FLT3-ITD和NPM1双突变急性髓系白血病一例以弥漫性皮肤粒细胞肉瘤为表现

R. Çiftçiler, A. E. Ciftciler, S. Kozacıoglu
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摘要

目的:急性髓性白血病(AML)的特点是白血病母细胞不局限于骨髓或外周血,可表现为粒细胞肉瘤,血液或骨髓外的白血病细胞称为髓外受累(EMI)。皮肤、骨骼和淋巴结是髓外疾病最常见的部位。粒细胞肉瘤(GS)在结节、脓疱或斑块样病变的鉴别诊断中应予以考虑,特别是在疑似血液学疾病的患者中。目前还没有针对emi的治疗方案;适合强化治疗的患者通常采用含蒽环类药物和阿糖胞苷的治疗方案。成人AML中最常见的遗传畸变是NPM基因(NPM1)外显子12的体细胞突变,影响多达60%的正常核型AML患者和约35%的所有病例。NPM1突变的患者发生fms样酪氨酸激酶内跨膜复制(FLT3-ITD)突变的可能性是没有NPM1突变的患者的两倍。AML经常携带FLT3突变,导致(FLT3- itd)或激酶结构域激活环(FLT3- tkd)的改变。短期缓解和不良预后与白血病细胞表面FLT3-ITD分子的高突变比例有关。病例:在本研究中,我们报告了一位被诊断为FLT3-ITD和NPM1双突变AML (FAB分类M0, M1)的患者,并以弥漫性粒细胞肉瘤入院。
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FLT3-ITD and NPM1 Double Mutation Acute Myeloid Leukemia Case Presenting with Diffuse Skin Granulocytic Sarcoma
Objective: Acute myeloid leukemia (AML) is characterized by leukemic blasts that are not limited to the bone marrow or peripheral blood, may be presented with granulocytic sarcoma, and leukemic cells outside of the blood or bone marrow are called extramedullary involvement (EMI). Skin, bone, and lymph nodes are the most prevalent locations of extramedullary illness. Granulocytic sarcoma (GS) should be considered in the differential diagnosis of nodules, pustules, or plaque-like lesions, especially in patients with suspected hematological disease. No EMI-specific treatment regimens have been established; patients who are suitable for intensive therapy are typically treated with anthracycline and cytarabine-containing regimens. The most common genetic aberration in adult AML is somatic mutations in exon 12 of the NPM gene (NPM1), which affect up to 60% of individuals with normal karyotype AML and around 35% of all cases. Patients with NPM1 mutations are twice as likely to also have a FMS-like tyrosine kinase internal transmembrane duplications (FLT3-ITD) mutation as patients without NPM1 mutations. AML frequently harbors FLT3 mutations that result in (FLT3-ITD) or alterations to the kinase domain's activating loop (FLT3-TKD). Short remissions and unfavorable outcomes are linked to leukemia cells that have a high mutation proportion of FLT3-ITD molecules on their surface.  Case: Here in this study, we report a patient diagnosed with FLT3-ITD and NPM1 double mutation AML (FAB classification M0, M1), admitted with diffuse granulocytic sarcoma.
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