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MDS 迅速进展为 AML,伴胃黏膜下肿瘤作为髓外浸润。

Rapid progression from MDS to AML with gastric submucosal tumour as an extramedullary infiltration.

机构信息

Department of Internal Medicine, General Incorporated Foundation Kurashiki Medical Center, Kurashiki, Okayama, Japan

Department of Internal Medicine, General Incorporated Foundation Kurashiki Medical Center, Kurashiki, Okayama, Japan.

出版信息

BMJ Case Rep. 2024 Apr 1;17(4):e258856. doi: 10.1136/bcr-2023-258856.

Abstract

We present a rare case of myeloid sarcoma in the stomach of an elderly woman initially diagnosed with anaemia. Myeloid sarcoma, an unusual extramedullary manifestation of acute myeloid leukaemia (AML), primarily affects lymph nodes, bones, spine and skin, with gastrointestinal involvement being infrequent. Despite normal results from the initial endoscopy, a follow-up examination after 4 months revealed multiple submucosal gastric tumours. These developments coincided with worsening of anaemia and an increase in peripheral myeloblasts. Pathological evaluation and immunohistochemical staining confirmed gastric extramedullary infiltration associated with AML. This case highlights the importance of comprehensive diagnostic processes when suspecting leukaemic transformations, especially in myelodysplastic syndrome (MDS). Due to financial constraints, additional critical studies such as cytogenetics and next-generation sequencing were not performed. Nonetheless, this rare case demonstrates the visual observation of rapid progression from MDS to AML and concurrent early myeloid sarcoma development in an elderly patient.

摘要

我们报告了一例罕见的胃髓外肉瘤病例,该患者最初被诊断为贫血的老年女性。髓外肉瘤是急性髓系白血病(AML)的一种不常见的骨髓外表现,主要影响淋巴结、骨骼、脊柱和皮肤,胃肠道受累罕见。尽管最初的内窥镜检查结果正常,但 4 个月后的随访检查显示多个黏膜下胃肿瘤。这些进展与贫血恶化和外周髓母细胞增加同时发生。病理评估和免疫组织化学染色证实了与 AML 相关的胃髓外浸润。该病例强调了在怀疑白血病转化时进行全面诊断过程的重要性,特别是在骨髓增生异常综合征(MDS)中。由于经济限制,未进行细胞遗传学和下一代测序等其他关键研究。然而,这个罕见的病例表明,在老年患者中可以观察到 MDS 向 AML 的快速进展以及同时发生的早期髓外肉瘤发展。

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Isolated myeloid sarcoma of the gastrointestinal tract.孤立性胃肠道髓系肉瘤
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