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EWS Gene Fusions as Diagnostic Markers in Sarcomas: Principles and Guidelines

2025-03-18 细胞技术 加入收藏
Highly specrtic chromosomal translocations are found in several primitive sarcom

Highly specrtic chromosomal translocations are found in several primitive sarcomas (1 –3 ). Biologically, the breakpoints of these translocations involve various putative or confirmed transcription factor genes, some of which appear to participate in normal mesenchymal development and differentiation These genes are rearranged by the translocations, resulting in the formation of chimeric genes, encoding novel tumor-specific transcription factors that are presumed to disrupt normal differentiation and lead to sarcomagenesis. Several lines of evidence suggest that the fusion genes encoded by these translocations are likely to be either necessary or sufficient for sarcomagenesis The area has been the subject of several recent reviews (1 –3 ). Besides their biological significance, these translocations are of great diagnostic interest as tumor markers. The morphological diagnosis of sarcomas is often problematic. The possibility of detecting tumor-type-specific translocations represents an extremely useful diagnostic modality The EWS gene, located at 22q12, is the single most commonly involved gene in these translocations and thus plays a pivotal role in several different types of sarcomas, including Ewing’s sarcoma, clear cell sarcoma, desmoplastic small round cell tumor, and extraskeletal myxoid chondrosarcoma (see Table 1 ). We expect that the usefulness of EWS rearrangements as tumor markers in sarcomas will only continue to grow as additional EWS gene fusions are identified. Table 1  Major EWS Gene Fusions in Sarcomas: RT-PCR Detection

Chromosomal translocatron

Fusion product

EWS forward primera

Reverse primer

Product size (bp)

Internal and fusion Junction probes

Ewmg’s sarcoma/PNET






t(ll.22)(q24,q12)

EWS/FLII

ex 7

FLII ex 9 ACTCCCCGTTGGTCCCCTCC

type1 120

EWS ex 7 TATAGCCAACAGAGGAGCAG





type2 183

FL11 ex 6 CAAGCTCCTCTTCTGACTGAG



ex 7

FLII ex 6 GITGAGGCCAGAATTCATGTTA

type1 327

EWS/FLII type1 ACGGGCAGCAGAACCCTTCTTATG





type 2 390

EWS/FLII type 2 ACGGGCAGCAGAGTTCACTGCTGG

t(21,22)(q22,q12)

EWS/ERG

ex 7

ERG ex 9 AAAGCTGGATCTGGCCACTG

Various

ERG AGTCGAAAGCTGCTCACCATCT

Clear-cell sarcoma (MMSP)






t(l2,22)(q13,q12)

EWS/ATFI

ex 8

ATFI TCTCCGTCTCCTTTTCTGC

126

EWS/ATFI CGGTGGAATGGGAAAAATTTTGAA

Desmoplastlc SRCT






t(12,22)(pl3,q12)

EWS/WTI

ex 7

WTI ex 9 GACCAGGAGAACTTKGCTGAC

197

EWS/WTI ACGGGCAGCAGAGTGAGAAACCAT

Extraskeletal myxold CS






t(9,22)(q22,ql2)

EWS/CHN






type 1

ex 12

CHN CCTGGAGGGGAAGGGCTAT

109

EWS/CHN type 1 AATGGTTTGATGATATGCCCTGCG


type 2

ex 7

CHN CCTGGAGGGGAAGGGCTAT

275

EWSKHN type 2 ACGGGCAGCAGAAGCCCACTGCGG

a EWS forward primers exon 7 TCCTACAGCCAAGCTCCAAGTC, exen 8 GGGMGAGGGGGATTTGA, exen 12 AAGGCGATGCCACAGTGTC


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