Aberrations of chromosome 22 and polysomy of chromosome 8 as non-random changes in clear cell sarcoma

Limon, Janusz; Dębiec‐Rychter, Maria; Nedoszytko, Bogusław; Liberski, Paweł P.; Babińska, Małgorzata; Szadowska, A

doi:10.1016/0165-4608(94)90130-9

Cited by 23 publications

(17 citation statements)

References 17 publications

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“…Some of the CCS had been previously characterized clinically, histologically, cytogenetically, and (partially) molecularly . FISH analyses showed EWSR1 rearrangement in six CCS (all primary tumors) and gain of chromosomes 22 and 8 in the remaining five (two primary and three metastatic tumors; Limon et al, 1994;Patel et al, 2005;Song et al, 2010). In accordance with the literature, a chromosome 22 gain was defined as the presence of >2 EWSR1 copies in >40% of cells, and a chromosome 8 gain as the presence of three copies in !40% of cells.…”

Section: Frozen and Ffpe Materialsmentioning

confidence: 96%

“…However, as they bear the t(12;22) translocation resulting in the EWSR1-ATF1 fusion, they are thought to be different from metastatic melanomas (MM), and the term CCS has gained wider acceptance (Zucman et al, 1993). Notably, a considerable number of cases lack EWSR1 rearrangements and have been reported to bear structural and numerical aberrations of chromosomes 22 and 8 (Limon et al, 1994).…”

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confidence: 97%

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Receptor tyrosine kinase pathway analysis sheds light on similarities between clear‐cell sarcoma and metastatic melanoma

Negri

Brich

Conca

et al. 2011

Genes Chromosomes & Cancer

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To highlight possible similarities and differences in receptor tyrosine kinase (RTK) and downstream signalling activation profiles between clear-cell sarcomas (CCS) and metastatic melanomas (MM), frozen, and paired-matched fixed samples of six CCS with EWSR1 rearrangement (EWSR1+), five CCS without EWSR1 rearrangement (EWSR1-), and seven MM were investigated by means of biochemical, immunohistochemical, FISH, molecular analyses, and immunofluorescence confocal microscopy. Fixed samples of a further 10 CCS and 14 MM were investigated by means of sequencing for BRAF, NRAS, and KRAS mutations and FISH analyses for the gain of chromosomes 22 and 8. RTK analysis of all CCS/MM samples showed activation of short-form (sf) recepteur d'origine nantais (RON) RTK and of PDGFRB, MET, and HER3. Analysis of downstream signaling revealed consistent phosphorylation patterns of PI3K/AKT, RSK, and the mTOR targets S6 and 4EBP1. Analysis of frozen and fixed material from 21 CCS and 21 MM showed the presence of the V600E BRAF mutation in 2/12 EWSR1+ and 3/9 EWSR1- CCS and 9/21 MM and demonstrated a significant (P < 0.001) correlation between the gain of chromosomes 22 and 8 and EWSR1- CCS. Our results show that BRAF mutation can also be present in CCS and support the proposed aberration of chromosomes 22 and 8 as a possibly useful nonrandom hallmark of EWSR1- CCS. Besides, they broaden the spectrum of the similarities of RTK pathway activation between CCS and MM, thus suggesting that new drugs found to be active in melanoma and RON inhibitors could have a role in CCS treatment. © 2011 Wiley Periodicals, Inc.

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Section: Frozen and Ffpe Materialsmentioning

confidence: 96%

mentioning

confidence: 97%

Receptor tyrosine kinase pathway analysis sheds light on similarities between clear‐cell sarcoma and metastatic melanoma

Negri

Brich

Conca

et al. 2011

Genes Chromosomes & Cancer

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“…Cytogenetic analysis of CCS has identified the presence of an apparently tumour-specific balanced translocation involving chromosomes 12 and 22 in more than 50% of cases (Epstein et al, 1984;Bridge et al, 1990Bridge et al, , 1991Peulvé et al, 1991;Fletcher, 1992;Reeves et al, 1992;Rodriguez et al, 1992;Speleman et al, 1992;Stenman et al, 1992;Travis and Bridge, 1992;Mrozek et al, 1993;Limon et al, 1994;Zucman et al, 1993;Nedoszytko et al, 1996;Speleman et al, 1997;Graadt van Roggen et al, 1998). This translocation results in the fusion of a portion of the Activating Transcription Factor gene (ATF-1) on the long arm of chromosome 12(12q13.1-13.2) and the Ewing's sarcoma oncogene (EWS) on chromosome 22 (22q13) (Zucman et al, 1993).…”

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confidence: 99%

Malignant melanoma is genetically distinct from clear cell sarcoma of tendons and aponeurosis (malignant melanoma of soft parts)

et al. 2001

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Summary Clear cell sarcoma of tendons and aponeuroses (malignant melanoma of soft parts) and conventional malignant melanoma may demonstrate significant morphologic overlap at the light microscopic and ultrastructural level. Consequently, the clinically relevant distinction between primary clear cell sarcoma and metastatic melanoma in the absence of a known primary cutaneous, mucosal or ocular tumour may occasionally cause diagnostic problems. A balanced translocation, t(12;22)(q13;q13), which can be detected, amongst others, using the reverse transcriptase polymerase chain reaction (RT-PCR) or fluorescent in situ hybridization (FISH), has been identified in a high percentage (50-75%) of clear cell sarcomas and is presumed to be tumour specific. Whether this chromosomal rearrangement is present in malignant melanoma has, to date, not as yet been studied by molecular genetic or molecular cytogenetic techniques. Using RT-PCR and FISH, a series of metastases from 25 known cutaneous melanomas and 8 melanoma cell lines (5 uveal and 3 cutaneous) were screened for the t(12;22)(q13;q13) translocation. Primers for RT-PCR were chosen based upon published breakpoint sequences. The Cosmids G9 and CCS2.2, corresponding to the 5′ region of EWS and 3′ region of ATF-1 respectively, were used as probes. The translocation was not identified in any of the melanomas or melanoma cell lines analysed in this study; in contrast this translocation was identified in 3 out of 5 clear cell sarcomas using these techniques. This allows distinction between translocation positive cases of clear cell sarcoma and malignant melanoma at a molecular genetic level. Consequently, in diagnostically challenging cases, this represents a valuable tool for the clinicopathologic differentiation between these two entities, with an important impact on patient management and prognosis.

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“…The characteristic microscopic pattern includes: epithelioid cellular appearance with clear cytoplasm; clear nuclei with dispersed chromatin; homogeneous growth pattern; scarce mitotic figures; absence of intracellular mucin; presence of intracellular glycogen or melanosomes; and abundant collagen fibres in the extracellular spaces [2,3,9,10]. Recently, a primary chromosomal aberration (translocation 12;22) has been described in the majority (65%) of those cases [11].…”

Section: Discussionmentioning

confidence: 99%

Clear cell sarcoma: an extremely rare cause of pleural disease

et al. 1997

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Aberrations of chromosome 22 and polysomy of chromosome 8 as non-random changes in clear cell sarcoma

Cited by 23 publications

References 17 publications

Receptor tyrosine kinase pathway analysis sheds light on similarities between clear‐cell sarcoma and metastatic melanoma

Receptor tyrosine kinase pathway analysis sheds light on similarities between clear‐cell sarcoma and metastatic melanoma

Malignant melanoma is genetically distinct from clear cell sarcoma of tendons and aponeurosis (malignant melanoma of soft parts)

Clear cell sarcoma: an extremely rare cause of pleural disease

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