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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.

Citation

Yansheng Hao, Daniel Khaykin, Levi Machado, Tayler van den Akker, Jane Houldsworth, Bart Barlogie, Shafinaz Hussein, Siraj M El Jamal, Bruce Petersen, Julie Teruya-Feldstein. Bone marrow morphologic features, MyPRS, and gene mutation correlations in plasma cell myeloma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2020 Feb;33(2):188-195

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PMID: 31375765

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