[Multiple myeloma with t (8;14) and t (11;14) and extramedullary infiltration of multiple organs].

Shinnosuke Tokuda, Koshiro Sakamoto, Makiko Mizuguchi, Yasunobu Okamoto, Hikaru Yagi, Kumiko Kagawa, Hironobu Shibata, Hideko Endo, Shuji Ozaki
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Abstract

A 69-year-old man presented with lumbago and was diagnosed with multiple myeloma (IgD-λ type, R-ISS stage II) with bone-destructive lesions in the lumbar spine and sacrum. Chromosome analysis showed t (8;14)(q24;q32) and t (11;14)(q13;q32). Treatment with daratumumab, lenalidomide, and dexamethasone resulted in partial response, but the disease relapsed, with a copy number increase in t (11;14) and abnormal amplification of the 1q21 region. The patient was treated for CMV enteritis, and was admitted to the hospital due to sudden abdominal pain. Gastrointestinal perforation was diagnosed by CT scan showing free air and wall thickening in the small intestine. Emergency surgery was performed, and the tumors in the perforated area were positive for CCND1 but negative for MYC on immunostaining. The patient's general condition did not improve after the surgery and he died. Pathological autopsy revealed extramedullary infiltration of multiple organs in addition to the small intestine. Extramedullary infiltration is thought to be caused by clonal evolution, and further research is warranted to clarify its pathogenesis and establish effective therapeutic strategies in high-risk patients.

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[多发性骨髓瘤,伴有 t (8;14) 和 t (11;14) 以及多个器官的髓外浸润]。
一名69岁的男子因腰痛就诊,被诊断为多发性骨髓瘤(IgD-λ型,R-ISS II期),腰椎和骶骨有骨破坏性病变。染色体分析显示其染色体为t(8;14)(q24;q32)和t(11;14)(q13;q32)。达拉单抗、来那度胺和地塞米松治疗后,患者出现部分应答,但病情复发,t(11;14)拷贝数增加,1q21区域异常扩增。患者曾因 CMV 肠炎接受治疗,后因突发腹痛入院。CT 扫描显示小肠内有游离空气和肠壁增厚,诊断为胃肠穿孔。患者接受了急诊手术,穿孔部位的肿瘤免疫染色显示 CCND1 阳性,但 MYC 阴性。手术后,患者的全身状况没有改善,最终死亡。病理解剖显示,除小肠外,髓外肿瘤还浸润了多个器官。髓外浸润被认为是由克隆进化引起的,需要进一步研究以明确其发病机制,并为高危患者制定有效的治疗策略。
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