Qing Xin, Cai Jennifer, Rock Adam
Harbor-UCLA Medical Center, Department of Pathology, Torrance, CA, USA.
Harbor-UCLA Medical Center, Department of Internal Medicine, Torrance, CA, USA.
Autops Case Rep. 2021 Apr 20;11:e2021274. doi: 10.4322/acr.2021.274.
Myelodysplastic syndromes (MDS) mainly occur in the elderly but can rarely affect younger individuals too. The correct diagnosis relies on careful morphologic evaluation, cytogenetic/molecular results, and excluding reactive conditions mimicking MDS. We present the clinical, pathologic, cytogenetic, and molecular features of a case of MDS with excess blasts-2 (MDS-EB-2) in a 30-year-old male who was found to have pancytopenia during his hospitalization for coronavirus disease 2019 (COVID-19) and discuss the diagnostic challenges of MDS in patients with COVID-19.
A 30-year-old man presented to an outside hospital with fever, chills, weakness, coughing spells, dizziness and shortness of breath and was diagnosed with bilateral pneumonia due to COVID-19. At the outside hospital, he was found to be pancytopenic, and a subsequent bone marrow aspiration and biopsy raised concern for a COVID-19 induced hemophagocytic lymphohistiocytosis. In addition, MDS could not be ruled out. The patient was thus referred to our institute for further management. The patient's peripheral blood showed pancytopenia with occasional dysplastic neutrophils and a few teardrop cells. Given the diagnostic uncertainty, a bone marrow aspiration and a biopsy were repeated revealing a hypercellular bone marrow with erythroid hyperplasia, megakaryocytic hyperplasia, trilineage dysplasia, increased blasts (13%), many ring sideroblasts, and mild to moderate myelofibrosis, consistent with MDS-EB-2. Chromosomal analysis revealed isochromosome 14. Next generation sequencing demonstrated SF3B1 K700E mutation.
The diagnosis of MDS can be challenging, particularly in young patients. Cytopenia and myelodysplastic features have been reported in COVID-19 patients, making the diagnosis of MDS more elusive. A careful pathologic examination of the bone marrow with ancillary studies including flow cytometry, immunohistochemistry, and cytogenetic and molecular studies in combination with a thorough clinical evaluation, leads to the accurate diagnosis.
骨髓增生异常综合征（MDS）主要发生于老年人，但也很少会影响到年轻人。正确的诊断依赖于仔细的形态学评估、细胞遗传学/分子学结果，以及排除类似MDS的反应性情况。我们报告了一名30岁男性MDS伴过多原始细胞-2（MDS-EB-2）病例的临床、病理、细胞遗传学和分子学特征，该患者在因2019冠状病毒病（COVID-19）住院期间被发现全血细胞减少，并讨论了COVID-19患者中MDS的诊断挑战。
一名30岁男性因发热、寒战、乏力、咳嗽、头晕和呼吸急促到外院就诊，被诊断为COVID-19所致双侧肺炎。在外院时，发现他全血细胞减少，随后的骨髓穿刺和活检引起了对COVID-19诱导的噬血细胞性淋巴组织细胞增生症的关注。此外，不能排除MDS。因此，该患者被转诊至我院进一步治疗。患者外周血显示全血细胞减少，偶见发育异常的中性粒细胞和少量泪滴状细胞。鉴于诊断存在不确定性，再次进行骨髓穿刺和活检，结果显示骨髓细胞增多，红系增生、巨核细胞增生、三系发育异常、原始细胞增多（13%）、许多环形铁粒幼细胞，以及轻度至中度骨髓纤维化，符合MDS-EB-2。染色体分析显示14号等臂染色体。二代测序显示SF3B1 K700E突变。
MDS的诊断可能具有挑战性，尤其是在年轻患者中。COVID-19患者中已报告有血细胞减少和骨髓发育异常特征，这使得MDS的诊断更加难以捉摸。通过对骨髓进行仔细的病理检查，并结合包括流式细胞术、免疫组织化学、细胞遗传学和分子学研究在内的辅助检查，以及全面的临床评估，可得出准确诊断。
