Rivera Troia Felix, Ocasio Villa Fernando J
Surgery, University of Medicine & Health Science, Mayaguez, PRI.
Genetics, Ponce Health Sciences University, Ponce, PRI.
Cureus. 2024 Jul 1;16(7):e63563. doi: 10.7759/cureus.63563. eCollection 2024 Jul.
Multiple myeloma (MM) is one of the world's most recognized bone marrow (BM) cancers. It is considered a plasma cell dyscrasia in which normal plasma cells transform into malignant cells that produce large quantities of an abnormal immunoglobulin called monoclonal protein better known as M protein. This, in turn, is responsible for many of its bone and kidney-related manifestations. Many translocations are associated with the disease, such as t(11;14), t(4;14), and t(14;16). Of these, the most common is t(11;14). In this subset of MM, there is a specific genetic alteration affecting the CCND1 gene. Typically inactive in plasma cells, this gene, when disrupted, promotes uncontrolled cell proliferation. Simultaneously, there is a reduction in CD38 levels, a protein typically elevated in MM patients. This combination of genetic and protein expression is a defining feature of this subgroup within the MM spectrum. In this report, we present a case of a 75-year-old male who was referred by an oncologist for comprehensive diagnostic testing. He was found to have significant hyperploidy involving trisomy 9 and an extra copy of CCND1 with concomitant trisomy 11q confirming a t(11;14) translocation. Further workup involving cytology revealed that the patient also expressed elevated levels of CD38, which, given this mutation, would be expected to be low in this patient population. We aim to highlight the importance and prognostic value of this mutation and further add to the already growing body of literature associated with this disease.
多发性骨髓瘤(MM)是全球最常见的骨髓癌之一。它被认为是一种浆细胞发育异常疾病,其中正常浆细胞转变为恶性细胞,这些恶性细胞会产生大量异常免疫球蛋白,即单克隆蛋白,更熟知的名称是M蛋白。这进而导致了许多与骨骼和肾脏相关的临床表现。许多染色体易位与该疾病相关,如t(11;14)、t(4;14)和t(14;16)。其中,最常见的是t(11;14)。在这一MM亚组中,存在一种影响CCND1基因的特定基因改变。该基因在浆细胞中通常处于无活性状态,当受到破坏时,会促进细胞不受控制地增殖。同时,CD38水平降低,而该蛋白在MM患者中通常会升高。这种基因和蛋白表达的组合是MM谱系中这一亚组的一个决定性特征。在本报告中,我们呈现了一例75岁男性病例,该患者由肿瘤学家转诊进行全面诊断测试。发现他存在显著的超二倍体,涉及9号染色体三体以及CCND1额外拷贝,并伴有11号染色体长臂三体,证实存在t(11;14)易位。进一步的细胞学检查显示,该患者还表达了升高的CD38水平,鉴于这种突变,在该患者群体中预计其水平会较低。我们旨在强调这种突变的重要性和预后价值,并进一步丰富与该疾病相关的已有文献。