Cytogenetic analysis of a malignant triton tumor and a malignant peripheral nerve sheath tumor and a review of the literature

McComb, Erin N.; McComb, Rodney D.; DeBoer, Joanne M.; Neff, James R.; Bridge, Julia A.

doi:10.1016/s0165-4608(96)00125-2

Cited by 45 publications

(35 citation statements)

References 17 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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“…The recurrent gains of chromosome 1q, 5p, 6p, 7, 8q, 12, 13q, 15 and 17q the most frequent losses of chromosomes 1p, 9p, 11p, 17p and 17q have been reported (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18). Loss of chromosome 9p is the most common feature in MPNST.…”

Section: Discussionmentioning

confidence: 99%

“…The gain in chromosome 4q detected by CGH analysis has been reported previously in peripheral nerve sheath tumors (18); however, the relationship between the aberration of 4q and pathogenesis in MPNST is not clarified. Although the gain in 8q occurs frequently in sporadic and NF1-associated MPNST, it also occurs in various kinds of malignant solid tumors (10,12,17,26,27). The gain of 8q might therefore be associated with malignant tumor progression rather than the pathogenesis of MPNST.…”

Section: Discussionmentioning

confidence: 99%

“…Their chromosome ploidy distributes between hypodiploid and tetraploid, some tumors have been described as hypodiploid (3)(4)(5)(6)(7)(8). Regardless of ploidy range, however, karyotypes of MPNST exhibit complex abnormalities with numerical and structural changes (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). Cytogenetic aberrations on chromosomes 1, 2, 5, 7-9, 11-14, 17, 18 and 22 were found to be the most frequent, although no consistent karyotypic patterns have been detected (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18).…”

Section: Introductionmentioning

confidence: 99%

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A cytogenetic analysis in two cases of malignant peripheral nerve sheath tumor showing hypodiploid karyotype

Ishiguro

Iwasaki²,

Takeshita³

et al. 2006

Oncol Rep

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Abstract. In this study, we report cytogenetic findings in two cases of malignant peripheral nerve sheath tumor (MPNST) with hypodiploid karyotypes. A G-band technique, multicolor fluorescence in situ hybridization (m-FISH) and comparative genomic hybridization (CGH) were used and compared in this investigation. In both tumors, the G-band and m-FISH analysis demonstrated multiple rearrangements on chromosomes 1-5, 8-12, 15-17, 20 and 21, whereas CGH exhibited gains at 8q and 4q. Both of the structural aberrations and the genomic imbalances of the chromosomes may play an important role in the pathogenesis and development of MPNST. No cytogenetic abnormalities specific for MPNST were found in the present cases or in other previously reported cases. This may reflect the diversity or heterogeneity of MPNST that exhibit various clinical and histological features. However, there are few cases described in detail on a morphologic pattern of MPNST, a correlation between the cytogenetic aberrations and the histologic patterns are still uncertain.

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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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Cytogenetic analysis of a malignant triton tumor and a malignant peripheral nerve sheath tumor and a review of the literature

Cited by 45 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

A cytogenetic analysis in two cases of malignant peripheral nerve sheath tumor showing hypodiploid karyotype

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

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