Department of Pathology, University of Maryland Medical System, Baltimore, MD 21201, USA.
Department of Medicine, The George Washington University, Washington, DC 20037, USA.
Curr Oncol. 2022 Jun 29;29(7):4587-4592. doi: 10.3390/curroncol29070363.
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 () in 80-90%, or various mutations of C-terminal domain of the C-X-C chemokine receptor type 4 () 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.
骨髓增生异常综合征（MDS）和华氏巨球蛋白血症（WM）很少同时发生。无效造血/造血伴有克隆性单系或多系发育不良和细胞减少是 MDS 的特征。尽管起源于髓系，但 MDS 有时可导致 B 细胞产生减少、异常凋亡或发育不良，以及淋巴瘤的发展。WM 包括骨髓中淋巴浆细胞淋巴瘤（LPL）的浸润，该淋巴瘤分泌单克隆免疫球蛋白 M（IgM），伴有髓系分化原初反应基因 88 号（）的体细胞突变（L265P），占 80-90%，或 C-X-C 趋化因子受体 4 号（）基因 C 末端结构域的各种突变，占 20-40%。本文报道了一例独特的、进行性的 MDS 和 WM 合并病例，该病例存在多个体细胞突变（其中一些以前未见报道）和 10 号和 13 号染色体之间的新型平衡相互易位。
