骨髓增生异常综合征

定义

骨髓增生异常综合征 is a group of disorders when the blood cells produced in the bone marrow do not mature into healthy cells. This leaves you with fewer healthy blood cells in your body. The blood cells that have matured may not function properly.

骨髓增生异常综合征 (MDS) is a form of 癌症. In about a third of people, MDS may develop into 急性髓性白血病.

选择的名字

Myeloid malignancy; 骨髓增生异常综合征; MDS; Preleukemia; Smoldering leukemia; Refractory anemia; Refractory cytopenia

原因

Stem cells in bone marrow form different types of blood cells. With MDS, the DNA in stem cells becomes damaged. Because the DNA is damaged, the stem cells can’t produce healthy blood cells.

MDS的确切病因尚不清楚. For most cases, there is no known cause.

MDS的危险因素包括:

• 某些遗传性疾病
• Exposure to environmental or industrial chemicals, 化肥, 农药, 溶剂, 或者重金属
• 吸烟

Prior 癌症 treatment increases the risk for MDS. This is called secondary or treatment-related MDS.

• Certain 化疗 drugs increase the chance of developing MDS. 这是一个主要的风险因素.
• Radiation therapy, when used with 化疗, increases the risk for MDS even more.
• People who have stem cell transplants may develop MDS because they also receive high doses of 化疗.

MDS usually occurs in adults age of 60 years 和 older. 这在男性中更为常见.

症状

早期MDS通常没有症状. MDS is often discovered during other blood tests.

People with very low blood counts often experience symptoms. 症状 depend on the type of blood cell affected, 和 they include:

• 贫血引起的虚弱或疲倦
• 呼吸急促（气促）
• 容易擦伤和出血
• Small red or purple pinpoint dots under the skin caused by bleeding
• 频繁感染和发烧

考试和测试

People with MDS have a shortage of blood cells. MDS may reduce the number of one or more of these:

• 红细胞
• 白细胞
• 血小板

The shapes of these cells may also be changed. Your health care provider will perform a 全血计数 和 血涂片 to find which type of blood cells have been affected.

可执行的其他测试有:

• 骨髓穿刺和活检.
• 细胞化学, 流式细胞术, 免疫细胞化学, 和 immunophenotyping tests are used to identify 和 classify specific types of MDS.
• Cytogenetics 和 fluorescent in situ hybridization (FISH) are used for genetic analysis. Cytogenetic testing can detect translocations 和 other genetic abnormalities. FISH is used to identify specific changes within chromosomes. Genetic variations may help determine response to treatment.

Some of these tests will help your provider determine what type of MDS you have. This will help your provider plan your treatment.

Your provider may define your MDS as high-risk, intermediate-risk, or low-risk on the basis of:

• The severity of shortage of blood cells in your body
• 你DNA的变化类型
• The number of immature white blood cells in your bone marrow

Since there is a risk of MDS developing into AML, regular follow-up with your provider may be required.

治疗

Your treatment will depend on several factors:

• 无论你是低风险还是高风险
• 您拥有的MDS类型
• Your age, health, 和 other conditions you may have, such as diabetes or heart disease

The goal of MDS treatment is to prevent problems due to a shortage of blood cells, 感染和出血. 它可以包括:

• 输血
• Drugs that promote the production of blood cells
• 抑制免疫系统的药物
• 低剂量的 化疗 提高血细胞计数
• 干细胞移植

Your provider may try one or more treatments to see what your MDS responds to.

前景(预测)

The outlook will depend on your type of MDS 和 severity of symptoms. Your overall health also may affect your chances of recovery. Many people have stable MDS that does not progress into 癌症 for years, if ever.

Some people with MDS may develop 急性髓性白血病 (AML).

可能出现的并发症

MDS并发症包括:

• 出血
• Infections such as pneumonia, gastrointestinal infections, urinary infections
• 急性髓性白血病

何时联系医疗专业人员

如果您有以下情况，请联系您的供应商:

• 大部分时间都感到虚弱和疲倦
• Bruise or bleed easily, have bleeding of the gums or frequent nosebleeds
• You notice red or purple spots of bleeding under the skin

参考文献

国家癌症研究所网站. Myelodysplastic/myeloproliferative neoplasms treatment (PDQ) - health professional version. www.癌症.gov/types/myeloproliferative/hp/mds-mpd-treatment-pdq. 2022年1月26日更新. 于2022年5月9日生效.

Nguyen PL, Hasserjian RP. 骨髓增生异常综合症. 译:Hsi ED, ED. Hematopathology. 3日艾德. Philadelphia PA: Elsevier; 2018:chap 18.

Steensma DP, Stone RM. 骨髓增生异常综合症. 参见:Goldman L, Schafer AI主编. Goldman-Cecil医学. 26日艾德. Philadelphia, PA: Elsevier; 2020:chap 172.