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急性早幼粒细胞白血病伴髓肉瘤的 ZBTB16-RARα 变异型,表现为突发性截瘫。

A ZBTB16-RARα Variant of Acute Promyelocytic Leukemia with Concurrent Myeloid Sarcoma Presenting as Sudden Onset Paraplegia.

出版信息

Clin Lab. 2022 Sep 1;68(9). doi: 10.7754/Clin.Lab.2021.211227.

DOI:10.7754/Clin.Lab.2021.211227
PMID:36125151
Abstract

BACKGROUND

The co-occurrence of myeloid sarcoma (MS) and acute promyelocytic leukemia (APL) is a rare clinical event.

METHODS

A 56-year-old man presented with lower extremity paralysis that occurred 6 hours before admission. Magnetic resonance imaging revealed an epidural mass.

RESULTS

Histopathological examination demonstrated an extramedullary myeloid malignancy. Bone marrow examination showed abnormal promyelocytes and dysplasia, and an immunophenotyping study indicated very strong myeloperoxidase activity, suggesting APL.

CONCLUSIONS

The final diagnosis given was spinal MS with a ZBTB16-RARα variant of APL. The possibility that patients with rapidly progressive neurologic symptoms could have MS and concurrent APL should be considered.

摘要

背景

骨髓肉瘤(MS)和急性早幼粒细胞白血病(APL)同时发生是一种罕见的临床事件。

方法

一名 56 岁男性因入院前 6 小时出现下肢瘫痪而就诊。磁共振成像显示硬脊膜外肿块。

结果

组织病理学检查显示髓外髓性恶性肿瘤。骨髓检查显示异常早幼粒细胞和发育不良,免疫表型研究表明过氧化物酶活性很强,提示 APL。

结论

最终诊断为脊髓 MS,伴有 APL 的 ZBTB16-RARα 变异。对于快速进展的神经系统症状患者,应考虑同时患有 MS 和 APL 的可能性。

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Spinal myeloid sarcoma presenting as initial symptom in acute promyelocytic leukemia with a rare cryptic fusion gene: a case report and literature review.以罕见隐匿性融合基因为首发症状的急性早幼粒细胞白血病合并脊髓髓肉瘤:一例报告及文献复习
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