Sasaki Yuto, Ichikawa Satoshi, Sakurai Kazuki, Nakamura Hiroshi, Inokura Kyoko, Onodera Koichi, Fukuhara Noriko, Onishi Yasushi, Yokoyama Hisayuki, Harigae Hideo
Tohoku University.
Department of Hematology, Tohoku University Hospital.
Rinsho Ketsueki. 2024;65(3):147-152. doi: 10.11406/rinketsu.65.147.
A 41-year-old woman with right shoulder pain was found to have multiple tumors with osteolysis and M-proteinemia. Abnormal plasma cells (CD38+, CD138+, Igλ≫κ) were detected in 1.4% of bone marrow nucleated cells, and G-banding analysis revealed a 46,XX,t (8;14), (q24;q32) karyotype in 4 of 20 cells analyzed. A biopsy specimen from an extramedullary lesion had a packed proliferation of aberrant plasmacytoid cells with positive IgH::MYC fusion signals on fluorescence in situ hybridization. The patient was diagnosed with symptomatic multiple myeloma and treated with the BLd regimen, which significantly reduced M protein levels. Extramedullary lesions were initially reduced, but increased again after four cycles. The lesions disappeared with subsequent EPOCH chemotherapy and radiation, and complete remission was confirmed. The patient was then treated with high-dose chemotherapy with autologous peripheral blood stem cell transplantation. Complete remission was maintained for over one year with lenalidomide maintenance therapy. A solitary IgH::MYC chromosomal translocation is extremely rare in multiple myeloma and may be associated with high tumor proliferative capacity, multiple extramedullary lesions, and poor prognosis. Combined therapeutic modalities with novel and conventional chemotherapy and radiation might be a promising treatment strategy for patients with this type of multiple myeloma.
一名41岁右肩疼痛的女性被发现患有多处溶骨性肿瘤和M蛋白血症。在1.4%的骨髓有核细胞中检测到异常浆细胞(CD38 +、CD138 +、Igλ≫κ),对20个细胞进行G显带分析,其中4个细胞的核型为46,XX,t(8;14),(q24;q32)。来自髓外病变的活检标本有大量异常浆细胞样细胞增殖,荧光原位杂交显示IgH::MYC融合信号呈阳性。该患者被诊断为有症状的多发性骨髓瘤,并接受BLd方案治疗,M蛋白水平显著降低。髓外病变最初缩小,但四个周期后再次增大。随后的EPOCH化疗和放疗使病变消失,并确认达到完全缓解。然后患者接受了高剂量化疗及自体外周血干细胞移植。来那度胺维持治疗使完全缓解维持了一年多。孤立的IgH::MYC染色体易位在多发性骨髓瘤中极为罕见,可能与肿瘤增殖能力高、多处髓外病变及预后不良有关。新型和传统化疗及放疗联合治疗方式可能是这类多发性骨髓瘤患者的一种有前景的治疗策略。