Hemsing Anette Lodvir, Gjertsen Bjørn Tore, Spetalen Signe, Helgeland Lars, Reikvam Håkon
Section of Hematology, Department of Medicine, Haukeland University Hospital, Bergen, Norway.
Department of Clinical Science, University of Bergen, Bergen, Norway.
SAGE Open Med Case Rep. 2021 Jan 22;9:2050313X20988413. doi: 10.1177/2050313X20988413. eCollection 2021.
The entity myelodysplastic syndrome/myeloproliferative neoplasm overlap syndrome is characterized by the coexistence of both myeloproliferative and myelodysplastic features in the bone marrow. Risk assessment and treatment recommendations have not been standardized, and clinicians rely on updated patient studies and reviews to make decisions for treatment approaches. Histopathological features have traditionally been important, although in the last decade, several studies have reported mutational profiles of this rare disease. Here, we present a case, wherein the patient presented with leukocytosis and the diagnostic work-up revealed features of myelodysplastic syndrome/myeloproliferative neoplasm overlap syndrome. Mutational profiling revealed mutations in four genes associated with myeloid malignancies, namely, , and . After initial therapy with hydroxyurea and interferon-α, the patient underwent allogeneic hematopoietic stem cell transplantation, with reduced intensity conditioning and a matched sibling donor. He had no signs of relapsed disease 2 years after the transplant. Based on the patient outcome, we summarize the diagnostic and therapeutic approaches for patients diagnosed with myelodysplastic syndrome/myeloproliferative neoplasm overlap syndrome, and review the current literature, emphasizing the role of genetic mutations and allogeneic hematopoietic stem cell transplantation. Larger and more detailed clinical studies are strongly needed to optimize and standardize diagnostic and therapeutic approaches for this disease.
骨髓增生异常综合征/骨髓增殖性肿瘤重叠综合征的特征是骨髓中同时存在骨髓增殖性和骨髓发育异常的特征。风险评估和治疗建议尚未标准化，临床医生依靠最新的患者研究和综述来决定治疗方法。传统上，组织病理学特征很重要，尽管在过去十年中，几项研究报告了这种罕见疾病的突变谱。在此，我们报告一例患者，该患者表现为白细胞增多，诊断检查显示为骨髓增生异常综合征/骨髓增殖性肿瘤重叠综合征。突变分析揭示了与髓系恶性肿瘤相关的四个基因发生突变，即 、 和 。在用羟基脲和α干扰素进行初始治疗后，该患者接受了异基因造血干细胞移植，采用了减低强度预处理并使用了匹配的同胞供体。移植后2年，他没有疾病复发的迹象。基于该患者的治疗结果，我们总结了诊断为骨髓增生异常综合征/骨髓增殖性肿瘤重叠综合征患者的诊断和治疗方法，并回顾了当前文献，强调了基因突变和异基因造血干细胞移植的作用。迫切需要开展更大规模、更详细的临床研究，以优化和规范该疾病的诊断和治疗方法。
