Department of Pathology, Molecular and Cell-Based Medicine, Icahn School of Medicine Mount Sinai, New York, NY, USA.
Department of Medicine Hematology/Oncology, Tisch Cancer Center, Icahn School of Medicine Mount Sinai, New York, NY, USA.
Mod Pathol. 2020 Feb;33(2):188-195. doi: 10.1038/s41379-019-0333-6. Epub 2019 Aug 2.
Genetics has played an important role in risk stratification for plasma cell myeloma patients, providing therapeutic guidance. In this study, we investigated the correlation of bone marrow morphologic features and genetic aberrations, including gene expression profiles, translocations, and gene mutations. For the first time we show that high plasma cell volume, diffuse sheet growth pattern, immature cell morphology, high mitotic index, and increased reticulin fibrosis, significantly correlates with high risk disease determined by MyPRS gene expression profiles. Furthermore, we show the association between MyPRS risk stratification and chromosomal alterations and specific gene mutations. We also demonstrate the combinational effect of TP53 mutation and 17p loss on the histological changes in bone marrow.
遗传学在浆细胞骨髓瘤患者的风险分层中发挥了重要作用，为治疗提供了指导。在这项研究中，我们研究了骨髓形态特征与基因异常（包括基因表达谱、易位和基因突变）之间的相关性。我们首次表明，高浆细胞容量、弥漫片状生长模式、幼稚细胞形态、高有丝分裂指数和网状纤维增生增加，与 MyPRS 基因表达谱确定的高危疾病显著相关。此外，我们还显示了 MyPRS 风险分层与染色体改变和特定基因突变之间的关联。我们还证明了 TP53 突变和 17p 缺失对骨髓组织学变化的组合效应。
