近四倍体克隆可从超二倍体克隆进化而来，并导致多发性骨髓瘤患者对来那度胺和硼替佐米产生耐药性。

Near-tetraploidy clone can evolve from a hyperdiploidy clone and cause resistance to lenalidomide and bortezomib in a multiple myeloma patient.

机构信息

Department of Pathology, Medical College of Georgia, Augusta, GA 30912, USA.

出版信息

Leuk Res. 2010 Jul;34(7):954-7. doi: 10.1016/j.leukres.2010.01.013.

DOI:10.1016/j.leukres.2010.01.013

PMID:20138360

Abstract

Aneuploidy is a very common prognostic factor in multiple myeloma (MM). Nonhyperdiploidy including near-tetraploidy (NT) is a poor prognostic indicator, compared to hyperdiploidy in multiple myeloma (MM). NT results from endoduplication of hypodiploidy. We report of a 55-year-old female patient diagnosed with advanced stage MM with hyperdiploidy and t(8;14)(q24;q32). The patient responded well to lenalidomide and dexamethasone for approximately 1 year. At the time of progression, she had become unresponsive to lenalidomide and subsequently bortezomib, and was found to have NT and loss of choromosome 13. There is another reported patient who had a possible interchange from nonhyperdiploidy to hyperdiploidy status, however, artifact could not be ruled out. To our knowledge, this is the first patient in whom evolution of an abnormal clone from a hyperdiploidy to a NT abnormal clone has been confirmed during the natural course of MM. This evolution is associated with resistance to novel drugs and poor prognosis in MM.

摘要

非整倍体是多发性骨髓瘤（MM）中非常常见的预后因素。与 MM 中的超二倍体相比，非超二倍体（包括近四倍体（NT））是预后不良的指标。NT 是由亚二倍体的内复制产生的。我们报告了一例 55 岁女性患者，诊断为晚期 MM，具有超二倍体和 t(8;14)(q24;q32)。该患者对来那度胺和地塞米松治疗反应良好，约 1 年。在进展时，她对来那度胺和随后的硼替佐米无反应，并且发现存在 NT 和 13 号染色体缺失。另有报道称，一名患者可能从非超二倍体状态转变为超二倍体状态，但不能排除人为因素。据我们所知，这是在 MM 的自然病程中，首次确认从超二倍体异常克隆演变为 NT 异常克隆的患者。这种演变与对新型药物的耐药性和 MM 的不良预后相关。