Abdel-Qader Hadeel Yaseen, Fouad Dina Adel, Abuelela Soha Ahmed, Ismail Heba Mohamed Atif, Boshnaq Noha Hussein
Clinical Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Egypt J Med Hum Genet. 2022;23(1):66. doi: 10.1186/s43042-022-00220-0. Epub 2022 Mar 16.
Multiple myeloma (MM) is a proliferation of monoclonal plasma cells that accumulate in bone marrow, leading to bone destruction and marrow failure. Cytogenetic analysis is a challenge in MM because of the low mitotic activity and the rapid loss of plasma cells viability in bone marrow culture. Adding mitogens such as interleukin 6 (IL6) is known to promote the in vitro growth of myeloma cell lines and enhance the fluorescence in situ hybridization application. This study aims to evaluate the prognostic impact of cytogenetic abnormalities detected by enhanced interphase fluorescence in situ hybridization (iFISH) technique in Egyptian MM patients.
Patients who had hyperdiploidy significantly presented with higher Hb level and lower calcium levels compared to non-hyperdiploid patients. They were staged as stage I and II by International staging system (ISS) and considered as standard risk showing better response to treatment. On the contrary, features associated with a worse outcome were patients having del 17p and those belonged to intermediate and high risk groups.
In conclusion, adding interleukin 6 to MM cell culture promotes the in vitro growth of myeloma cells and enhances the successful application of FISH technique. A comprehensive FISH probe set investigating high, intermediate and low-risk cytogenetic abnormalities is needed for accurate risk stratification. Hyperdiploid-myeloma is a favorable risk genetic subtype of MM associated with rapid response to therapy compared to patients having del 17p, t(4;14), and other 14q rearrangements rather than t(11;14) and t(6;14).
多发性骨髓瘤（MM）是单克隆浆细胞的增殖，这些细胞积聚在骨髓中，导致骨质破坏和骨髓衰竭。由于有丝分裂活性低以及骨髓培养中浆细胞活力快速丧失，细胞遗传学分析在MM中是一项挑战。已知添加有丝分裂原如白细胞介素6（IL6）可促进骨髓瘤细胞系的体外生长并增强荧光原位杂交的应用。本研究旨在评估通过增强的间期荧光原位杂交（iFISH）技术检测到的细胞遗传学异常对埃及MM患者的预后影响。
与非超二倍体患者相比，超二倍体患者的血红蛋白水平显著更高，钙水平更低。他们根据国际分期系统（ISS）被分期为I期和II期，并被视为标准风险，显示出对治疗的更好反应。相反，与较差预后相关的特征是有17p缺失的患者以及属于中高危组的患者。
总之，向MM细胞培养中添加白细胞介素6可促进骨髓瘤细胞的体外生长并增强FISH技术的成功应用。需要一套全面的FISH探针组来研究高、中、低风险的细胞遗传学异常，以进行准确的风险分层。与有17p缺失、t(4;14)以及其他14q重排而非t(11;14)和t(6;14)的患者相比，超二倍体骨髓瘤是MM的一种有利风险遗传亚型且与对治疗的快速反应相关。
