Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027627 (metastases)
 103,950 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Alveolar soft part sarcoma of the lung seen in a 42-year-old female is reported. In the partial pneumonectomy specimen, there was a 3 x 2.5 cm tumor arising from the pulmonary vein at the level of the right lung hilus, with tumor thrombus formation. The transition between the tumor and venous smooth muscle layer was microscopically confirmed. At autopsy, performed 18 months after surgery, metastases were noted in the left lung and brain. No primary focus was identified in the soft tissue. The alveolus-forming clear tumor cells contained diastase-resistant periodic acid-Schiff-reactive granules. Immunohistochemically, granular cytoplasmic reactivities with monoclonal antibodies against pan-actin and alpha-sarcomeric actin were demonstrated, whereas other muscle markers such as desmin, alpha-smooth muscle actin, myoglobin, fast skeletal myosin, and the mm-isozyme of creatine kinase were negative. Ultrastructurally, crystallized structures were occasionally identified in the membrane-bound, electron lucent granules, which often filled the tumor cell cytoplasm. The muscle cell nature of the neoplasm is discussed.
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PMID:Alveolar soft part sarcoma of the pulmonary vein. 150 8

Alveolar soft part sarcoma is a rare malignancy. To our knowledge, 13 cases in the head and neck have been reported previously. It occurs more commonly in the extremities, where it is associated with a poor prognosis. Its clinical course resembles that of adenoid cystic adenocarcinoma in that late metastases often cause death in 10 to 15 years. A 5-year-old girl with alveolar soft part sarcoma was successfully treated with partial glossectomy and is free of disease at two-year follow-up.
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PMID:Alveolar soft part sarcoma of the tongue. 663 26

Alveolar soft part sarcoma is a neoplasm that usually presents as a slow-growing mass located in an extremity and is most often initially discovered by the patient, who then seeks medical evaluation (1, 2). Local pain or symptoms produced by metastases as the initial manifestations of this neoplasm are unusual (2). A case is presented in which CT demonstrated multiple metastases to the central nervous system that produced headaches as the first symptoms in a patient with alveolar soft part sarcoma.
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PMID:Alveolar soft part sarcoma. 726 51

Alveolar soft part sarcoma (ASPS) was described as a distinct entity in 1952. ASPS mainly affects young adults, with a slight prevalence of female patients. It arises in the extremities, trunk, and head and neck region. Metastases are frequent and are mainly localized to lungs, brain, and bone. Local recurrences are rare if the primary tumor is completely excised. Adjuvant chemotherapy or radiotherapy are not useful. Death eventually supervenes, after several years, in most of the patients. Histogenesis and differentiation of ASPS, since its first description, have remained a matter of controversy. Many hypotheses have been taken into consideration, among which neural and muscular differentiation are the most plausible. The finding that intracytoplasmic crystals, present in most of the cases, are composed of actin, and the immunocytochemical localization in ASPS of several muscular markers, such as actin (skeletal and smooth muscle actin), desmin, and MyoD1 are all features that point towards skeletal muscle differentiation.
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PMID:Alveolar soft-part sarcoma: a new type of rhabdomyosarcoma? 820 47

Metastasis to the breast is uncommon, with an incidence of 0.5-3%. Alveolar soft part sarcoma is rare, accounting for < 1% of malignant soft tissue tumors, which are themselves unusual. Excluding contralateral breast and hematologic malignant disease, the primary lesion in most cases of metastasis to the breast is melanoma, small cell carcinoma of the lung, or ovarian carcinoma, although rhabdomyosarcoma is the most common primary tumor in children. We describe a 26-year-old woman with no history of malignant disease who presented with two masses in the right breast that clinical evaluations and ultrasonography indicated were fibroadenomas. Pathological studies after excisional biopsy, however, indicated alveolar soft part sarcoma. Subsequent computed tomography showed the primary tumor in the anterior left thigh and multiple bilateral lung metastases. Because of the presence of distant metastases, the patient was treated with chemotherapy.
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PMID:Alveolar soft part sarcoma metastatic to the breast. 860 50

Alveolar soft part sarcoma is a soft tissue malignancy most often found in the extremities of young adults; when these tumors arise in the head and neck area, they usually appear in the orbit or the tongue. Their initial behavior is relatively indolent, but over time a sizable number of these tumors recur locally and metastasize; as such, they are best regarded as fully malignant neoplasms. The derivation of these tumors remains uncertain: while some have suggested that these are tumors of muscle origin and others have postulated a neuroendocrine origin, the evidence accumulated to date is conflicting, and so these neoplasms continue to be regarded as tumors of uncertain origin. Surgical excision is the mainstay of therapy.
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PMID:Alveolar soft part sarcoma of the head and neck region. 974 54

