急性髓性白血病伴骨髓发育不良特征
Acute myeloid leukaemia with myelodysplasia-related features
定义 英文原文（暂无中文）
A rare acute myeloid leukemia (AML) characterized by the presence of acute leukemia with at least 20% peripheral blood or bone marrow blasts with morphological features of myelodysplasia, or occurrence in patients with a prior history of a myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasm, with MDS-related cytogenetic abnormalities, in the absence of specific genetic abnormalities characteristic of AML with recurrent genetic abnormalities. Prior cytotoxic or radiation therapy for an unrelated disease must be excluded. The condition occurs mainly in elderly patients and is rare in children. Patients often present with severe pancytopenia. Prognosis is generally poor.
别名
急性髓系白血病伴多系发育不良
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 成年期
- 患病率
- <1 / 1 000 000（Europe）
相关基因 5
| 基因 | 名称 | 关联类型 |
|---|---|---|
| IDH2 | isocitrate dehydrogenase (NADP(+)) 2 | Disease-causing somatic mutation(s) in |
| TET2 | tet methylcytosine dioxygenase 2 | Disease-causing somatic mutation(s) in |
| ASXL1 | ASXL transcriptional regulator 1 | Disease-causing somatic mutation(s) in |
| IDH1 | isocitrate dehydrogenase (NADP(+)) 1 | Disease-causing somatic mutation(s) in |
| DNMT3A | DNA methyltransferase 3 alpha | Disease-causing somatic mutation(s) in |
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）