Scholarlink

<p>Rb and p53 status helps distinguishing well from poorly differentiated high-grade neuroendocrine neoplasms (HG-NENs) and may predict response to platinum-based chemotherapy. Historically, gene and protein profile correlations for Rb and p53 were performed on frozen samples using high-throughput techniques efficient for copy number determination. This situation differs from routine practice in which NGS is not available everywhere and small deletions may be hard to detect on formalin-fixed paraffin-embedded (FFPE) samples with a gene panel approach. This study aimed at describing the immunohistochemical (IHC) staining patterns of Rb, p16, and p53 in a large cohort of well and poorly differentiated lung and pancreatic HG-NENs, and comparing the performance of Rb/p53 NGS profiling with IHC to detect molecular alterations. Rb, p16, and p53 protein status were determined by IHC in 132 HG-NENs (79 pulmonary and 53 pancreatic). NGS was performed on a subset of 63 tumors. Three IHC patterns were observed in HG-NENs: (i) loss of expression (Rb<sup>loss</sup> = 45.4% with p16<sup>strong</sup> expression in most cases, p53<sup>loss</sup> = 32.6%), (ii) variable expression (Rb<sup>var</sup> = 40.8% including 12 cases with p16<sup>strong</sup>, p53<sup>var</sup> = 37.1%), (iii) strong expression (Rb<sup>strong</sup> = 13.6%, p53<sup>strong</sup> = 30.3%). NGS testing and IHC agreed in 76.2% and 82.5% of cases for Rb and p53, respectively. Abnormal Rb &amp; p53 IHC profiles, highly suggestive of a molecular alteration, were missed by NGS in 42% and 20.5% of cases, respectively. In conclusion, IHC is a reliable, rapid, and cost-effective screening method in HG-NENs for Rb/p53 status.</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

Performance of Immunohistochemistry to Detect Rb/p53 Alterations in High-Grade Neuroendocrine Neoplasms: Staining Patterns and Comparison with Genetic Testing

  • 期刊论文

  • 发表日期：

    2025年10月29日

查看全文
  • Ruiqian Chen,
  • Matthieu Tihy,
  • Ludovic Lacroix,
  • Ophelie de Rycke,
  • Caroline Lacombe,
  • Pierre Alexandre Just,
  • Aurelie Cazes,
  • Magali Svrcek,
  • Vincent Thomas de Montpreville,
  • Martine Antoine,
  • Jean Yves Scoazec,
  • Louis de Mestier,
  • Anne Couvelard,
  • Jérôme Cros

摘要

Rb and p53 status helps distinguishing well from poorly differentiated high-grade neuroendocrine neoplasms (HG-NENs) and may predict response to platinum-based chemotherapy. Historically, gene and protein profile correlations for Rb and p53 were performed on frozen samples using high-throughput techniques efficient for copy number determination. This situation differs from routine practice in which NGS is not available everywhere and small deletions may be hard to detect on formalin-fixed paraffin-embedded (FFPE) samples with a gene panel approach. This study aimed at describing the immunohistochemical (IHC) staining patterns of Rb, p16, and p53 in a large cohort of well and poorly differentiated lung and pancreatic HG-NENs, and comparing the performance of Rb/p53 NGS profiling with IHC to detect molecular alterations. Rb, p16, and p53 protein status were determined by IHC in 132 HG-NENs (79 pulmonary and 53 pancreatic). NGS was performed on a subset of 63 tumors. Three IHC patterns were observed in HG-NENs: (i) loss of expression (Rbloss = 45.4% with p16strong expression in most cases, p53loss = 32.6%), (ii) variable expression (Rbvar = 40.8% including 12 cases with p16strong, p53var = 37.1%), (iii) strong expression (Rbstrong = 13.6%, p53strong = 30.3%). NGS testing and IHC agreed in 76.2% and 82.5% of cases for Rb and p53, respectively. Abnormal Rb & p53 IHC profiles, highly suggestive of a molecular alteration, were missed by NGS in 42% and 20.5% of cases, respectively. In conclusion, IHC is a reliable, rapid, and cost-effective screening method in HG-NENs for Rb/p53 status.