excision achieves the best results in long-term follow-up. We report a patient's history who rapidly died of his sickness despite the low initial tumor stage.
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PMID:[Aggressive course of a malignant alveolar soft tissue sarcoma]. 1764 62

Alveolar soft part sarcoma (ASPS), a rare soft tissue sarcoma, is characterized by a chromosomal translocation der(17)t(X;17)(p11;q25) resulting in the production of 2 fusion proteins encoded by regions of the genes for alveolar soft part locus (ASPL) and the transcription factor E3 (TFE3). In this study, polyclonal antibodies were generated to 25 mer peptides encompassing the junctional regions of ASPL-TFE3 type 1 and ASPL-TFE3 type 2. The specificity of the affinity purified antibodies for the synthetic peptides and recombinant expressed ASPL-TFE3 type 1 and ASPL-TFE3 type 2 proteins was evaluated by enzyme-linked immunosorbent assay and was highly fusion type specific. Immunohistochemical staining of formalin-fixed, paraffin-embedded ASPS tumors with the fusion-specific antibodies resulted in intense nuclear staining and differentiation between tumors that express the type 1 protein and tumors that express the type 2 protein. These antibodies will be useful for the differential diagnosis of type 1 and type 2 ASPS and also in the detection of the fusion proteins in biochemical and cell biologic investigations.
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PMID:Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma. 1817 80

Alveolar soft part sarcoma (ASPS) is a rare mesenchymal malignancy typically found in the extremities or chest of young adults. We present a case of an alveolar soft part sarcoma arising in the endocervix of a 38-year-old premenopausal woman. This cancer was treated by extrafascial hysterectomy. No evidence of metastatic disease was found after extensive surgical staging. Since treatment, she has since remained disease-free for more than 5 years without additional therapy. This is the second case of ASPS arising in the endocervix of which we are aware. Our observations suggest simple hysterectomy suffices for optimal clinical management of cervical ASPS and that surgical staging of this disease offers little prognostic benefit.
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PMID:Alveolar soft part sarcoma of the cervix: case report and literature review. 1854 61


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