PDF(Pubmed)
Abstract：
Myelodysplastic syndrome (MDS) represents a group of hematologic disorders marked by abnormal cellular development in the bone marrow, while monoclonal gammopathy of undetermined significance (MGUS) involves abnormal plasma cells without symptomatic manifestations. This paper presents a compelling case of a 74-year-old Hispanic female diagnosed with a rare combination of high-risk MDS characterized by a complex karyotype and TP53 mutation, alongside IgG lambda MGUS. The patient\'s clinical presentation included a spectrum of symptoms such as body aches, rash, fever, dyspnea, and bloody watery diarrhea. Initial diagnostic evaluations yielded no significant findings, but subsequent investigations revealed abnormalities in both bone marrow and peripheral blood, indicative of coexisting MDS and MGUS. Chromosomal analysis further confirmed the presence of a complex karyotype with multiple aberrations, notably including 5q deletion. This case underscores the rarity of simultaneous high-risk MDS and MGUS, particularly with the additional complexity of a TP53 mutation and complex karyotype. It underscores the imperative for continued research efforts to elucidate the underlying mechanisms and optimal management strategies for such intricate cases. Moreover, it highlights the therapeutic challenges posed by concurrent MDS and plasma cell disorders, advocating for more aggressive interventions such as stem cell transplantation as potential avenues for improved patient outcomes.
摘要：
骨髓增生异常综合征（MDS）代表一组以骨髓细胞发育异常为特征的血液系统疾病，而意义不明的单克隆丙种球蛋白病（MGUS）涉及无症状表现的异常浆细胞。本文介绍了一个令人信服的案例，一个74岁的西班牙裔女性被诊断为罕见的高风险MDS组合，其特征是复杂的核型和TP53突变。与IgGλMGUS一起。患者的临床表现包括一系列症状，如身体疼痛，皮疹,发烧,呼吸困难,血淋淋的水样腹泻.最初的诊断评估没有产生重大发现，但随后的调查显示骨髓和外周血异常，指示MDS和MGUS共存。染色体分析进一步证实了具有多个畸变的复杂核型的存在，特别是包括5q删除。该病例强调了同时发生高风险MDS和MGUS的罕见，特别是TP53突变和复杂核型的额外复杂性。它强调必须继续进行研究，以阐明此类复杂案件的基本机制和最佳管理策略。此外，它强调了并发MDS和浆细胞疾病带来的治疗挑战，倡导更积极的干预措施，如干细胞移植，作为改善患者预后的潜在途径。
