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以维生素B₁₂缺乏为表现的伴骨髓发育异常相关改变的急性髓系白血病:一则警示故事

Acute Myeloid Leukemia with Myelodysplasia-Related Changes Presenting as Vitamin B12 Deficiency: A Cautionary Tale.

作者信息

Gereg Catherine, Conant Joanna L, Jasra Sakshi, Devitt Katherine A, Gardner Juli-Anne

机构信息

Larner College of Medicine, University of Vermont, Burlington, VT.

Department of Pathology and Laboratory Medicine, University of Vermont Medical Center, Burlington, VT.

出版信息

J Assoc Genet Technol. 2021;47(4):218-223.

Abstract

Acute myeloid leukemia may present with significant dysmyelopoiesis within the peripheral blood smear and bone marrow aspirate. In the setting of Vitamin B12 deficiency, proliferation of a clonal population of malignant cells can become impaired, masking an underlying myelodysplastic or leukemic process. Typically, the cautionary tale warns against diagnosing acute myeloid leukemia before ruling out Vitamin B12 deficiency. Here we describe a patient who initially presented with pancytopenia and Vitamin B12 deficiency who, upon supplementation, developed overt acute myeloid leukemia. This case will highlight the importance of cytogenetic and molecular studies as essential diagnostic tools in patients with unique presentations.

摘要

急性髓系白血病在外周血涂片和骨髓穿刺涂片中可能表现出明显的髓系造血异常。在维生素B12缺乏的情况下,恶性细胞克隆群体的增殖可能受损,掩盖潜在的骨髓增生异常或白血病过程。通常,警示故事告诫人们在排除维生素B12缺乏之前不要诊断急性髓系白血病。在此,我们描述一名最初表现为全血细胞减少和维生素B12缺乏的患者,补充维生素B12后发展为明显的急性髓系白血病。该病例将突出细胞遗传学和分子研究作为具有独特表现患者的重要诊断工具的重要性。

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