Clinical significance of PDGFRβ gene testing in hematological tumors.
10.3760/cma.j.cn511374-20220113-00033
- VernacularTitle:PDGFRβ基因检测在血液肿瘤中的临床应用
- Author:
Mengqiao GUO
1
;
Fangyu GUO
;
Yan ZHANG
;
Hui CHENG
;
Gusheng TANG
;
Zhengxia HUANG
;
Shenglan GONG
Author Information
1. Department of Clinical Laboratory, Shanghai Fourth Hospital Affiliated to Tongji University School of Medicine, Shanghai 200434, China. angle_gsl@sina.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Clinical Relevance;
Hematologic Neoplasms/genetics*;
In Situ Hybridization, Fluorescence;
Multiple Myeloma;
Myelodysplastic Syndromes;
Retrospective Studies;
Translocation, Genetic
- From:
Chinese Journal of Medical Genetics
2023;40(11):1334-1339
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and laboratory characteristics of hematological tumors with different types of abnormalities in platelet derived growth factor β (PDGFRβ) gene.
METHODS: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.
RESULTS: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).
CONCLUSION: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.
