Tominaga N, Katagiri S, Hamaguchi Y, Nishiura T, Kanakura Y, Kanayama Y, Nagao K, Kakiuchi Y, Nishida K, Abe T
Second Department of Internal Medicine, Osaka University Medical School, Japan.
Br J Haematol. 1988 Jun;69(2):213-8. doi: 10.1111/j.1365-2141.1988.tb07624.x.
A case of plasma cell leukaemia of non-producer type is described. The patient presented with typical clinical features of plasma cell myeloma, including multiple osteolytic lesions, hypercalcaemia, renal failure and reduced polyclonal immunoglobulins, except that M-component was not detected in either the serum or urine. Morphological examinations showed a plasmacytoid appearance of the neoplastic cells, while immunological studies failed to detect cytoplasmic immunoglobulin or secretory capacity. The surface phenotype of CD38+, PCA-1+, DR-, CD20-, CD24-, CD9-, CD10- and surface immunoglobulin- was compatible with mature plasma cells. Chromosomal analysis showed the 14q+ marker due to translocation (6;14) and deletion of the short arm of chromosome 1. Analysis of immunoglobulin genes revealed the presence of heavy chain gene rearrangement, but the light chain genes, both kappa and lambda, remained in germline configuration. Such defective immunoglobulin gene rearrangement may be responsible for the failure of immunoglobulin biosynthesis and secretion by the neoplastic plasma cells. Furthermore, it is suggested that the morphological and phenotypic development of B cells may not necessarily depend on immunoglobulin light chain gene rearrangement, and that the oncogenic event in myeloma may occur at an earlier stage of B cell differentiation.
本文描述了一例非分泌型浆细胞白血病病例。该患者具有浆细胞骨髓瘤的典型临床特征，包括多处溶骨性病变、高钙血症、肾衰竭以及多克隆免疫球蛋白降低，但血清和尿液中均未检测到M蛋白成分。形态学检查显示肿瘤细胞呈浆细胞样外观，而免疫学研究未检测到细胞质免疫球蛋白或分泌能力。CD38 +、PCA - 1 +、DR -、CD20 -、CD24 -、CD9 -、CD10 -以及表面免疫球蛋白阴性的表面表型与成熟浆细胞相符。染色体分析显示由于（6；14）易位导致14q +标记以及1号染色体短臂缺失。免疫球蛋白基因分析显示存在重链基因重排，但κ和λ轻链基因均保持种系构型。这种有缺陷的免疫球蛋白基因重排可能是肿瘤性浆细胞免疫球蛋白生物合成和分泌失败的原因。此外，提示B细胞的形态和表型发育不一定依赖于免疫球蛋白轻链基因重排，骨髓瘤中的致癌事件可能发生在B细胞分化的早期阶段。
