Hirschbühl Klaus, Märkl Bruno, Müller Gernot, Schaller Tina, Claus Rainer, Sommer Sebastian, Schmutz Maximilian, Trepel Martin, Schmid Christoph, Dintner Sebastian
Hematology and Oncology, Medical Faculty, University of Augsburg, 86156 Augsburg, Germany.
Bavarian Center for Cancer Research (BZKF), 86156 Augsburg, Germany.
Diagnostics (Basel). 2025 Apr 14;15(8):991. doi: 10.3390/diagnostics15080991.
: The diagnosis of hematologic neoplasms is usually based on a synopsis of the peripheral blood (PB) and bone marrow findings. Morphology continues to be the cornerstone, but genetic analysis plays an increasingly important role. In routine workup, molecular genetic analysis is performed from a bone marrow aspirate (BMA). In the event of inadequate aspiration, PB is used. Not infrequently, however, PB only partially represents the disease. In this situation, molecular genetic analysis of formalin-fixed and paraffin-embedded (FFPE) bone marrow core biopsy (BMCB) could be a better alternative than PB. However, no systematic correlation of genetic findings from BMCB with results from BMA and PB has been reported. : Therefore, BMCB obtained during routine diagnostics were subjected to post hoc molecular genetic analysis using next generation sequencing (NGS). The identified molecular genetic alterations were then compared with data within routine diagnostics of the corresponding BMA and/or PB. : In total, 29 BMCB and corresponding BMA samples were analyzed, and in 12/29 cases PB was additionally available. The analysis of BMCB and BMA showed identical results in 17 cases, but BMCB revealed a gain of information in 11, while in only 1 case, BMCB failed to identify the mutations in comparison to BMA. : Despite the small numbers, molecular genetic analysis of bone marrow core biopsy using next generation sequencing could detect relevant additional gene mutations compared to bone marrow aspirate and/or peripheral blood.
血液系统肿瘤的诊断通常基于外周血（PB）和骨髓检查结果的概要。形态学仍然是基石，但基因分析发挥着越来越重要的作用。在常规检查中，分子基因分析是从骨髓穿刺液（BMA）中进行的。如果穿刺不足，则使用PB。然而，PB往往只能部分反映疾病情况。在这种情况下，对福尔马林固定石蜡包埋（FFPE）的骨髓芯针活检（BMCB）进行分子基因分析可能是比PB更好的选择。然而，尚未有关于BMCB的基因检测结果与BMA和PB结果的系统相关性报道。因此，对常规诊断过程中获取的BMCB进行事后下一代测序（NGS）分子基因分析。然后将鉴定出的分子基因改变与相应BMA和/或PB的常规诊断数据进行比较。总共分析了29份BMCB和相应的BMA样本，其中12/29例还可获得PB样本。BMCB和BMA的分析在17例中显示出相同的结果，但BMCB在11例中提供了更多信息，而与BMA相比，只有1例BMCB未能识别出突变。尽管样本数量较少，但与骨髓穿刺液和/或外周血相比，使用下一代测序对骨髓芯针活检进行分子基因分析能够检测到相关的额外基因突变。
