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At least 181 records · Page 10Linked to original sources
PubMed1993

Clear cell sarcoma of the kidney expresses insulinlike growth factor-II but not WT1 transcripts.

Two cases of clear cell sarcoma of the kidney (CCSK), five Wilms' tumors (WTs), and three fetal kidneys were studied by molecular hybridization to elucidate the histogenesis of CCSK. Northern blot and in situ hybridization demonstrated that all the CCSKs, WTs, and fetal kidneys contained abundant insulinlike growth factor-II (IGF-II) transcripts, whereas WTs and fetal kidneys--but not CCSKs--showed significant expression of WT1 gene, a candidate tumor suppressor gene implicated in the etiology of WTs. Comparative analysis of in situ hybridization of IGF-II and WT1 transcripts in CCSKs and fetal kidneys revealed that CCSK cells showed similar hybridization patterns to primitive metanephrogenic blastemal cells and early stromagenic cells. The data strongly suggest that CCSK is distinct from WT and may be derived from undifferentiated metanephrogenic blastemal cells with potential to differentiate into a stromal cell lineage. The result also suggests that this unique tumor should, more appropriately, be known as stromal--rather than clear--cell sarcoma of the kidney.

Adolescent↗
PubMed2002

Molecular diagnosis of clear cell sarcoma: detection of EWS-ATF1 and MITF-M transcripts and histopathological and ultrastructural analysis of 12 cases.

Clear cell sarcoma (CCS), also known as melanoma of soft parts, is an uncommon deep soft tissue tumor presenting typically in the lower extremities of young adults. Previous cytogenetic studies have established the specificity of the recurrent t(12;22)(q13;q12), resulting in a EWS-ATF1 fusion, for CCS. The prevalence of the EWS-ATF1 fusion in CCS remains unclear, since most genetically confirmed CCS have been reported as isolated cytogenetic or molecular diagnostic case reports. We therefore studied histologically confirmed CCS from 12 patients for the presence of EWS-ATF1 by reverse-transcriptase polymerase chain reaction (RT-PCR), using RNA extracted from either frozen (four cases) or formalin-fixed paraffin-embedded (eight cases) material. All primary tumors were located in the deep soft tissues of the extremities. Histologically, 10 cases had a typical epithelioid nested appearance. Most or all cases showed immunostaining for HMB45 (12 of 12), S-100 protein (10 of 12), and MITF (12 of 12). Ultrastructural analysis showed melanosomes in six of seven cases. The presence of an EWS-ATF1 fusion transcript was identified by RT-PCR in 11 of 12 cases (91%), all of which showed the same fusion transcript structure, namely the previously described in-frame fusion of EWS exon 8 to ATF1 codon 65. RT-PCR analysis for the melanocyte-specific splice form of the MITF transcript was positive in all cases tested (4 of 4). These data confirm that EWS-ATF1 detection can be used as a highly sensitive diagnostic test for CCS and that CCS expresses the melanocyte-specific form of the MITF transcript, further supporting its genuine melanocytic differentiation.

Adult↗
PubMed2002

Clear-cell sarcoma diagnosis by fine-needle aspiration: cytologic, histologic, and ultrastructural features; potential pitfalls; and literature review.

A definitive diagnosis of clear-cell sarcoma of soft parts (CCSSP) is possible by fine-needle aspiration (FNA) biopsy alone. The aspirates are markedly cellular, consisting predominantly of discohesive cells but also of cohesive cells. The cytoplasm is eosinophilic and eccentric. The nuclei are round and contain macronucleoli. CCSSP should be considered when FNA of a soft-tissue tumor shows uncharacteristically high cellularity and relatively uniform cells with macronucleoli. Cohesion of some tumor cells does not rule out CCSSP. Melanin pigment and cytoplasmic clearing are infrequent and not necessary for the diagnosis. Sufficient material should always be procured for immunohistochemical studies on the cell block. Seven other cases are found in the literature, all correctly diagnosed by FNA. Although it is rare, CCSSP is a highly malignant tumor that can be diagnosed readily by FNA without resorting to incisional biopsy.

Adult↗
PubMed2003

Classification of clear-cell sarcoma as a subtype of melanoma by genomic profiling.

PURPOSE: To develop a genome-based classification scheme for clear-cell sarcoma (CCS), also known as melanoma of soft parts (MSP), which would have implications for diagnosis and treatment. This tumor displays characteristic features of soft tissue sarcoma (STS), including deep soft tissue primary location and a characteristic translocation, t(12;22)(q13;q12), involving EWS and ATF1 genes. CCS/MSP also has typical melanoma features, including immunoreactivity for S100 and HMB45, pigmentation, MITF-M expression, and a propensity for regional lymph node metastases. MATERIALS AND METHODS: RNA samples from 21 cell lines and 60 pathologically confirmed cases of STS, melanoma, and CCS/MSP were examined using the U95A GeneChip (Affymetrix, Santa Clara, CA). Hierarchical cluster analysis, principal component analysis, and support vector machine (SVM) analysis exploited genomic correlations within the data to classify CCS/MSP. RESULTS: Unsupervised analyses demonstrated a clear distinction between STS and melanoma and, furthermore, showed that CCS/MSP cluster with the melanomas as a distinct group. A supervised SVM learning approach further validated this finding and provided a user-independent approach to diagnosis. Genes of interest that discriminate CCS/MSP included those encoding melanocyte differentiation antigens, MITF, SOX10, ERBB3, and FGFR1. CONCLUSION: Gene expression profiles support the classification of CCS/MSP as a distinct genomic subtype of melanoma. Analysis of these gene profiles using the SVM may be an important diagnostic tool. Genomic analysis identified potential targets for the development of therapeutic strategies in the treatment of this disease.

