- 79 例 Reed 色素性梭形细胞痣（PSCN，按 2025 WHO 标准复核，BRAF V600E/RAS Q61R 染色阴性）用改良 pan-TRK 方案（额外扩增步骤 + 红色显色剂）染色，并行 RNA-NGS（64 例）与 NTRK1/2/3 FISH（57 例）。
- RNA-NGS 可评估 59 例：MYO5A::NTRK3 融合 55.9%，另见 NTRK3 不平衡 3 例及 MYO5A::ROS1、ESR1::CCDC170 各 1 例；NTRK3 FISH 阳性 64.7%（33/51）。
- pan-TRK 阳性 20.3%，均为弥漫颗粒状胞质中等强度着色；特异性与 PPV 高（92.3%–96.2%，联合分子金标准时均 100%），但敏感性仅约 33%–36%——阳性可指导分子检测，阴性不能排除。
收录范围：PubMed 英文摘要及中文翻译（abstract-only）。Crossref 显示原文以 CC BY 4.0 开放获取，但 Wiley 全文页对本站出口返回 Cloudflare 验证页（curl 与 Chrome headless 均未通过），未采集全文、图表；全文待后续补采。
摘要
目的：Reed 色素性梭形细胞痣（PSCN）主要以 MYO5A::NTRK3 融合为特征。然而，文献报道 PSCN 中 NTRK 融合/重排的发生率为 15.8%–57%，且检测这些改变的各技术之间的一致性尚未得到分析。本研究采用优化的 pan-TRK 方案、RNA-NGS 融合 panel 及 FISH（NTRK1/2/3）分析一组 PSCN 的 NTRK 融合/重排。
方法与结果：收集 79 例 PSCN，按 2025 年 WHO 标准重新分类（且 BRAF V600E/RAS Q61R 染色阴性），并采用近期提出的一种 pan-TRK 方案的改良版（增加扩增步骤并使用红色显色剂）进行染色。在有可用材料的 64 例和 57 例中分别进行了 RNA-NGS 和 FISH（NTRK1/2/3）分析。pan-TRK 在 16 例（20.3%）中阳性，均呈弥漫、颗粒状、中等强度的胞质着色。在 59 例 RNA-NGS 数据可评估的病例中，33 例（55.9%）携带 MYO5A::NTRK3 融合，3 例（5.1%）存在 NTRK3 不平衡，MYO5A::ROS1 和 ESR1::CCDC170 融合各 1 例（1.7%）。在 51 例 FISH（NTRK3）数据可评估的病例中，33 例（64.7%）NTRK3 重排阳性。pan-TRK 分别与 RNA-NGS 及 FISH（NTRK3）比较，检测 NTRK3 融合/重排的特异性（SP）和阳性预测值（PPV）均较高（92.3%–96.2%），但敏感性（SE）有限，为 36.4%。将 pan-TRK 与 RNA-NGS 和 FISH（NTRK3）联合结果比较时，SP 和 PPV 均为 100%，SE 为 33.3%。
结论：我们「优化」的 pan-TRK 方案检测 PSCN 中 NTRK3 融合/重排具有较高的 SP 和 PPV，但与分子检测相比敏感性有限。这些结果提示，该方案可作为常规实践中的诊断工具，有效指导分子检测，并优化 PSCN 的诊断流程。
- 79 pigmented spindle cell naevi of Reed (PSCN; reclassified by 2025 WHO criteria, BRAF V600E/RAS Q61R stain-negative) were stained with a modified pan-TRK protocol (extra amplification + red chromogen), with RNA-NGS (64) and NTRK1/2/3 FISH (57).
- Of 59 evaluable by RNA-NGS, 55.9% had MYO5A::NTRK3, plus 3 NTRK3 imbalance and one each of MYO5A::ROS1 and ESR1::CCDC170; NTRK3 FISH was positive in 64.7% (33/51).
- pan-TRK was positive in 20.3% (diffuse granular cytoplasmic, moderate intensity); specificity and PPV were high (92.3%–96.2%; 100% against combined molecular testing) but sensitivity only ~33%–36% — a positive result can guide molecular testing; a negative one does not exclude fusion.
Scope: PubMed abstract only. Crossref lists the article as open access (CC BY 4.0), but the Wiley full-text page returned a Cloudflare challenge to this site (curl and headless Chrome), so full text, figures and tables were not collected.
Abstract
AIMS: Pigmented spindle cell naevus of Reed (PSCN) is mainly characterized by MYO5A::NTRK3 fusion. However, the prevalence of NTRK fusions/rearrangements in PSCNs ranges from 15.8% to 57% in the literature, and the agreement among techniques for detecting these alterations has not been analysed. Here, we analysed NTRK fusions/rearrangements in a series of PSCNs using an optimized pan-TRK protocol, RNA-NGS fusion panel and FISH (NTRK1/2/3).
METHODS AND RESULTS: Seventy-nine PSCNs were collected, reclassified (2025 WHO criteria and negative for BRAF V600E/RAS Q61R stains), and stained with a modified version of a recently proposed pan-TRK protocol (additional amplification steps and Red chromogen). In 64 and 57 cases with available material, we performed RNA-NGS and FISH (NTRK1/2/3) analyses, respectively. Pan-TRK was positive in 16 (20.3%) cases, all showing diffuse, granular, cytoplasmic staining of moderate intensity. In 59 cases with evaluable RNA-NGS data, 33 (55.9%) harboured MYO5A::NTRK3 fusion, 3 (5.1%) had NTRK3 imbalance, and 1 (1.7%) case each showed MYO5A::ROS1 and ESR1::CCDC170 fusion. In 51 cases with evaluable FISH (NTRK3) data, 33 (64.7%) were positive for NTRK3 rearrangement. Both the comparison of pan-TRK versus RNA-NGS and versus FISH (NTRK3) revealed high values of specificity (SP) and positive predictive value (PPV) (92.3%-96.2%) for the detection of NTRK3 fusions/rearrangements, despite a limited sensitivity (SE) of 36.4%. In the comparison of pan-TRK versus RNA-NGS and FISH (NTRK3), both SP and PPV were 100%, with a SE of 33.3%.
CONCLUSIONS: Our 'optimized' pan-TRK protocol achieved high SP and PPV for the detection of NTRK3 fusions/rearrangements in PSCNs, despite a limited sensitivity compared to molecular assay. These results suggest that this protocol may serve as a diagnostic tool in routine practice, effectively guiding molecular testing and refining the diagnostic workflow for PSCNs.