Toorani Zainab A, Radhi Ameera A, Hassan Merna M, Aloraibi Ameera A
Pathology, Salmaniya Medical Complex, Manama, BHR.
Hematopathology, Salmaniya Medical Complex, Manama, BHR.
Cureus. 2023 Jul 17;15(7):e41988. doi: 10.7759/cureus.41988. eCollection 2023 Jul.
Myelodysplastic neoplasia (MDS) is a group of stem cell disorders involving ineffective hematopoiesis. It can be associated with an increased risk of progression toward acute myeloid leukemia (AML). In Bahrain, MDS is the fifth most common primary hematologic malignancy. MDS has an annual incidence of up to 4 million cases. Some of the presenting signs and symptoms of MDS are often nonspecific, such as fatigue, pallor, malaise, fevers, bleeding, bruising, weight loss, and anorexia. Approximately 40% of patients with MDS progress to AML. This paper outlines a case of a 3-year-old Bahraini male (known to have sickle cell trait) who presented to the emergency department of Salmaniya Medical Complex with a five-day history of fever, congested throat, left ear pain, and abdominal pain. He had one episode of vomiting gastric content the previous day. He had previously gone to a private clinic with similar symptoms. Physical examination revealed a short neck and short stature, which was found to be below the 5 percentile. He had generalized pallor and hepatosplenomegaly. A blood smear showed leukopenia and normochromic normocytic anemia. There were excessive blasts found which consisted of 17% of nucleated cells and few granulopoietic cells. Erythropoiesis was active with a few showing mild megaloblastic changes. There were rare megakaryocytes noted. Moreover, the bone marrow aspirate showed two populations on dim CD45. The first population consisted of 3.15% on dim CD45 comprising of hematogones which brightly expressed CD19, HLA-DR, CD79a, and dim CD10. The second population consisted of 14.85% on dim CD45 which expressed CD34, CD13, CD117, HLA-DR, and dim CD7. Based on the peripheral blood smear and bone marrow immunophenotyping findings, a diagnosis of myelodysplastic syndrome with excessive blasts was made, which soon transformed into a diagnosis of AML. Furthermore, increased levels of dysplastic changes and percentage of blasts in the peripheral blood smear and bone marrow lead to a higher possibility of transformation into AML. As per the WHO classification, a diagnosis of MDS needs evaluation of the morphology of blood and bone marrow.
骨髓增生异常肿瘤（MDS）是一组涉及无效造血的干细胞疾病。它可能与进展为急性髓系白血病（AML）的风险增加有关。在巴林，MDS是第五大常见的原发性血液系统恶性肿瘤。MDS的年发病率高达400万例。MDS的一些临床表现和症状通常是非特异性的，如疲劳、苍白、不适、发热、出血、瘀伤、体重减轻和厌食。大约40%的MDS患者会进展为AML。本文概述了一例3岁巴林男性（已知有镰状细胞性状）的病例，该患者因发热、咽喉充血、左耳疼痛和腹痛5天就诊于萨勒曼尼亚医疗中心急诊科。前一天他有一次呕吐胃内容物的情况。他之前曾因类似症状去过一家私人诊所。体格检查发现颈部短和身材矮小，低于第5百分位。他有全身苍白和肝脾肿大。血液涂片显示白细胞减少和正色素正细胞性贫血。发现有过多的原始细胞，占核细胞的17%，粒细胞生成细胞很少。红细胞生成活跃，少数有轻度巨幼细胞改变。有罕见的巨核细胞。此外，骨髓穿刺显示在低表达CD45上有两个细胞群。第一个细胞群在低表达CD45上占3.15%，由明亮表达CD19、HLA-DR、CD79a和低表达CD10的造血细胞组成。第二个细胞群在低表达CD45上占14.85%，表达CD34、CD13、CD117、HLA-DR和低表达CD7。根据外周血涂片和骨髓免疫表型分析结果，诊断为伴有过多原始细胞的骨髓增生异常综合征，很快转变为AML的诊断。此外，外周血涂片和骨髓中发育异常变化水平和原始细胞百分比的增加导致转化为AML的可能性更高。根据世界卫生组织的分类，MDS的诊断需要评估血液和骨髓的形态。
