A novel t(4;22)(q31;q12) produces an EWSR1–SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor

Sümegi, János; Nishio, Jun; Nelson, Marilu; Frayer, Robert W.; Perry, Deborah; Bridge, Julia A.

doi:10.1038/modpathol.2010.201

Cited by 93 publications

(53 citation statements)

References 48 publications

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“…Later studies showed that SNF2H is essential for proliferation of adult hematopoietic progenitors, in line with the first observations (43). More recently, SNF2H was identified as a fusion partner of EWSR1 in Ewing sarcoma/primitive neuroectodermal tumors, and the tumorigenic potential of the chimeric protein was documented (46). Furthermore, higher levels of SNF2H have been reported in gastric cancer than in normal mucosa, suggesting a role in malignancy (17).…”

mentioning

confidence: 49%

Nucleosome Remodeler SNF2L Suppresses Cell Proliferation and Migration and Attenuates Wnt Signaling

Eckey

Kuphal

Straub

et al. 2012

Molecular and Cellular Biology

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ISWI is an evolutionarily conserved ATPase that catalyzes nucleosome remodeling in different macromolecular complexes. Two mammalian ISWI orthologs, SNF2H and SNF2L, are thought to have specialized functions despite their high sequence similarity. To date, the function of SNF2L in human cells has not been a focus of research. Newly established specific monoclonal antibodies and selective RNA interference protocols have now enabled a comprehensive characterization of loss-of-function phenotypes in human cells. In contrast to earlier results, we found SNF2L to be broadly expressed in primary human tissues. Depletion of SNF2L in HeLa cells led to enhanced proliferation and increased migration. These phenomena were explained by transcriptome profiling, which identified SNF2L as a modulator of the Wnt signaling network. The cumulative effects of SNF2L depletion on gene expression portray the cell in a state of activated Wnt signaling characterized by increased proliferation and chemotactic locomotion. Accordingly, high levels of SNF2L expression in normal melanocytes contrast with undetectable expression in malignant melanoma. In summary, our data document an inverse relationship between SNF2L expression and features characteristic of malignant cells.

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mentioning

confidence: 49%

Nucleosome Remodeler SNF2L Suppresses Cell Proliferation and Migration and Attenuates Wnt Signaling

Eckey

Kuphal

Straub

et al. 2012

Molecular and Cellular Biology

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“…The especially 4q31 locus was significantly overrepresented in our patients (Table 1) (Figure 2). Cytogenetic analysis of an extraskeletal Ewing sarcoma/ primitive neuroectodermal tumors (PNETs) revealed a novel chromosomal translocation t(4;22)(q31;q12) as the sole anomaly (Sumegi et al, 2011). Recent gene studies of chronic obstructive pulmonary disease (COPD) implicate genetic variants on the chromosomal 4q31 locus.…”

Section: Discussionmentioning

confidence: 99%

Chromosome Imbalances and Alterations of AURKA and MYCN Genes in Children with Neuroblastoma

Yılmaz¹,

Demırhan²,

Erdoğan³

et al. 2012

Asian Pacific Journal of Cancer Prevention

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Background: Neuroblastoma (NB), like most human cancers, is characterized by genomic instability, manifested at the chromosomal level as allelic gain, loss or rearrangement. Genetics methods, as well as conventional and molecular cytogenetics may provide valuable clues for the identification of target loci and successful search for major genes in neuroblastoma. We aimed to investigate AURKA and MYCN gene rearrangements and the chromosomal aberrations (CAs) to determine the prognosis of neuroblastoma. Methods: We performed cytogenetic analysis by G-banding in 25 cases [11 girls (44%) and 14 boys (66%)] and in 25 controls. Fluorescence in situ hybridization (FISH) with AURKA and MYCN gene probes was also used on interphase nuclei to screen for alterations. Results: Some 18.4% of patient cells exhibited CAs., with a significant difference between patient and control groups in the frequencies (P<0.0001). Some 72% of the cells had structural aberrations, and only 28% had numerical chnages in patients. Structural aberrations consisted of deletions, translocations, breaks and fragility in various chromosomes, 84% and 52% of the patients having deletions and translocations, respectively. Among these expressed CAs, there was a higher frequency at 1q21, 1q32, 2q21, 2q31, 2p24, 4q31, 9q11, 9q22, 13q14, 14q11.2, 14q24, and

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“…[47] EWSR1-PATZ t(1;22)(p36.1;q12)[with inv (22)] Mastrangelo et al . [48] EWSR1-SP3 t(2;22)(q31;q12)…”

Section: Mutationsunclassified

Molecular genetics of Ewing sarcoma, model systems and finding novel (immuno-) therapeutic targets

Ent¹,

Sand²,

Hogendoorn³

2018

JTGG

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Ewing sarcoma (EWS) is a bone-and soft tissue tumour affecting primarily children and young adults. A quarter of patients present with metastases at the time of diagnosis and have a poor outlook in terms of overall survival. Efforts are made across the field to gain deeper insight in the genetics of this enigmatic neoplasm. EWS is characterized by presence of an oncogenic translocation gene, EWSR1-ETS. In addition, there are a limited number of known recurrent DNA copy number variations and mutations. Subsequent of the above, the epigenetic profile of EWS is subject of interest. In this review, we summarize the current available knowledge on the genetics underpinning EWS, explore the current knowledge of its epigenetic profile, discuss in vitro and in vivo model systems, and explore the unravelling knowledge of potential targets for treatment including recent insights into potential immunotherapy.

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A novel t(4;22)(q31;q12) produces an EWSR1–SMARCA5 fusion in extraskeletal Ewing sarcoma/primitive neuroectodermal tumor

Cited by 93 publications

References 48 publications

Nucleosome Remodeler SNF2L Suppresses Cell Proliferation and Migration and Attenuates Wnt Signaling

Nucleosome Remodeler SNF2L Suppresses Cell Proliferation and Migration and Attenuates Wnt Signaling

Chromosome Imbalances and Alterations of AURKA and MYCN Genes in Children with Neuroblastoma

Molecular genetics of Ewing sarcoma, model systems and finding novel (immuno-) therapeutic targets

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