骨髓增生异常/骨髓增殖性肿瘤1例诊治分析
| 作者: |
1成志勇,
2耿军辉,
2李亚,
3马莉香,
4赵楠,
4张亚辉,
4齐巍,
1田赫
1 保定市第一医院血液内科，河北 保定 071000 2 定州市人民医院内科，河北 定州 073000 3 保定市第三中心医院内科，河北 保定 071000 4 高阳县医院内科，河北 高阳 071500 |
| 通讯: |
成志勇
Email: dzczy@sohu.com |
| DOI: | 10.3978/j.issn.2095-6959.2017.07.039 |
摘要
了解骨髓增生异常/骨髓增殖性肿瘤(myelodysplastic/myeloproliferative neoplasms，MDS/MPN)的临床类型、病理特征、基因突变，对其预后进行评估。收集1例MDS/MPN病例及相关参考文献，观察其临床表现、临床病理学特征、基因突变及最终临床分型，判断治疗疗效，并进行预后评价。MDS/MPN同时具有MDS和MPN的临床及主要血液学特点，目前分为慢性粒单细胞白血病、不典型慢性粒细胞白血病，BCR-ABL1阴性(atypical chronic myeloid leukemia，aCML)、幼年型粒单细胞白血病(juvenile myelomonocytic leukemia，JMML)、伴环形铁粒幼细胞和血小板增多的骨髓增生异常/骨髓增殖性肿瘤(MDS/MPN with ring sideroblasts and thrombocytosis，MDS/MPN-RS-T)、MDS/MPN，无法分类(MDS/MPN–unclassifiable，MDS/MPN-U)等5种类型。各型有其不同诊断标准，而上述不同疾病之间出现转化，国内未见报道。保定市第一医院诊治1例最初诊断不明确的慢性髓系恶性肿瘤，随着疾病的演变而最终确诊为慢性粒单细胞白血病。通过本病例表明，在不同类型MDS/MPN之间可能会存在类型转换。
关键词：
骨髓增生异常/骨髓增殖性肿瘤
不典型慢性粒细胞白血病
慢性粒单细胞白血病
Diagnosis and treatment for 1 case of myelodysplastic/myeloproliferative neoplasm
CorrespondingAuthor: CHENG Zhiyong Email: dzczy@sohu.com
DOI: 10.3978/j.issn.2095-6959.2017.07.039
Abstract
To learn the clinical classifications, pathological features, gene mutation and prognosis of patient with myelodysplastic/myeloproliferative neoplasms (MDS/MPN). One case of MDS/MPN patient was collected and the clinical manifestations, clinical pathological features, gene mutation and clinical classification were observed. The therapeutic efficacy judgment and further prognostic were also evaluated. MDS/MPN has both clinical and hematological features of MDS and MPN, MDS/MPN includes 5 types, such as chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML), juvenile myelomonocytic leukemia (JMML), MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), and MDS/MPN-unclassifiable (MDS/MPN-U). Each type has its different diagnostic criteria. There was no report about the conversion between the above diseases in China. In Baoding No. 1 Hospital, a patient was initially diagnosed chronic myeloid malignancies with unclear clinical classification and finally diagnosed with CMML. This indicates that there may be a type conversion between different types of MDS/MPN.