Algorithms↗
PubMedDate not supplied

[Clear-cell sarcoma of the kidney: the clinico-morphological, immunohistochemical and electron microscopic study of 22 cases].

22 cases of clear cell sarcoma of the kidney (CCSK) were studied, 15 of them ultrastructurally and 7--immunohistochemically. CCSK is a rare malignant tumour of children, predominantly males, with an involvement of one kidney and frequent multiple metastases to the bones. Typical, epithelioid-trabecular, hyalinizing, cystic and myxoid variants are distinguished at the light microscopic level. As vimentin was found in tumour cells in all cases, antibodies against vimentin and cytokeratin can be recommended for differential diagnosis between CCSK and Wilms tumour and rhabdoid tumour. Peculiar vascular pattern can be revealed by means of antibodies against factor VIII. Immunohistochemical properties (presence of vimentin) and electron microscopy allow suggesting histogenic relation of CCSK with pericytes.

Adolescent↗
PubMed1999

Melanotic peritoneal sarcomatosis originating from clear cell sarcoma.

Peritoneal sarcomatosis was found in a 53-year-old male who had a history of resection of clear cell sarcoma (CCS) of the right wrist 7 years previously. Both the previous wrist tumor and the peritoneal disseminants consisted of small, spindle-shaped cells occasionally containing melanophages. Histologic features, histochemical demonstration of argentaffin granules, immunohistochemical reaction with HMB 45, and the demonstration of a chimeric transcript of EWS-ATF-1 established the diagnosis of CCS in the peritoneal tumors. As far as we are aware, this is the first case of a peritoneal sarcomatosis associated with CCS.

Antigens, Neoplasm↗
PubMed1993

[A case of renal clear cell sarcoma in a child with tuberous sclerosis].

A 10-year-old girl with sclerosis tuberosa was admitted to the Children's Health Centre for febrile states of unclear origin. Ultrasonography revealed the presence of renal tumour of clear cell sarcoma character in histopathological examination. Despite nephrectomy the child died several weeks after the operation. The authors pay attention to the fact that both clear cell sarcoma and most lesions observed in sclerosis tuberosa have common origin from the nervous crest so their coexistence seems no accidental. In view of the observed in sclerosis tuberosa proneness to neoformation, the authors stress the necessity of periodical examinations of the brain and internal organs, mainly kidneys and liver.

Child↗
PubMed1996

Newly established MST-1 tumour cell line and tumour-infiltrating lymphocyte culture from a patient with soft tissue melanoma (clear cell sarcoma) and their potential applications to patient immunotherapy.

The establishment and characterisation of paired autologous tumour cell line (MST-1) and tumour-infiltrating lymphocyte (TIL) culture from a tumour mass of a 14-year-old Taiwanese girl with soft tissue melanoma are described. MST-1 cells grown in vitro were heterogeneous in morphology, ranging from floating round cells, loosely attached round/oval or elongated cells with prominent pseudopod-like processes, to well-attached spindle and elongated dendritic cells without obvious pseudopods. Immunostaining revealed that major melanoma-associated antigens, such as S100 protein, HMB-45, melanotransferrin, chondroitin sulphate proteoglycan, and the gangliosides GD2 and GD3, were consistently expressed by the tumour tissue, severe combined immunodeficiency (SCID) mouse xenograft and derived cell lines. Flow cytometric analysis of the tumour DNA content showed an index of 1.8 relative to normal peripheral blood lymphocyte DNA. Chromosome analysis revealed all cells at a hypotetraploid level with several clonal chromosome aberrations, including deletions at 10p and 12q, an addition at 12q, translocations t(1;14) and t(5;6). Electron microscopy showed melanosome structures. This observation and the expression of the major melanoma-associated antigens were all indicative of the melanocytic origin of MST-1 tumour. Interleukin-2 (IL-2) expanded TILs had the predominant CD8+ phenotype and the capacity to lyse cells of the cultured autologous tumour. The availability of the soft tissue melanoma cell line, the SCID mouse xenograft tumour system as well as autologous TILs described herein would provide useful materials for identifying T-cell-defined antigens as well as a model system for devising individualised cancer biotherapeutic strategies. This cell line can also be used for further studies aimed at uncovering the histogenesis of this rare cancer.

Adolescent↗