Kapoor Rajan, Kumar Rajiv, Dubey A P
Medicine and Clinical Hematology, Command Hospital (EC), Kolkata, India.
Department of Medicine and Clinical Hematology, INHS Asvini, R C Church, Colaba, Mumbai, 400005 India.
Indian J Hematol Blood Transfus. 2020 Jul;36(3):464-472. doi: 10.1007/s12288-019-01240-4. Epub 2019 Dec 14.
Multiple myeloma (MM) constitutes 10% of all hematological malignancies. The last one decade has seen a phenomenal progress in the therapeutic options available for the management. Although it still remains incurable, with the advent of newer therapies, the median survival in many risk groups is now around 10 years. Conventional karyotyping of bone marrow samples has a positivity rate of 20-30% at diagnosis in patients of Multiple Myeloma. However, array Comparative Genomic Hybridisation (aCGH) has revealed that almost all MM patients have cytogenetic abnormalities which may affect the pathophysiology, selection of therapy and outcomes of the disease. The progress in the field of exploring the genetic landscape of multiple myeloma with multiple tools like Fluorescent in-situ hybridization, aCGH, Next Generation Sequencing, Flow cytometry, etc., combined with the traditional risk stratification markers like albumin, β2 microglobulin and LDH, is gradually leading towards a risk-adapted therapy. The recent R-ISS risk stratification has combined these two group of information to validate a prognostic score which is an improvement over the past tools like DSS and ISS. In view of the plethora of information available on the multitude of cytogenetic markers there is a tendency to evaluate for all of them at diagnosis, especially in research centers. This leads to a significant increase in the cost of therapy of Multiple Myeloma in day-to-day clinical practice and an increased out-of-pocket spending to the patient, especially in resource-limited settings like India. Also, there is a variable approach to pre-therapy cytogenetic evaluation and risk stratification at different Hematology centres in the country, often dictated by financial constraints and availability of specialized tests. This review discusses the risk stratification markers and tools available in MM in 2019 and how it can be adapted in the resource constraint settings so as to derive the maximum prognostic information from a minimal prognostic panel, as well as lead to standardization of the prognostic protocols in resource limited settings across various Hematology centres in India.
多发性骨髓瘤（MM）占所有血液系统恶性肿瘤的10%。在过去十年中，MM的治疗选择取得了显著进展。尽管它仍然无法治愈，但随着新疗法的出现，许多风险组的中位生存期现在约为10年。多发性骨髓瘤患者诊断时骨髓样本的传统核型分析阳性率为20%-30%。然而，阵列比较基因组杂交（aCGH）显示，几乎所有MM患者都有细胞遗传学异常，这可能会影响疾病的病理生理学、治疗选择和预后。利用荧光原位杂交、aCGH、下一代测序、流式细胞术等多种工具探索多发性骨髓瘤基因图谱领域的进展，结合白蛋白、β2微球蛋白和乳酸脱氢酶等传统风险分层标志物，正逐渐走向风险适应性治疗。最近的R-ISS风险分层结合了这两组信息，以验证一个预后评分，这是对过去如DSS和ISS等工具的改进。鉴于有大量关于众多细胞遗传学标志物的信息，在诊断时倾向于对所有标志物进行评估，尤其是在研究中心。这导致多发性骨髓瘤日常临床治疗成本大幅增加，患者自付费用增加，特别是在印度等资源有限的环境中。此外，该国不同血液学中心在治疗前细胞遗传学评估和风险分层方面的方法各不相同，这往往取决于经济限制和专业检测的可用性。本综述讨论了2019年MM中可用的风险分层标志物和工具，以及如何在资源受限环境中进行调整，以便从最小的预后指标中获得最大的预后信息，并导致印度各血液学中心资源有限环境中预后方案的标准化。
