t(4;19)(q35;q13.1): A recurrent change in primitive mesenchymal tumors?

Richkind, Kathleen E.; Romansky, Stephen G.; Finklestein, Jerry Z.

doi:10.1016/0165-4608(95)00240-5

Cited by 68 publications

(49 citation statements)

References 11 publications

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“…Recently, several groups have identified a novel subcategory of sarcoma with primitive round cell morphology and recurrent translocations involving chromosomes 4q35 and 19q13 [11,[14][15][16] (Table 4). One such study determined that, in 2 cases, this rearrangement resulted in the fusion of the CIC gene on chromosome 19q13.1 and the DUX4 gene on chromosome 4q35 [16].…”

Section: Discussionmentioning

confidence: 99%

“…Morphologically, most of these tumors have a primitive round to plump spindle cell phenotype; however, a small percentage of USTSs exhibit a pure spindled/myxoid phenotype that likely represents a different entity [5,9]. Recent case reports have linked tumors of primitive round cell morphology with a translocation involving 4q35 and 19q13.1 [11,[14][15][16]. In 4 such tumors, molecular and cytogenetic analyses determined that the translocation between 19q13.1 and 4q35 resulted in the fusion of the CIC gene on chromosome 19 and the DUX4 gene on chromosome 4 [11,16].…”

Section: Introductionmentioning

confidence: 96%

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The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas

Graham¹,

Chilton‐MacNeill²,

Zieleńska³

et al. 2012

Human Pathology

160

119

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 96%

The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas

Graham¹,

Chilton‐MacNeill²,

Zieleńska³

et al. 2012

Human Pathology

160

119

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“…Mitoses and apoptoses were abundant (Figs. [3][4][5]. A periodic acid-Schiff stain with and without diastase treatment demonstrated abundant glycogen in the cytoplasm of the tumor cells.…”

Section: Pathologic Findingsmentioning

confidence: 98%

Translocation (4;19)(q35;q13.1)–Associated Primitive round Cell Sarcoma: Report of a Case and Review of the Literature

et al. 2008

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We report the 4th case of a primitive round cell sarcoma with the translocation (4;19)(q35;q13.1) as the primary cytogenetic abnormality. This undifferentiated sarcoma shows some features of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET), including a diffuse reactivity for FLI1, but it shows only focal and weak reactivity for CD99 and is negative for a rearrangement of EWS, the molecular signature of ES/PNET. Recognition of the histopathologic and cytogenetic features of this entity is necessary to avoid its misdiagnosis as ES/PNET, especially in small biopsy samples.

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“…The authors mentioned that a similar translocation had also been reported as part of complex karyotype in an embryonal rhabdomyosarcoma (RMS) cell line [2] and as part of a three-way translocation t(4;19;12)(q35;q13.1;q13) in an undifferentiated/embryonal RMS [3] and suggested that it might be a recurrent chromosomal aberration in malignant primitive mesenchymal stem cells [1]. Sommers et al [4] described a subcutaneous primitive neuroectodermal tumor/Ewing sarcoma without EWSR1 rearrangement but with a complex karyotype containing a t(4;19)(q33∼35;q13).…”

Section: Introductionmentioning

confidence: 93%

“…The translocation t(4;19)(q35;q13) was described by Richkind et al [1] as the sole chromosomal aberration in a tumor diagnosed as poorly differentiated extraskeletal mesenchymal sarcoma in a 12-year-old-boy. The authors mentioned that a similar translocation had also been reported as part of complex karyotype in an embryonal rhabdomyosarcoma (RMS) cell line [2] and as part of a three-way translocation t(4;19;12)(q35;q13.1;q13) in an undifferentiated/embryonal RMS [3] and suggested that it might be a recurrent chromosomal aberration in malignant primitive mesenchymal stem cells [1].…”

Section: Introductionmentioning

confidence: 96%

The “Grep” Command But Not FusionMap, FusionFinder or ChimeraScan Captures the CIC-DUX4 Fusion Gene from Whole Transcriptome Sequencing Data on a Small Round Cell Tumor with t(4;19)(q35;q13)

et al. 2014

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Whole transcriptome sequencing was used to study a small round cell tumor in which a t(4;19)(q35;q13) was part of the complex karyotype but where the initial reverse transcriptase PCR (RT-PCR) examination did not detect a CIC-DUX4 fusion transcript previously described as the crucial gene-level outcome of this specific translocation. The RNA sequencing data were analysed using the FusionMap, FusionFinder, and ChimeraScan programs which are specifically designed to identify fusion genes. FusionMap, FusionFinder, and ChimeraScan identified 1017, 102, and 101 fusion transcripts, respectively, but CIC-DUX4 was not among them. Since the RNA sequencing data are in the fastq text-based format, we searched the files using the “grep” command-line utility. The “grep” command searches the text for specific expressions and displays, by default, the lines where matches occur. The “specific expression” was a sequence of 20 nucleotides from the coding part of the last exon 20 of CIC (Reference Sequence: NM_015125.3) chosen since all the so far reported CIC breakpoints have occurred here. Fifteen chimeric CIC-DUX4 cDNA sequences were captured and the fusion between the CIC and DUX4 genes was mapped precisely. New primer combinations were constructed based on these findings and were used together with a polymerase suitable for amplification of GC-rich DNA templates to amplify CIC-DUX4 cDNA fragments which had the same fusion point found with “grep”. In conclusion, FusionMap, FusionFinder, and ChimeraScan generated a plethora of fusion transcripts but did not detect the biologically important CIC-DUX4 chimeric transcript; they are generally useful but evidently suffer from imperfect both sensitivity and specificity. The “grep” command is an excellent tool to capture chimeric transcripts from RNA sequencing data when the pathological and/or cytogenetic information strongly indicates the presence of a specific fusion gene.

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t(4;19)(q35;q13.1): A recurrent change in primitive mesenchymal tumors?

Cited by 68 publications

References 11 publications

The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas

The CIC-DUX4 fusion transcript is present in a subgroup of pediatric primitive round cell sarcomas

Translocation (4;19)(q35;q13.1)–Associated Primitive round Cell Sarcoma: Report of a Case and Review of the Literature

The “Grep” Command But Not FusionMap, FusionFinder or ChimeraScan Captures the CIC-DUX4 Fusion Gene from Whole Transcriptome Sequencing Data on a Small Round Cell Tumor with t(4;19)(q35;q13)

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