Alveolar soft part sarcoma (ASPS) is a rare malignant neoplasm characterized by slow growth and indolent behavior. The role of proliferative markers and tumor suppressor genes is unknown in these tumors. To investigate their potential role in diagnosis and prognosis, we studied 13 cases of primary ASPS and 14 metastases and correlated them with clinicopathologic parameters. Immunohistochemistry was performed with anti-p53 and anti-Ki-67 antibodies. Polymerase chain reaction after tumor microdissection was performed to search for possible loss of heterozygosity in chromosomes 1p, 9p, 17q, 22q, and TP53 to identify possible changes that may clarify the histogenesis of these tumors. Four of five (80%) primary ASPS cases were positive for Ki-67 and all of them developed later metastases. One patient whose tumor did not stain for Ki-67 remained free of disease for 9 years. Eleven of 13 (85%) metastases were positive for Ki-67; however, there was no correlation with final outcome. All the primary ASPS cases analyzed for p53 yielded negative results, but two (15%) of 13 metastases were weakly positive. There was no correlation of these markers with prognosis or clinicopathologic parameters. No loss of heterozygosity was found except in one of nine (11%) informative metastases for D1S165 (at 1p36). Our preliminary data suggest that Ki-67-positive immunostaining may be a prognostic indicator for the development of metastases in ASPS.
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PMID:Alveolar soft part sarcoma: the role of prognostic markers. 1091 82

The aim of this study was to evaluate the presentation, course and treatment outcome of 15 patients with this rare type of sarcoma. The files of the patients were retrospectively analysed. Overall survival was calculated according to the Kaplan-Meier method. There were 15 patients, 8 male and 7 female. The mean age at diagnosis was 29 years for men and 24 years for women. The median survival was 48 months with an overall 5-year survival of 38%. 5 patients had haematogenic metastases at the time of diagnosis. For the remaining 10 patients with localised disease, the median survival was 48 months and the 5-year survival 48%. The median disease-free survival for these patients was 12 months with a 5-year disease free survival of 40%. After the occurrence of haematogenic metastases, patients survived a median period of 8 months (range 0-45 months). 5 patients are still free of disease after a median period of 234 months (12-295 months). Alveolar soft part sarcoma is found especially in young adults. When diagnosed, it is often metastasised with a poor prognosis. However, when radically resected, long-term survival is possible.
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PMID:Alveolar soft part sarcoma. a report of 15 cases. 1209 Oct 61

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 soft tissue tumor of unknown origin and pathogenesis. We clinicopathologically analyzed 16 cases of ASPS and screened for the genetic alterations of various tumor-suppressor genes and oncogenes, including p53, adenomatous polyposis coli (APC), E-cadherin, and beta-catenin, in 11 cases of ASPS. We also examined the expression of hMSH2/hMLH1 of DNA mismatch repair genes by immunohistochemistry, and promoter hypermethylation of these DNA mismatch repair genes by methylation-specific polymerase chain reaction (MS-PCR) to elucidate any possible association between mutation status of these genes and inactivation of the hMSH2/hMLH1 genes. Furthermore, microsatellite instability (MSI) analysis and loss of heterozygosity (LOH) on chromosome 5q analysis were used for some cases of ASPS where DNA derived from normal tissue was available. The 5-year overall survival rate for all of the patients in this study was 68.6%. The 5-year overall survival rates for patients presenting with localized ASPS and for patients with distant metastases were 83.3% and 47.6%, respectively. The high nuclear grade of tumor cells was a significantly adverse prognostic factor (P = 0.0085). Single-strand conformation polymorphism analysis followed by DNA direct sequencing revealed 4 point mutations of the p53 gene in 3 of 11 cases (27.3%), composed of 3 missense mutations and 1 silent mutation. In addition, 1 case with the E-cadherin missense mutation and 1 case with the APC missense mutations were observed, respectively. None of the cases harbored mutation of exon 3 of the beta-catenin gene. Loss of expression of the hMSH2 and hMLH1 genes was observed in 2 (18.2%) and 3 (27.3%) of 11 cases, respectively. All 3 cases with loss of hMLH1 gene expression harbored mutations of the p53 gene. There was a statistically significant correlation between the genetic alteration positive in these tumor-suppressor genes and loss of hMLH1 gene expression (P = 0.024). Methylation-specific PCR did not reveal hypermethylation of the hMSH2/hMLH1 promoter region in any of the cases examined. Three of 8 (37.5%) ASPS cases showed low MSI, and 2 of these 3 cases showed immunohistochemical lack of expression for either hMSH2 or hMLH1. LOH on 5q was present in 2 of 6 (33.3%) informative cases, and both cases showed LOH on the D5S346 marker, a microsatellite marker near the APC locus. Thus, inactivation of hMSH2/hMLH1 of DNA mismatch repair genes seems to have an important role to play in the mutagenesis of the tumor-suppressor genes in ASPS.
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PMID:Possible association between tumor-suppressor gene mutations and hMSH2/hMLH1 inactivation in alveolar soft part sarcoma. 1456 78


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