目的 探讨不同类型血小板源性生长因子β（PDGFRβ）基因异常的血液肿瘤的临床和实验室特征。对141例5号染色体（5q）长臂异常患者进行回顾性分析并综合病史资料。收集2009年至2020年海军军医大学附属长海医院的临床资料。采用R显带技术对患者骨髓进行染色体核型分析，并采用荧光原位杂交（FISH）技术检测PDGFRβ基因。根据FISH信号将检测结果分为扩增组、缺失组和易位组。对三组数据列交叉表进行统计分析，如果样本量n>=40且每个单元格的预期频率T>=5，则使用Pearson检验对三组数据进行比较。如果 N < 40 并且每个单元格的任何预期频率 T < 5，则使用 Fisher 精确检验。若三组数据比较结果存在差异，则进一步采用Bonferroni法进行数据比较。PDGFRβ探针共检测出98例患者存在PDGFRβ基因异常，检出率为69.50 %（98/141）。其中，PDGFRβ基因扩增38例（38.78%），缺失57例（58.16%），易位3例（3.06%）。 98例中，93例存在复杂核型，其中扩增组37例（97.37%，37/38），缺失组55例（96.49%，55/57），易位1例组（33.33%，1/3）。三组临床数据分析显示，各组间无明显性别优势（P > 0.05）。 PDGFRβ缺失组主要与髓系肿瘤相关，如急性髓系白血病（AML）和骨髓增生异常综合征（MDS）（P < 0.001）。 PDGFRβ扩增组在淋巴肿瘤中更常见，例如多发性骨髓瘤（MM）（P < 0.001）。 PDGFRβ易位组也多见于骨髓增生异常/骨髓增生性肿瘤（MDS/MPN）。PDGFRβ基因重排的肿瘤可能表现出骨髓增生性肿瘤（MPN）的过度增殖和MDS的病理性造血改变，并具有典型的临床和血液学特征。作为一种相对罕见的血液肿瘤类型，除了之前描述的MPN或MDS/MPN等髓系肿瘤外，还可能涵盖多发性骨髓瘤、非霍奇金淋巴瘤等淋巴/浆细胞肿瘤。

To explore the clinical and laboratory characteristics of hematological tumors with different types of abnormalities in platelet derived growth factor β (PDGFRβ) gene.A retrospective analysis was carried out on 141 patients with abnormal long arm of chromosome 5 (5q) and comprehensive medical history data from Changhai Hospital Affiliated to Naval Medical University from 2009 to 2020, and their clinical data were collected. R-banding technique was used for chromosomal karyotyping analysis for the patient's bone marrow, and fluorescence in situ hybridization (FISH) was used to detect the PDGFRβ gene. The results of detection were divided into the amplification group, deletion group, and translocation group based on FISH signals. The three sets of data column crosstabs were statistically analyzed, and if the sample size was n >= 40 and the expected frequency T for each cell was >= 5, a Pearson test was used to compare the three groups of data. If N < 40 and any of the expected frequency T for each cell was < 5, a Fisher's exact test is used. Should there be a difference in the comparison results between the three sets of data, a Bonferroni method was further used to compare the data.In total 98 patients were detected to have PDGFRβ gene abnormalities with the PDGFRβ probe, which yielded a detection rate of 69.50% (98/141). Among these, 38 cases (38.78%) had PDGFRβ gene amplifications, 57 cases (58.16%) had deletions, and 3 (3.06%) had translocations. Among the 98 cases, 93 were found to have complex karyotypes, including 37 cases from the amplification group (97.37%, 37/38), 55 cases from the deletion group (96.49%, 55/57), and 1 case from the translocation group (33.33%, 1/3). Analysis of three sets of clinical data showed no significant gender preponderance in the groups (P > 0.05). The PDGFRβ deletion group was mainly associated with myeloid tumors, such as acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) (P < 0.001). The PDGFRβ amplification group was more common in lymphoid tumors, such as multiple myeloma (MM) (P < 0.001). The PDGFRβ translocation group was also more common in myelodysplastic/myeloproliferative tumors (MDS/MPN).Tumors with PDGFRβ gene rearrangement may exhibit excessive proliferation of myeloproliferative tumors (MPN) and pathological hematopoietic changes in the MDS, and have typical clinical and hematological characteristics. As a relatively rare type of hematological tumor, in addition to previously described myeloid tumors such as MPN or MDS/MPN, it may also cover lymphoid/plasma cell tumors such as multiple myeloma and non-Hodgkin's lymphoma.