Uemura Yoshiki, Togitani Kazuto, Kitaoka Mayuko, Yano Keitaro, Okada Mitsuo
Department of Hematology, Chikamori Hospital, Kochi, JPN.
Department of Gastroenterology, Chikamori Hospital, Kochi, JPN.
Cureus. 2024 Jul 16;16(7):e64650. doi: 10.7759/cureus.64650. eCollection 2024 Jul.
Megaloblastic anemia (MBA) is a reversible metabolic disorder that responds well to vitamin B12 supplementation. It contrasts with myelodysplastic syndrome (MDS), an irreversible neoplastic condition characterized by hematopoietic stem cell abnormalities. To date, no association has been identified between these two distinct etiologies, and they are considered independent diseases. However, despite their distinct classifications, both conditions present macrocytic anemia, similar bone marrow findings, and sometimes have common chromosomal abnormalities, which can lead to occasional misdiagnoses. Herein, we present a patient initially diagnosed with pernicious anemia (PA) who showed improvement with replacement therapy but subsequently became resistant to treatment and eventually developed MDS. Quantitative assessment of Wilm's tumor-1 (WT1) mRNA has emerged as a valuable tool for gauging MDS disease status and distinguishing it from related disorders, such as aplastic anemia. In our investigation of 30 patients with MBA, we explored WT1 mRNA expression. We observed its presence in 10 patients with PA, which suggests a potential link between PA and hematopoietic tumors.
巨幼细胞贫血（MBA）是一种可逆的代谢紊乱疾病，对维生素B12补充治疗反应良好。它与骨髓增生异常综合征（MDS）形成对比，MDS是一种不可逆的肿瘤性疾病，其特征为造血干细胞异常。迄今为止，尚未发现这两种不同病因之间存在关联，它们被视为独立的疾病。然而，尽管它们分类不同，但这两种疾病均表现为大细胞性贫血、相似的骨髓检查结果，且有时存在共同的染色体异常，这可能导致偶尔的误诊。在此，我们报告一名最初被诊断为恶性贫血（PA）的患者，该患者接受替代治疗后病情有所改善，但随后对治疗产生耐药性，最终发展为MDS。威尔姆斯瘤-1（WT1）mRNA的定量评估已成为评估MDS疾病状态并将其与再生障碍性贫血等相关疾病区分开来的有价值工具。在我们对30例MBA患者的研究中，我们探讨了WT1 mRNA的表达情况。我们在10例PA患者中观察到其存在，这表明PA与造血肿瘤之间可能存在联系。
