Tang Xinyu, Xu Ruirong, Zheng Wei, Zhou Yanfeng, Cui Siyuan, Wang Yan
The First Clinical Medical College of Shandong University of Traditional Chinese Medicine, Jinan, China.
Department of Hematology, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Jinan, China.
Heliyon. 2024 Apr 2;10(7):e28950. doi: 10.1016/j.heliyon.2024.e28950. eCollection 2024 Apr 15.
Cytogenetic karyotypes such as t(4; 14), del(17p), t(14; 16), t(14; 20), and mutations are associated with high-risk multiple-myeloma (MM) and indicate poor prognosis. Therefore, cytogenetic testing is extremely important for determining prognosis of MM. However, the aberrant karyotypes reported in the current literature are incomplete. The cytogenetic karyotype 17p gain has not received widespread attention, and its relationship with MM prognosis is unknown; additionally, the prognosis of 17p gain associated with t(4; 14) has not been studied in depth. Therefore, we introduce a special case in which a patient had both 17p gain and t(4; 14). An 81-year-old woman was admitted to the Affiliated Hospital of Shandong University of Traditional Chinese Medicine for stomach discomfort. The patient had no relevant medical history. Laboratory tests, immunophenotyping, and haematological results suggested MM, and cytogenetic tests indicated 17p gain and t(4; 14) with no other abnormalities. She was treated with two different chemotherapeutic regimens and achieved very good partial response, but eventually experienced biochemical relapses after discontinuing therapy. However, she eventually achieved good disease control with a bortezomib, lenalidomide, and dexamethasone-based regimen; she has survived longer than 5 years, much longer than the 1 year reported for MM patients with t(4:14), and been progression-free more than 3 years. We use this case to explore the possible relationship between the 17p gain and prognosis of patients with MM, as well as the treatment of MM with high-risk cytogenetic karyotypes. This case enriches the clinical application of cytogenetic analysis and adds important indicators for the prognosis of MM patients.
细胞遗传学核型,如t(4;14)、del(17p)、t(14;16)、t(14;20)以及基因突变与高危多发性骨髓瘤(MM)相关,提示预后不良。因此,细胞遗传学检测对于确定MM的预后极为重要。然而,当前文献报道的异常核型并不完整。细胞遗传学核型17p增加尚未受到广泛关注,其与MM预后的关系尚不清楚;此外,与t(4;14)相关的17p增加的预后尚未得到深入研究。因此,我们介绍一个特殊病例,该患者同时存在17p增加和t(4;14)。一名81岁女性因胃部不适入住山东中医药大学附属医院。该患者无相关病史。实验室检查、免疫表型分析和血液学检查结果提示为MM,细胞遗传学检测显示17p增加和t(4;14),无其他异常。她接受了两种不同的化疗方案治疗,获得了非常好的部分缓解,但最终在停止治疗后出现生化复发。然而,她最终通过基于硼替佐米、来那度胺和地塞米松的方案实现了良好的疾病控制;她存活超过5年,远长于报道的t(4:14)MM患者的1年生存期,且无进展生存期超过3年。我们利用该病例探讨17p增加与MM患者预后之间的可能关系,以及高危细胞遗传学核型MM的治疗。该病例丰富了细胞遗传学分析的临床应用,并为MM患者的预后增加了重要指标。