Scholarlink

<p>We assessed whether an endothelium-specific enhancer is co-amplified with <i>MYC</i> in postirradiation/lymphedema-associated angiosarcoma (PLAS). First, the signal pattern and diagnostic utility of <i>MYC</i> break-apart fluorescence in situ hybridization (FISH) were examined to distinguish PLAS from carcinoma. Next, public data were analyzed to determine the association between the <i>MYC</i>-co-amplified region and cell type-specific active enhancers. Six cases of PLAS were retrieved, including three with a history of breast cancer. Additionally, we retrieved 23 <i>MYC</i>-amplified carcinoma cases, of which seven were breast cancers. <i>MYC</i> break-apart FISH was performed in all cases. The <i>MYC</i>-co-amplified regions in angiosarcoma and other carcinomas were explored using cBioportal. Endothelium-specific active enhancers were searched using H3K4me1 and H3K27ac chromatin immunoprecipitation-sequencing data on ENCODE. <i>MYC</i> break-apart FISH analysis revealed selective 5′ amplification in all six PLAS cases, whereas 16 of 23 carcinomas, as well as six of seven <i>MYC</i>-amplified breast cancers, exhibited dual-signal amplification. cBioportal data analysis revealed 5′ skewing of the <i>MYC</i>-co-amplified region in angiosarcoma, which was not readily apparent in other carcinomas. ENCODE chromatin immunoprecipitation-sequencing data analysis revealed endothelium-specific active enhancers upstream of <i>MYC</i>; the cell/tissue-type-specific 3′ enhancer was not conspicuous. In conclusion, <i>MYC</i> break-apart FISH is a useful adjunctive tool for distinguishing PLAS from carcinoma. The 5′ skewing of the <i>MYC</i>-co-amplified region, possibly associated with an endothelium-specific active enhancer, was confirmed. Subsequent studies involving larger case series, higher-resolution genomic experiments, and single-cell epigenetic experiments are required.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Selective MYC 5′ amplification in postirradiation/lymphedema-associated angiosarcoma

  • 期刊论文

  • 发表日期：

    2026年1月26日

查看全文
  • Naohiro Makise,
  • Ryuta Kojima,
  • Naoki Takeda,
  • Mariko Oikawa,
  • Yusuke Amano,
  • Takahiro Sugiyama,
  • Shouko Hayama,
  • Rikiya Nakamura,
  • Hideyuki Kinoshita,
  • Hiroto Kamoda,
  • Yoko Hagiwara,
  • Tsukasa Yonemoto,
  • Masahito Kawazu,
  • Akinobu Araki

摘要

We assessed whether an endothelium-specific enhancer is co-amplified with MYC in postirradiation/lymphedema-associated angiosarcoma (PLAS). First, the signal pattern and diagnostic utility of MYC break-apart fluorescence in situ hybridization (FISH) were examined to distinguish PLAS from carcinoma. Next, public data were analyzed to determine the association between the MYC-co-amplified region and cell type-specific active enhancers. Six cases of PLAS were retrieved, including three with a history of breast cancer. Additionally, we retrieved 23 MYC-amplified carcinoma cases, of which seven were breast cancers. MYC break-apart FISH was performed in all cases. The MYC-co-amplified regions in angiosarcoma and other carcinomas were explored using cBioportal. Endothelium-specific active enhancers were searched using H3K4me1 and H3K27ac chromatin immunoprecipitation-sequencing data on ENCODE. MYC break-apart FISH analysis revealed selective 5′ amplification in all six PLAS cases, whereas 16 of 23 carcinomas, as well as six of seven MYC-amplified breast cancers, exhibited dual-signal amplification. cBioportal data analysis revealed 5′ skewing of the MYC-co-amplified region in angiosarcoma, which was not readily apparent in other carcinomas. ENCODE chromatin immunoprecipitation-sequencing data analysis revealed endothelium-specific active enhancers upstream of MYC; the cell/tissue-type-specific 3′ enhancer was not conspicuous. In conclusion, MYC break-apart FISH is a useful adjunctive tool for distinguishing PLAS from carcinoma. The 5′ skewing of the MYC-co-amplified region, possibly associated with an endothelium-specific active enhancer, was confirmed. Subsequent studies involving larger case series, higher-resolution genomic experiments, and single-cell epigenetic experiments are required.