PMID- 37906137
OWN - NLM
STAT- MEDLINE
DCOM- 20231101
LR  - 20231101
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 11
DP  - 2023 Nov 10
TI  - [Clinical significance of PDGFRbeta gene testing in hematological tumors].
PG  - 1334-1339
LID - 10.3760/cma.j.cn511374-20220113-00033 [doi]
AB  - OBJECTIVE: To explore the clinical and laboratory characteristics of 
      hematological tumors with different types of abnormalities in platelet derived 
      growth factor beta (PDGFRbeta) 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 
      PDGFRbeta 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 PDGFRbeta gene abnormalities with the PDGFRbeta probe, 
      which yielded a detection rate of 69.50% (98/141). Among these, 38 cases (38.78%) 
      had PDGFRbeta 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 PDGFRbeta deletion group was 
      mainly associated with myeloid tumors, such as acute myeloid leukemia (AML) and 
      myelodysplastic syndrome (MDS) (P < 0.001). The PDGFRbeta amplification group was 
      more common in lymphoid tumors, such as multiple myeloma (MM) (P < 0.001). The 
      PDGFRbeta translocation group was also more common in 
      myelodysplastic/myeloproliferative tumors (MDS/MPN). CONCLUSION: Tumors with 
      PDGFRbeta 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.
FAU - Guo, Mengqiao
AU  - Guo M
AD  - Department of Clinical Laboratory, Shanghai Fourth Hospital Affiliated to Tongji 
      University School of Medicine, Shanghai 200434, China. angle_gsl@sina.com.
FAU - Guo, Fangyu
AU  - Guo F
FAU - Zhang, Yan
AU  - Zhang Y
FAU - Cheng, Hui
AU  - Cheng H
FAU - Tang, Gusheng
AU  - Tang G
FAU - Huang, Zhengxia
AU  - Huang Z
FAU - Gong, Shenglan
AU  - Gong S
LA  - chi
PT  - English Abstract
PT  - Journal Article
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - EC 2.7.10.1 (PDGFRB protein, human)
SB  - IM
MH  - Humans
MH  - Clinical Relevance
MH  - *Hematologic Neoplasms/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - *Multiple Myeloma
MH  - *Myelodysplastic Syndromes
MH  - Retrospective Studies
MH  - Translocation, Genetic
EDAT- 2023/10/31 12:41
MHDA- 2023/11/01 12:43
CRDT- 2023/10/31 11:12
PHST- 2023/11/01 12:43 [medline]
PHST- 2023/10/31 12:41 [pubmed]
PHST- 2023/10/31 11:12 [entrez]
AID - 940640227 [pii]
AID - 10.3760/cma.j.cn511374-20220113-00033 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1334-1339. doi: 
      10.3760/cma.j.cn511374-20220113-00033.