具有不寻常TFG-ALK融合的非分泌性多发性骨髓瘤对ALK抑制表现出显著反应。

Masood Ashiq, Christ Trevor, Asif Samia, Rajakumar Priya, Gustafson Beth A, Shune Leyla O, Salahudeen Ameen, Nedvad Drew, Nanua Suparna, Paner Agne, Kuzel Timothy M, Levy Mia, Subramanian Janakiraman, Raza Shahzad

Division of Hematology/Oncology and Cell Therapy, Rush University Medical Center, Chicago, IL, 60612, USA.

Rush Precision Oncology Program, Rush University Medical Center, Chicago, IL, 60612, USA.

NPJ Genom Med. 2021 Mar 17;6(1):23. doi: 10.1038/s41525-021-00186-9.

Non-secretory multiple myeloma (NSMM) constitutes a distinct entity of multiple myeloma characterized by the absence of detectable monoclonal protein and rarely an absence of free light chains in the serum and urine. Given its rarity, the genomic landscape, clinical course, and prognosis of NSSM are not well characterized. Here, we report a case of a patient with relapsed and refractory NSMM with brain metastasis harboring a TFG-ALK fusion showing a dramatic and durable (over two years) response to commercially available anaplastic lymphoma kinase (ALK) inhibitors. The case emphasizes the beneficial role of molecular profiling in this target-poor disease.

非分泌型多发性骨髓瘤（NSMM）是多发性骨髓瘤的一种独特类型，其特征是血清和尿液中检测不到单克隆蛋白，且很少没有游离轻链。鉴于其罕见性，NSMM的基因组格局、临床病程和预后尚未得到充分描述。在此，我们报告一例复发难治性NSMM伴脑转移患者的病例，该患者存在TFG-ALK融合，对市售的间变性淋巴瘤激酶（ALK）抑制剂表现出显著且持久（超过两年）的反应。该病例强调了分子谱分析在这种缺乏靶向治疗的疾病中的有益作用。