[多发性骨髓瘤伴IgH::MYC和多发性髓外病变]。

Yuto Sasaki, Satoshi Ichikawa, Kazuki Sakurai, Hiroshi Nakamura, Kyoko Inokura, Koichi Onodera, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Hideo Harigae
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摘要

一名 41 岁女性因右肩疼痛而被发现患有多发性肿瘤,并伴有骨溶解和 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),G-带分析显示,在分析的20个细胞中有4个细胞的核型为46,XX,t (8;14),(q24;q32)。髓外病灶的活检标本显示,异常浆细胞密集增殖,荧光原位杂交显示 IgH::MYC 融合信号阳性。患者被诊断为无症状多发性骨髓瘤,并接受了 BLd 方案治疗,该方案显著降低了 M 蛋白水平。髓外病变最初有所减少,但四个周期后又有所增加。随后的 EPOCH 化疗和放疗使病灶消失,并确认完全缓解。随后,患者接受了大剂量化疗和自体外周血干细胞移植。来那度胺维持治疗后,完全缓解维持了一年多。单发的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强、多发性髓外病变和预后不良有关。对这种类型的多发性骨髓瘤患者来说,新型和传统化疗及放疗联合治疗可能是一种很有前景的治疗策略。
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[Multiple myeloma with IgH::MYC and multiple extramedullary lesions].

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.

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[Acquired thrombotic thrombocytopenic purpura during durvalumab monotherapy for non-small cell lung cancer]. [Durable remission of T-cell prolymphocytic leukemia with CLEC16A::IL2 after allogeneic hematopoietic stem cell transplantation]. [Kidney transplantation for end-stage renal disease after third allogeneic hematopoietic stem cell transplantation for Philadelphia chromosome-positive acute lymphoblastic leukemia]. [Multiple myeloma with myelofibrosis at diagnosis and aggressive extramedullary relapse after autologous stem cell transplantation].
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