Quintanilla-Martinez L, Tinguely M, Bonzheim I, Fend F
Institut für Pathologie und Neuropathologie, Universitätsklinikum Tübingen, Liebermeisterstr 8, 72076 Tübingen, Deutschland.
Pathologe. 2012 Nov;33(6):481-9. doi: 10.1007/s00292-012-1647-z.
The rapid technological development in diagnostic pathology, especially of immunohistochemical and molecular techniques, also has a significant impact on diagnostic procedures for the evaluation of bone marrow trephine biopsies. The necessity for optimal morphology, combined with preservation of tissue antigens and nucleic acids on one hand and the wish for short turnaround times on the other hand require careful planning of the workflow for fixation, decalcification and embedding of trephines. Although any kind of bone marrow processing has its advantages and disadvantages, formalin fixation followed by EDTA decalcification can be considered a good compromise, which does not restrict the use of molecular techniques. Although the majority of molecular studies in haematological neoplasms are routinely performed on bone marrow aspirates or peripheral blood cells, there are certain indications, in which molecular studies such as clonality determination or detection of specific mutations need to be performed on the trephine biopsy. Especially, the determination of B- or T-cell clonality for the diagnosis of lymphoid malignancies requires stringent quality controls and knowledge of technical pitfalls. In this review, we discuss technical aspects of bone marrow biopsy processing and the application of diagnostic molecular techniques.
诊断病理学领域的快速技术发展，尤其是免疫组织化学和分子技术的发展，也对骨髓活检评估的诊断程序产生了重大影响。一方面需要最佳的形态学表现，同时保留组织抗原和核酸，另一方面又希望缩短周转时间，这就要求对骨髓活检的固定、脱钙和包埋工作流程进行精心规划。尽管任何一种骨髓处理方法都有其优缺点，但甲醛固定后用乙二胺四乙酸（EDTA）脱钙可被视为一种很好的折衷方法，它不会限制分子技术的应用。虽然血液系统肿瘤的大多数分子研究通常是在骨髓穿刺液或外周血细胞上进行的，但在某些情况下，需要对活检组织进行分子研究，如克隆性测定或特定突变的检测。特别是，诊断淋巴系统恶性肿瘤时B细胞或T细胞克隆性的测定需要严格的质量控制和对技术陷阱的了解。在本综述中，我们讨论了骨髓活检处理的技术方面以及诊断分子技术的应用。
