疑似胆道浸润的FUS::ERG融合基因阳性急性髓系白血病一例并文献复习

A Case of FUS::ERG Fusion Gene-Positive Acute Myeloid Leukemia with Suspected Biliary Tract Infiltration and Literature Review

摘要: 探讨伴t(16;21)(p11;q22)/FUS::ERG融合基因急性髓系白血病(AML)的临床特征、治疗挑战及预后。方法：报道1例58岁FUS::ERG阳性AML患者的诊疗经过，并结合文献进行复习。结果：患者初诊呈高白细胞血症(WBC 142.2 × 10⁹/L)，免疫表型特征性表达CD56、CD123，伴+10、del(5q)及WT1突变。经维奈克拉 + 地西他滨 + 高三尖杉酯碱(VHD)方案诱导达完全缓解(CR)，缓解持续约7个月后出现分子学复发(FUS::ERG 13.63%)及胆道梗阻性黄疸，疑似胆系髓外浸润(EMD)。后续对多种强化挽救治疗方案均耐药。结论：FUS::ERG AML是一种罕见高危亚型，维奈克拉为基础方案可诱导缓解，但极易发生获得性耐药及EMD。首次缓解后应尽早行异基因造血干细胞移植，其胆道EMD表现及耐药机制需引起高度重视。

Abstract: Objective: To explore the clinical features, therapeutic challenges, and prognosis of acute myeloid leukemia (AML) with t(16;21)(p11;q22)/FUS::ERG fusion gene. Methods: The diagnosis and treatment course of a 58-year-old patient with FUS::ERG-positive AML were reported and reviewed with literature. Results: The patient presented with hyperleukocytosis (WBC 142.2 × 10⁹/L) at initial diagnosis, with characteristic immunophenotypic expression of CD56 and CD123, accompanied by +10, del(5q), and WT1 mutation. Complete remission (CR) was achieved after induction therapy with Venetoclax, Decitabine, and Homoharringtonine (VHD). Molecular relapse (FUS::ERG 13.63%) and obstructive jaundice suggestive of biliary extramedullary disease (EMD) occurred approximately 7 months after remission. Subsequent intensive salvage therapies were ineffective. Conclusion: FUS::ERG AML is a rare high-risk subtype. Venetoclax-based regimens can induce remission but are prone to acquired resistance and EMD. Allogeneic hematopoietic stem cell transplantation should be performed as early as possible after first remission, and biliary EMD manifestations and resistance mechanisms warrant close attention.