Interphase cytogenetic analysis of myxoid soft tissue tumors by fluorescence in situ hybridization and DNA flow cytometry using paraffin-embedded tissue

Aoki, Takatoshi; Hisaoka, Masanori; Kouho, Hiromi; Hashimoto, Hiroshi; Nakata, Hajime

doi:10.1002/(sici)1097-0142(19970115)79:2<284::aid-cncr12>3.0.co;2-x

Cited by 16 publications

(3 citation statements)

References 21 publications

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“…The majority of studies have involved either whole chromosome paints or centromeric probes. [32][33][34][35] Locus-specific probes have been used in paraffin material for the demonstration of the Philadelphia chromosome, 36,37 p53 abnormalities, 38 cERB2 and cMYC amplification in gastric tumors, 39,40 the t (11;14) in mantle cell lymphoma, 41,42 the t(14;18) in diffuse large B-cell lymphoma, 43 and more recently FISH on nuclei extracted from cores of tissue taken from paraffin blocks has been used to demonstrate a range of abnormalities. 44 The aim of the study was to develop a relatively simple and reproducible FISH method for the demonstration of chromosomal translocations in archival formalin-fixed, paraffin-embedded tissue.…”

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confidence: 99%

The Detection of t(14;18) in Archival Lymph Nodes

Barrans

Evans

O’Connor

et al. 2003

The Journal of Molecular Diagnostics

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Fluorescence in situ hybridization (FISH) has been used to demonstrate the t(14;18) in up to 100% of follicular lymphoma (FL) cases, however, there is little reproducible data using fixed tissue. The aim was therefore to develop a robust FISH method for the demonstration of translocations in archival tissue. The technique was evaluated by comparison with multiplex polymerase chain reaction (PCR), capable of detecting the majority of known breakpoints. Twenty-eight paired frozen and fixed cases of FL and 20 reactive controls were analyzed. The t(14;18) was detected in 23 of 28 cases using PCR on frozen material and 8 of 20 in paraffin. Using FISH, 24 of 26 frozen and 26 of 28 paraffin cases had a demonstrable translocation. All 20 reactive nodes were negative for the t(14;18) by PCR. Using FISH, one of the reactive cases had occasional cells with a translocation FISH pattern, demonstrable in frozen and paraffin samples. This is consistent with the presence of the t(14;18), which is well described in normal individuals. Both PCR and FISH are highly effective for t(14;18) analysis in unfixed tissue. When only paraffin blocks are available, FISH is the method of choice, and a result was achieved in 100% of cases. The method is applicable to the retrospective analysis of a range of translocations.

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confidence: 99%

The Detection of t(14;18) in Archival Lymph Nodes

Barrans

Evans

O’Connor

et al. 2003

The Journal of Molecular Diagnostics

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“…LGFMS with giant rosettes has been identified as a separate entity but there are arguments to consider them as same tumor with some varying features on microscopy [3,19]. In two LGFMS, no abnormal DNA content or chromosomal aberrations were noted but cytogenetic analysis revealed a ring chromosome in another report [20,21]. In the present case, the cells expressed vimentin but there was no immunoreactivity with other markers.…”

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confidence: 55%

Low grade fibromyxoid sarcoma of the falciform ligament: a case report

2003

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BackgroundLow grade fibromyxoid sarcomas (LGFMS) are very rarely seen. They commonly arise from deep soft tissues of the lower extremities. Very few cases of intra-abdominal location have been reported.Case presentationWe report a 37 year old man who presented with an abdominal mass and dragging pain. Pre-operative imaging suggested the possibility of a subcapsular hemangioma of liver.ConclusionsLaparoscopy was useful to locate the tumor as arising from falciform ligament and made the subsequent surgery simpler. This is one of the large fibromyxoid sarcomas to be reported.

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“…Only one tumor studied by banding cytogenetics and having an abnormal karyotype has been reported; the tumor had trisomy 18 as the sole anomaly [14]. Interphase cytogenetic analysis by fluorescent in situ hybridization and DNA flow cytometry showed a normal DNA content and no indication of numerical chromosome aberrations in the four intramuscular myxomas studied by Aoki et al [15]. …”

Section: Introductionmentioning

confidence: 99%

Karyotyping and analysis of GNAS locus in intramuscular myxomas

et al. 2017

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Intramuscular myxoma is a benign soft tissue tumor about which very limited genetic information exists. We studied 68 intramuscular myxomas by means of chromosome banding analysis finding abnormal karyotypes in 21 of them. The most clearly nonrandom involvement was of chromosome 8 which was found gained in seven tumors (+8 was the sole change in five myxomas) and structurally rearranged in another two. Since mutation of the gene GNAS (20q13) has been implicated in the pathogenesis of both solitary and hereditary multiple myxomas, we assessed the transcription and mutation status of this gene in five tumors from which we had suitable RNA. All five intramuscular myxomas expressed biallelic transcripts. The mutated GNAS allele found in one tumor was also biallelically transcribed. In none of the five myxomas were maternally expressed transcripts detected. Collectively, the data suggest that intramuscular myxomas have acquired genetic abnormalities that often include chromosome 8 changes but may also involve alterations of GNAS. To what extent these aberrations are pathogenetically important, remains uncertain.

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Interphase cytogenetic analysis of myxoid soft tissue tumors by fluorescence in situ hybridization and DNA flow cytometry using paraffin-embedded tissue

Abstract: FISH analysis performed on paraffin embedded materials can be used to differentiate myxoid liposarcomas from other myxoid soft tissue tumors.

Cited by 16 publications

References 21 publications

The Detection of t(14;18) in Archival Lymph Nodes

The Detection of t(14;18) in Archival Lymph Nodes

Low grade fibromyxoid sarcoma of the falciform ligament: a case report

Karyotyping and analysis of GNAS locus in intramuscular myxomas

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