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Source: BMČ - články
Progression, transformation, and unusual manifestations of myelodysplastic syndromes and myelodysplastic-myeloproliferative neoplasms: lessons learned from the XIV European Bone Marrow Working Group Course 2019 / K. Hebeda, L. Boudova, C. Beham-Schmid, A. Orazi, HM. Kvasnicka, U. Gianelli, A. Tzankov
Hebeda, Konnie
Department of Pathology, University Medical Center Utrecht, Utrecht, Netherlands

Boudova, Ludmila
Bioptická laboratoř, Pilsen, Czech Republic

Beham-Schmid, Christine
Institute of Pathology, Medical University of Graz, Graz, Austria

Orazi, Attilio
Department of Pathology, Texas Tech Health Sciences Center El Paso, El Paso, TX, USA

Kvasnicka, Hans-Michael
Institute of Pathology, Helios University Hospital, Wuppertal, Germany

Gianelli, Umberto
Pathology Unit, Department of Pathophysiology and Transplantation, University of Milan and Fondazione IRCCS, Ca' Granda-Maggiore Policlinico, Milan, Italy

Tzankov, Alexandar
Institute of Medical Genetics and Pathology, University Hospital of Basel, Schoenbeinstrasse 40, CH-4031, Basel, Switzerland.

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Annals of hematology. 2021, roč. 100, č. 1, s. 117-133. ISSN: 0939-5555; 1432-0584 (elektronická verze).
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English Abstract
Disease progression in myelodysplastic syndromes (MDS) and myelodysplastic-myeloproliferative neoplasms (MDS/MPN) is a major source of mortality. The European Bone Marrow Working Group organized a dedicated workshop to address MDS and MDS/MPN progression, and myeloid neoplasms with histiocytic and lymphoblastic outgrowths in 2019 in Frankfurt, Germany. In this report, we summarize clinical, histopathological, and molecular features of 28 cases. Most cases illustrate that prognostic mutational profiles change during follow-up due to accumulation of high-risk mutations in the trunk clone, and that results from repeated molecular testing can often explain the clinical progression, suggesting that regular genetic testing may predict transformation by early detection of aggressive clones. Importantly, identical mutations can be linked to different clinical behaviors or risks of fibrotic progression and/or transformation in a context-dependent manner, i.e., MDS or MDS/MPN. Moreover, the order of mutational acquisition and the involved cell lineages matter. Several cases exemplify that histiocytic outgrowths in myeloid neoplasms are usually accompanied by a more aggressive clinical course and may be considered harbinger of disease progression. Exceptionally, lymphoblastic transformations can be seen. As best estimable, the histiocytic and lymphoblastic compounds in all occasions were clonally related to the myeloid compound and-where studied-displayed genomic alterations of, e.g., transcription factor genes or genes involved in MAPK signaling that might be mechanistically linked to the respective type of non-myeloid outgrowth.
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