Cytogenetic findings in malignant triton tumor

Travis, Joni A.; Bridge, Julia A.; Neff, James R.; Sandberg, Avery A.

doi:10.1002/gcc.2870090102

Cited by 25 publications

(21 citation statements)

References 41 publications

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“…The translocation (X;18) has apparently escaped detection in most, but not all (51), of the limited number of MPNST karyotypes reported to date, which have shown an inconsistent and remarkably complex array of cytogenetic abnormalities (55)(56)(57)(58)(59). Discrepancies between the results of standard cytogenetic analysis and RT-PCR have, however, been demonstrated for t(X;18).…”

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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“…Karyotypic studies 103,162,277,283 and three SKY studies 39,96,155 have revealed that these tumors possess karyotypic characteristics similar to malignant schwannomas. In most cases, structural aberrations involved chromosomes 7, 8, 17, and 22.…”

Section: Tumors Of Cranial and Spinal Nervesmentioning

confidence: 99%

Molecular cytogenetic analysis in the study of brain tumors: findings and applications

Bayani¹,

Pandita²,

Squire³

2005

FOC

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Classic cytogenetics has evolved from black and white to technicolor images of chromosomes as a result of advances in fluorescence in situ hybridization (FISH) techniques, and is now called molecular cytogenetics. Improvements in the quality and diversity of probes suitable for FISH, coupled with advances in computerized image analysis, now permit the genome or tissue of interest to be analyzed in detail on a glass slide. It is evident that the growing list of options for cytogenetic analysis has improved the understanding of chromosomal changes in disease initiation, progression, and response to treatment. The contributions of classic and molecular cytogenetics to the study of brain tumors have provided scientists and clinicians alike with new avenues for investigation. In this review the authors summarize the contributions of molecular cytogenetics to the study of brain tumors, encompassing the findings of classic cytogenetics, interphase- and metaphase-based FISH studies, spectral karyotyping, and metaphase- and array-based comparative genomic hybridization. In addition, this review also details the role of molecular cytogenetic techniques in other aspects of understanding the pathogenesis of brain tumors, including xenograft, cancer stem cell, and telomere length studies.

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“…A literature review using Medline was performed to find reports of cytogenetic studies of MPNSTs and 44 cases, including 4 malignant triton tumors, with abnormal karyotypes were found (Jhanwar et al, 1994;Sciot et al, 1995;Rao et al, 1996;Travis et al, 1994;McComb et al, 1996;Mertens et al, 1995a,b;Orndal et al, 1994;Rey et al, 1993;Fletcher et al, 1991;Glover et al, 1991;Decker et al, 1990;Riccardi and Elder, 1986;Becher et al, 1984). The patients comprised 20 males and 24 females ranging in age from 2 to 82 years; 25 were reported to have a history of neurofibromatosis type-1, while the NF-1 status of 9 patients was unclear.…”

Section: Methodsmentioning

confidence: 99%

“…Relative loss of chromosomal material in NF-1-associated MPNSTs as compared with sporadic MPNSTs was found in 1p3, 4p1 and 21p1-q2. Relative loss of chromosomal material in sporadic MPNSTs as Glover et al (1991) 1 1 ND Not reported Rey et al (1993) 1 1 ND Uncertain Jhanwar et al (1994) 10 9 ϩ 2 Not reported Orndal et al (1994) 1 1 ϩ Not reported Travis et al (1994) 2 0 ϩ Not reported Mertens et al (1995a) 1 ? ϩ Not reported Mertens et al (1995b) 7 4 ϩ Not reported Sciot et al (1995) 1 ?…”

Section: Nf-1-associated Vs Sporadic Mpnstsmentioning

confidence: 99%

“…About 10% of all NF-1 patients develop a MPNST at a mean age of 30 years, and the 5-year overall survival rate is 44% (Doorn et al, 1995;Enzinger and Weiss, 1995). Earlier cytogenetic studies on MPNSTs have revealed no consistent karyotypic pattern (Fletcher et al, 1991;Becher et al, 1984;Sciot et al, 1995;Riccardi and Elder, 1986;Glover et al, 1991;Rao et al, 1996;Mertens et al, 1995a,b;Decker et al, 1990;Jhanwar et al, 1994;McComb et al, 1996;Orndal et al, 1994;Travis et al, 1994;Rey et al, 1993). Since most karyotypes of MPNSTs are highly complex and difficult to interpret, studies focusing on common chromosome abnormalities are cumbersome.…”

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confidence: 99%

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Computer-assisted cytogenetic analysis of 51 malignant peripheral-nerve-sheath tumors: SporadicVs. neurofibromatosis-type-1-associated malignant schwannomas

et al. 1999

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Cytogenetic findings in malignant triton tumor

Cited by 25 publications

References 41 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

Molecular cytogenetic analysis in the study of brain tumors: findings and applications

Computer-assisted cytogenetic analysis of 51 malignant peripheral-nerve-sheath tumors: SporadicVs. neurofibromatosis-type-1-associated malignant schwannomas

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