摘要
背景多发性骨髓瘤（MM）的特征通常是局限于骨髓的克隆性浆细胞增殖。然而，一小部分多发性骨髓瘤患者会出现髓外疾病（EMD）：1.7%-4.5%的新诊断多发性骨髓瘤（ND/MM）和3.4%-10%的复发或难治性多发性骨髓瘤（RR/MM）患者会出现这种类型的定位，而且似乎对预后有不良影响。在本报告中，我们描述了一例非常罕见的 ND/MM 患者脾脏受累的病例。 病例 一位 72 岁的女性患者于 2022 年 6 月因气喘和腹痛被转诊到维泰博的圣罗莎医院。体检时发现脾脏肿大，伴有贫血（血红蛋白 10.5 g/dL）和血小板减少（48 × 109/L）。腹部超声波检查证实脾脏肿大（纵向直径 20 厘米）。血液检测显示游离轻链改变，λ/κ比值为800。骨髓穿刺显示60%的λ限制性未成熟浆细胞：91%的浆细胞存在p53表达。正电子发射断层扫描/计算机断层扫描（PET/CT）显示，骨骼中有多个代谢活动增加的病灶区域，脾脏也有广泛的阳性，病灶区域的摄取量较高。患者被诊断为伴有脾脏EMD的MM，并开始接受Dara-VMP方案（daratumumab、硼替佐米、美法仑和泼尼松）治疗。第一个治疗周期结束后，患者的脾脏明显缩小，血红蛋白水平和血小板计数均有所上升。然而，在第二个治疗周期后，她的病情演变为浆细胞白血病：于是开始采用 Vd-PACE 方案（硼替佐米、地塞米松、顺铂、多柔比星、环磷酰胺和依托泊苷），但在第二个治疗周期后，她于 2022 年 10 月死于脓毒性休克和多器官功能衰竭。 结论 我们这例非常罕见的ND/MM脾脏受累病例证实了EMD的侵袭性，预后不良（p53基因突变）和一线高效治疗失败。因此，有必要收集类似病例，以充分了解这些极为罕见患者的临床特征和可能的替代方法。
Background
Multiple myeloma (MM) is more often characterized by clonal plasma cell proliferation restricted to the bone marrow. However, a small percentage of patients with MM develop extramedullary disease (EMD): this type of localization is found in 1.7%–4.5% of the newly diagnosed MM (ND/MM) and in 3.4%–10% of patients with relapsed or refractory disease (RR/MM) and seems to have a bad prognostic impact. In the present report, we describe a very rare case of splenic involvement in a patient with ND/MM.
Case
A 72-year-old female was referred to Santa Rosa Hospital of Viterbo in June 2022 with asthenia and abdominal pain. At physical examination, spleen enlargement was detected, with anemia (Hb 10.5 g/dL) and thrombocytopenia (48 × 109/L). Abdominal echography confirmed spleen enlargement (20 cm of longitudinal diameter). Blood tests showed free light chain alteration with a λ/κ ratio of 800. Marrow aspiration showed 60% of λ-restricted immature plasma cells: p53 expression was present in 91% of elements. Positron emission tomography/computed tomography (PET/CT) scan revealed multiple focal areas of increased metabolic activity in the bones and a widespread positivity of the spleen with focal areas of higher uptake. A diagnosis of MM with splenic EMD was made, and the Dara-VMP regimen (daratumumab, bortezomib, melphalan, and prednisone) was started. After the first cycle of therapy, a marked reduction in spleen size was observed with an increase in both Hb level and platelet count. After the second cycle of therapy, however, there was evolution into plasma cell leukemia: the Vd-PACE regimen (bortezomib, dexamethasone, cisplatin, doxorubicin, cyclophosphamide, and etoposide) was thus started, but after the second cycle, she died in October 2022 from septic shock and multiorgan failure.
Conclusions
Our very rare case of ND/MM with spleen involvement confirms the aggressive behaviour of EMD, with negative prognostic factors (p53 mutation) and failure to frontline highly effective therapy. In the other few cases of spleen involvement reported, however, there were only scarce details about response: as a consequence, collection of similar cases is warranted to fully understand clinical features and possible alternative approaches for these extremely rare patients.
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