학술논문
In-depth molecular analysis of lymphomas with lymphoplasmacytic differentiation may provide more precise diagnosis and rational treatment allocation.
Document Type
Academic Journal
Author
Brunner A; Department of Pathology, Neuropathology and Molecular Pathology, Innsbruck Medical University, Innsbruck, Austria. andrea.brunner@i-med.ac.at.; Thalhammer-Thurner GC; Department of Pathology, Neuropathology and Molecular Pathology, Innsbruck Medical University, Innsbruck, Austria.; Willenbacher W; Internal Medicine V, Haematology & Oncology, Innsbruck Medical University, Innsbruck, Austria.; Syndena GmbH, Connect to Cure, Innsbruck, Austria.; Haun M; Department of Pathology, Neuropathology and Molecular Pathology, Innsbruck Medical University, Innsbruck, Austria.; Institute of Pathophysiology, Innsbruck Medical University, Innsbruck, Austria.; Zelger BG; Department of Pathology, Neuropathology and Molecular Pathology, Innsbruck Medical University, Innsbruck, Austria.; Willenbacher E; Internal Medicine V, Haematology & Oncology, Innsbruck Medical University, Innsbruck, Austria.
Source
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE
Subject
Language
English
Abstract
We performed a molecular analysis of formalin-fixed paraffin embedded and decalcified bone marrow trephine biopsies of 41 patients with a B-cell disorder with lymphoplasmacytic differentiation to enable a more precise diagnosis and to describe potentially prognostic and therapeutic relevant mutations. Analysis was performed with a commercially available next-generation sequencing (NGS) lymphoma panel (Lymphoma Solution, SophiaGenetics). Results were correlated with clinical and pathological parameters. Our group covered a spectrum of B-cell disorders with plasmacytic differentiation ranging from Waldenstroem's macroglobulinemia (WM), to small-B-cell lymphomas with plasmacytic differentiation (SBCL-PC) to IgM myeloma (MM). The most helpful diagnostic criteria included morphology and immuno-phenotype as a prerequisite for the interpretation of molecular analysis. MYD88 mutation was present in nearly all WM, but also in 50% of SBCL-PCs, while MM were consistently negative. Driver mutations, such as TP53, were already detectable early in the course of the respective diseases indicating a higher risk of progression, transformation, and reduced progression-free survival. In addition, we report on a novel BIRC3 frameshift mutation in one case of a progressive WM. Our data indicate that patients with LPL/WM might benefit from thorough pathological work-up and detailed molecular analysis in terms of precise diagnosis and targeted treatment allocation.
(© 2023. The Author(s).)
(© 2023. The Author(s).)