Department of Hematology, Affiliated Hospital of Zunyi Medical University, Zunyi 563000, Guizhou Province, China.
School of Nursing, Medicine & Technology, College of Zunyi Medical University, Zunyi 563003, Guizhou Province, China.
Medicine (Baltimore). 2022 May 27;101(21):e29475. doi: 10.1097/MD.0000000000029475.
Isolated myeloid sarcoma (MS) is characterized by the rapid proliferation of myeloblasts of acute myeloid leukemia (AML), without any blood or bone marrow involvement. This disease can manifest with extramedullary organ involvement, such as the skin, lymph nodes, bone, brain, breast cervix, and visceral organs, while the occurrence of myeloid sarcomas in the stomach is rare. Isolated MS has been associated with acute myeloid leukemia (AML), but the rapid progression of MS to acute myeloid leukemia with a complex karyotype and TLS-ERG fusion gene is even rarer.
A 33-year-old woman suffered from persistent epigastric pain accompanied by two months of anorexia and nausea, as well as 1-week of melena.
This patient was initially diagnosed with gastric MS that eventually transformed into AML with a complex karyotype and TLS-ERG fusion gene, 4 months later.
Only palliative care, including nutrition support, antacids, blood transfusion, anti-infection methods were used on this patient to determine the cachexia status and the family's requirement.
Routine follow-up results demonstrated this patient had died due to cerebral hemorrhage five months after the diagnosis of MS.
Comprehensive integration of patient history, imaging features, mass and bone marrow biopsy, and molecular cytogenetic may provide insights that could help us avoid the misdiagnosis of gastric MS. Isolated gastric MS can rapidly progress to AML with a poor prognosis if the patient does not receive appropriate treatment.
孤立性髓外肉瘤(MS)的特征是急性髓系白血病(AML)的原始细胞迅速增殖,而没有任何血液或骨髓受累。这种疾病可表现为髓外器官受累,如皮肤、淋巴结、骨骼、脑、乳房、宫颈和内脏器官,而胃发生髓外肉瘤则较为罕见。孤立性 MS 与急性髓系白血病(AML)相关,但 MS 迅速进展为具有复杂核型和 TLS-ERG 融合基因的急性髓系白血病则更为罕见。
一名 33 岁女性因持续性上腹痛伴两个月厌食和恶心,以及一周黑便而就诊。
该患者最初被诊断为胃 MS,最终在 4 个月后转化为具有复杂核型和 TLS-ERG 融合基因的 AML。
仅对该患者进行姑息治疗,包括营养支持、抗酸剂、输血、抗感染方法,以确定恶病质状态和家庭需求。
常规随访结果显示,该患者在诊断为 MS 后五个月因脑出血死亡。
综合整合患者病史、影像学特征、肿块和骨髓活检以及分子细胞遗传学信息,可能有助于避免胃 MS 的误诊。如果患者未接受适当治疗,孤立性胃 MS 可能迅速进展为预后不良的 AML。