- RCPA《Pathology》综述：基因组检测如何作为形态与 IHC 的辅助，贯穿骨软、皮肤、神经、儿科、泌尿与淋巴瘤等亚专科。
- 方法按问题选择：FISH、PCR 与 DNA/RNA NGS；强调许多改变并非疾病特异，必须结合形态解读。
- 神经病理已将分子写入分类定义；儿科肿瘤尤受益于 RNA 测序；泌尿病理中分子细化肾肿瘤分类。
- Unpaywall 标 hybrid CC BY，但 ScienceDirect/期刊站本机出口遇 Cloudflare，本轮仅诚实上线摘要。
收录范围：PubMed 英文摘要及中文翻译（abstract-only）。Unpaywall 显示 hybrid OA（CC BY），但 ScienceDirect / pathologyjournal.rcpa.edu.au 从本站出口遇 Cloudflare challenge，未取得全文与图表。
摘要
基因组检测已成为现代诊断外科病理中常规组织形态学与免疫组化的重要辅助手段，有助于更精确的肿瘤分类，尤其在诊断困难的病例。本综述聚焦基因组技术在多个亚专科中的诊断应用，包括骨与软组织病理、皮肤病理、神经病理、儿科病理、泌尿病理及淋巴瘤病理。根据临床问题与拟检测的基因组改变类型，可采用荧光原位杂交、基于聚合酶链反应的检测，以及针对 DNA 与 RNA 的二代测序等方法。在骨软组织病理中，反复出现的基因融合、扩增与突变是关键诊断标记，尤其对形态模糊的病变。皮肤病理中，基因组分析对黑色素细胞肿瘤分类、鉴别组织学拟态及提供预后信息至关重要。神经病理率先建立了整合分子—组织学分类体系，基因组改变现已成为许多中枢神经系统肿瘤定义与分级的核心。儿科肿瘤常由染色体结构重排与基因融合驱动，基于 RNA 的测序对诊断与治疗分层尤为有价值。同样，分子检测细化了肾肿瘤分类，并提高了泌尿病理中少见实体的诊断准确性。淋巴瘤病理中，基因组改变有助于区分重叠实体、确认诊断并识别具有临床意义的亚组。突变特征分析等新兴应用可通过将肿瘤与特定病因暴露或生物学过程相联系，进一步提高诊断精度，并在疑难病例中协助判断肿瘤起源。尽管作用不断扩大，基因组检测仍须审慎使用，并在形态学背景下解读，因为许多遗传学改变并非完全疾病特异，且检测方法存在局限。总体而言，基因组数据与传统病理的整合对准确诊断、预后判断及推进精准医学仍至关重要。
- RCPA Pathology review of diagnostic genomic testing across bone/soft tissue, dermpath, neuropath, paediatric, uropathology and lymphoma.
- Methods chosen by question: FISH, PCR and DNA/RNA NGS; many alterations are not disease-specific and must be read with morphology.
- Neuropathology pioneered integrated molecular classification; paediatric tumours especially benefit from RNA sequencing; molecular testing refines renal tumour classification.
- Unpaywall: hybrid CC BY, but ScienceDirect/journal sites hit Cloudflare from this egress — abstract-only this round.
Scope: PubMed abstract only. Unpaywall lists hybrid OA (CC BY), but ScienceDirect / pathologyjournal.rcpa.edu.au returned Cloudflare challenges from this egress; full text and figures were not collected.
Abstract
Genomic testing has become an essential adjunct to conventional histomorphology and immunohistochemistry in modern diagnostic surgical pathology, enabling more precise tumour classification, particularly in diagnostically challenging cases. This review focuses on the diagnostic applications of genomic techniques across multiple subspecialties, including bone and soft tissue pathology, dermatopathology, neuropathology, paediatric pathology, uropathology, and lymphoma pathology. A range of methodologies, such as fluorescence in situ hybridisation, polymerase chain reaction-based assays, and next-generation sequencing approaches (targeting DNA and RNA), are employed depending on the clinical question and the type of genomic alteration being investigated. In bone and soft tissue pathology, recurrent gene fusions, amplifications, and mutations serve as key diagnostic markers, especially in morphologically ambiguous lesions. In dermatopathology, genomic profiling plays a critical role in classifying melanocytic neoplasms, distinguishing histological mimics, and providing prognostic information. Neuropathology has pioneered integrated molecular-histological classification systems, with genomic alterations now central to the definition and grading of many central nervous system tumours. In paediatric pathology, tumours are frequently driven by structural chromosomal rearrangements and gene fusions, making RNA-based sequencing particularly valuable for diagnosis and therapeutic stratification. Similarly, molecular testing has refined the classification of renal tumours and improved the diagnostic accuracy of rare entities in uropathology. In lymphoma pathology, genomic alterations aid in distinguishing overlapping entities, confirming diagnoses, and identifying clinically significant subgroups. Emerging applications such as mutational signature analysis further enhance diagnostic precision by linking tumours to specific aetiological exposures or biological processes, which may assist in determining tumour origin in challenging cases. Despite its expanding role, genomic testing must be used judiciously and interpreted in the context of morphology, as many genetic alterations are not entirely disease-specific and assay limitations exist. Overall, the integration of genomic data with traditional pathology remains critical for accurate diagnosis, prognostication, and the advancement of precision medicine.