Cleveland Clinic, Department of Anatomic Pathology / L25, Cleveland, OH 44195, USA.
Hum Pathol. 2024 May;147:1-4. doi: 10.1016/j.humpath.2024.03.007. Epub 2024 Mar 29.
There is no shortage of comprehensive review articles on bone and soft tissue pathology, almost always representing a regurgitation of the literature with little to no guidance on personal "best practices," recommended applications of ancillary testing, and alternative points of view. This special issue of Human Pathology uniquely unites evidence-based medicine, where appropriate, with the collective personal experiences of a wide range of accomplished pathologists from varying institutions and backgrounds, addressing problematic areas, updated and sometimes imperfect classification systems, and their personal preferences for cost-effectively incorporating ancillary testing. For the preponderance of general pathologists (and specialists), whether academic or non-academic, non-neoplastic musculoskeletal diseases represent a far higher percentage of their practice than bone and soft tissue neoplasia. One of the most common frozen sections performed at many hospitals throughout the USA is revision arthroplasty, relying on the pathologist to help determine the presence (or absence) of periprosthetic joint infection, largely based on the hematoxylin & eosin (H&E) slide. Not every institution has access to the latest molecular techniques; fortunately, many of the current immunohistochemical antibodies serve as reliable surrogate markers of genetic mutations, allowing for cheaper but accurate diagnoses, when deemed necessary. Furthermore, molecular testing is often not necessary to establish a specific diagnosis, even among neoplasms with known underlying genetic abnormalities. It must be remembered that most bone and soft tissue tumors were recognized and classified correctly, before we uncovered and understood, among a subset, their underlying and unique molecular aberrations. Perhaps not surprisingly, in some cases, more than one molecular pathway may lead to the same histologic tumor subtype. Less commonly, an identical genetic driver/fusion may result in immunophenotypically and biologically distinct neoplasms, sometimes with entirely different clinical behaviors. "Dedifferentiation," a concept recognized among a variety of bone and soft tissue neoplasms, including but not limited to chondrosarcoma, parosteal osteosarcoma, and liposarcoma, needs to be objectively reassessed, particularly for liposarcoma. The following reviews attempt to address the above concepts, re-emphasizing the important role the practicing pathologist continues to (and must) play in the differential diagnoses of neoplastic and non-neoplastic musculoskeletal diseases.
关于骨和软组织病理学的全面综述文章并不短缺,几乎总是在没有个人“最佳实践”指导、推荐的辅助检测应用以及替代观点的情况下,对文献进行简单重复。本期《人体病理学》特刊独特地将循证医学与来自不同机构和背景的广泛经验丰富的病理学家的集体经验相结合,针对有问题的领域、更新的(有时并不完善的)分类系统以及他们个人对经济有效地纳入辅助检测的偏好,解决了这些问题。对于绝大多数普通病理学家(包括专业病理学家)来说,无论是学术机构还是非学术机构,非肿瘤性肌肉骨骼疾病在其实践中所占的比例远远高于骨和软组织肿瘤。在美国许多医院进行的最常见的冷冻切片之一是关节翻修术,依赖于病理学家帮助确定是否存在(或不存在)假体周围关节感染,这主要基于苏木精和伊红(H&E)切片。并非每个机构都能获得最新的分子技术;幸运的是,许多当前的免疫组化抗体可以作为基因突变的可靠替代标志物,在必要时可提供更便宜但准确的诊断。此外,即使在具有已知潜在遗传异常的肿瘤中,进行分子检测也通常不是确定特定诊断所必需的。必须记住,在我们发现并理解某些肿瘤的潜在和独特的分子异常之前,大多数骨和软组织肿瘤已经被正确识别和分类。也许并不奇怪,在某些情况下,一种以上的分子途径可能导致相同的组织学肿瘤亚型。不太常见的是,相同的遗传驱动/融合可能导致免疫表型和生物学上不同的肿瘤,有时具有完全不同的临床行为。“去分化”是一种在各种骨和软组织肿瘤中都被认识到的概念,包括但不限于软骨肉瘤、骨旁骨肉瘤和脂肪肉瘤,需要进行客观评估,特别是对于脂肪肉瘤。以下综述试图解决上述概念,强调了实践病理学家在肿瘤性和非肿瘤性肌肉骨骼疾病的鉴别诊断中继续(且必须)发挥的重要作用。