期刊
CURRENT ONCOLOGY
卷 29, 期 7, 页码 4587-4592出版社
MDPI
DOI: 10.3390/curroncol29070363
关键词
hematology; oncology; cytogenetics; lymphoma; myelodysplastic syndrome; pathology; genetics
类别
Myelodysplastic syndromes (MDS) and Waldenstrom's macroglobulinemia (WM) rarely occur together. This case report describes a unique case of concurrent MDS and WM with multiple somatic mutations, some of which have not been reported before, and a novel balanced reciprocal translocation.
Myelodysplastic syndromes (MDS) and Waldenstrom's macroglobulinemia (WM) are rarely synchronous. Ineffective myelopoiesis/hematopoiesis with clonal unilineage or multilineage dysplasia and cytopenias characterize MDS. Despite a myeloid origin, MDS can sometimes lead to decreased production, abnormal apoptosis or dysmaturation of B cells, and the development of lymphoma. WM includes bone marrow involvement by lymphoplasmacytic lymphoma (LPL) secreting monoclonal immunoglobulin M (IgM) with somatic mutation (L265P) of myeloid differentiation primary response 88 gene (MYD88) in 80-90%, or various mutations of C-terminal domain of the C-X-C chemokine receptor type 4 (CXCR4) gene in 20-40% of cases. A unique, progressive case of concurrent MDS and WM with several somatic mutations (some unreported before) and a novel balanced reciprocal translocation between chromosomes 10 and 13 is presented below.
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