Masked t(X;18)(p11;q11) in a biphasic synovial sarcoma revealed by FISH and RT-PCR

Kessel, Ad Geurts van; Bruijn, Diederik de; Hermsen, L.; Janssen, Irene M.; Santos, Nuno; Willems, Riki W.; Makkus, L.; Schreuder, H.W.B.; Veth, R. P. H.

doi:10.1002/(sici)1098-2264(199810)23:2<198::aid-gcc15>3.0.co;2-k

Cited by 22 publications

(5 citation statements)

References 17 publications

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“…Sorensen and Triche reported a case of SS in which RT-PCR and fluorescent in situ hybridization detected t(X;18) that was not identified by cytogenetics (60). A so-called masked translocation was found in another case of SS (61) in which a second reverse translocation obscured the t(X;18) on karyotypic analysis, yet another example of RT-PCR or fluorescent in situ hybridization as more sensitive methods for detecting a translocation than standard metaphase cytogenetics. In more general terms, the period of in vitro cell culture preceding cytogenetic analysis may favor tumor cell clones harboring specific chromosomal abnormalities, resulting in a karyotype that reflects an in vitro growth advantage rather than a genetic abnormality representative of the major clone in vivo.…”

Section: Discussionmentioning

confidence: 99%

Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study

et al. 2000

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Spindle cell sarcomas often present the surgical pathologist with a considerable diagnostic challenge. Malignant peripheral nerve sheath tumor, leiomyosarcoma, fibrosarcoma, and monophasic synovial sarcoma may all appear similar histologically. The application of ancillary diagnostic modalities, such as immunohistochemistry and electron microscopy, may be helpful in the differentiation of these tumors, but in cases in which these adjunctive techniques fail to demonstrate any more definitive evidence of differentiation, tumor categorization may remain difficult. Cytogenetic and molecular genetic characterization of tumors have provided the basis for the application of molecular assays as the newest components of the diagnostic armamentarium. Because the chromosomal translocation t(X;18) has been observed repeatedly in many synovial sarcomas, it has been heralded as a diagnostic hallmark of synovial sarcoma. To formally test the specificity of this translocation for the diagnosis of synovial sarcoma, RNA extracted from formalin-fixed, paraffin-embedded tissue from a variety of soft tissue and spindle cell tumors was evaluated for the presence of t(X;18) by reverse transcriptasepolymerase chain reaction. Although 85% of the synovial sarcomas studied demonstrated t(X;18), 75% of the malignant peripheral nerve sheath tumors in our cohort also demonstrated this translocation. We conclude that the translocation t(X;18) is not specific to synovial sarcoma and discuss the implications of the demonstration of t(X;18) in a majority of malignant peripheral nerve sheath tumors.KEY WORDS: Chromosomal translocation; malignant peripheral nerve sheath tumor; specificity; synovial sarcoma; t(X;18).

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Section: Discussionmentioning

confidence: 99%

Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study

et al. 2000

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“…Others have also reported synovial sarcomas with normal karyotypes by conventional cytogenetics that harbored cryptic translocations. 27 This is in no way surprising, since molecular translocation of the Philadelphia chromosome in chronic myelogenous leukemia is well-accepted. Although translocation t(X;18) is not found in 10% of synovial sarcomas, virtually 100% of these tumors have detectable chimeric transcripts by RT-PCR.…”

Section: Discussionmentioning

confidence: 99%

“…Although translocation t(X;18) is not found in 10% of synovial sarcomas, virtually 100% of these tumors have detectable chimeric transcripts by RT-PCR. 27 Therefore, it is not impossible for these Ewing sarcoma and synovial sarcoma cell strains to lack chromosomal translocation when evaluated by conventional cytogenetic methods. Although neither the t(11;22) nor the t(X;18) were observed in the current study, it remains possible that there are cryptic translocations of the EWS1 gene or the SYT gene at the molecular level.…”

Section: Discussionmentioning

confidence: 99%

Characterization of 11 human sarcoma cell strains

Nicolson

Trent

et al. 2002

Cancer

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BACKGROUNDHuman sarcomas have a propensity for aggressive local invasion and early pulmonary metastasis. Frequently, deaths are due to uncontrolled pulmonary metastases. The purpose of the current study was to evaluate cytogenetics, tumorigenicity, metastatic potential, and production of angiogenic factors in human sarcoma cell strains. A secondary purpose was to establish low passage cell strains for studying new therapeutic approaches.METHODSThe authors established 11 cell strains from human sarcoma surgical specimens and characterized their in vitro tumor properties, including growth in soft agar, expression of angiogenic growth factors (vascular endothelial growth factor [VEGF] and basic‐fibroblast growth factor [bFGF]), and cytogenetics.RESULTSAll of the cell strains remained diploid. All exhibited the ability to grow in soft agar and expressed both VEGF as well as bFGF. In addition, 6 of the 11 established sarcoma cell strains were tumorigenic, 5 of which spontaneously metastasized to the lungs in nude mice. Four of the five cell strains that yielded lung metastases were derived from lung metastases in patients.CONCLUSIONSThe 11 cell strains, which were derived from diverse sarcoma histologies, will provide a model for studying not only metastatic progression but also the in vitro and in vivo efficacy of new therapeutic modalities for human sarcomas. Cancer 2002;95:1569–76. © 2002 American Cancer Society.DOI 10.1002/cncr.10879

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“…8). [73][74][75][76][77] In addition, Storlazzi et al found the rearrangement of SS18L1 on chromosome 20 and SSX1 on the X chromosome, resulting in a new fusion gene SS18L1-SSX1. The genomic organization of SS18L1 highly resembles that of SS18 (e.g.…”

Section: Sarcomas With Specific Genetic Alterationsmentioning

confidence: 99%

Pathology of soft‐tissue tumors: Daily diagnosis, molecular cytogenetics and experimental approach

Iwasaki¹,

Nabeshima²,

Nishio

et al. 2009

Pathology International

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Masked t(X;18)(p11;q11) in a biphasic synovial sarcoma revealed by FISH and RT-PCR

Cited by 22 publications

References 17 publications

Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study

Malignant Peripheral Nerve Sheath Tumors with t(X;18). A Pathologic and Molecular Genetic Study

Characterization of 11 human sarcoma cell strains

Pathology of soft‐tissue tumors: Daily diagnosis, molecular cytogenetics and experimental approach

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