RGD Reference Report - [Characteristics of cytogenetics and molecular biology in patients with eosinophilia]. - Rat Genome Database

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[Characteristics of cytogenetics and molecular biology in patients with eosinophilia].

Authors: Qu, Shi-Qiang  Ai, Xiao-Fei  Li, Cheng-Wen  Li, Qing-Hua  Xu, Ze-Feng  Qin, Tie-Jun  Zhang, Yue  Xiao, Zhi-Jian 
Citation: Qu SQ, etal., Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2012 Oct;20(5):1216-20.
RGD ID: 11075088
Pubmed: PMID:23114151   (View Abstract at PubMed)

The aim of study is to explore the characteristics of cytogenetics and molecular biology in patients with eosinophilia. Bone marrow samples from 79 cases of eosinophilia (AEoC >= 1.5×10(9)/L) were detected for PDGFRA/B and FGFR1 gene rearrangement by fluorescence in situ hybridization and reverse transcription polymerase chain reaction (RT-PCR). Forty-four samples were detected for T cell receptor (TCR) clonal rearrangement by PCR. The results showed that among 76 cases the FIP1L1/PDGFRA (F/P) fusion gene was detected in 19 cases, the CHIC2 deletion was detected in 19 cases, the PDGFRA rearrangement was detected in 4 cases, and no FIP1L1 rearrangement was detected. According to the 2008 WHO classification, diagnosis were revised as myeloid neoplasms with PDGFRA/B rearrangement in 20 (42%) of 48 patients and 5 (83%) of 6 patients with hypereosinophilia syndrome (HES) or chronic eosinophilic leukemia (CEL), respectively. The diagnosis in (17%) of 6 patients with CEL was revised as chronic eosinophilic leukemia, not otherwise as specified (CEL-NOS). Clonal cytogenetic abnormalities were detected in 1 case of CEL-NOS and 3 cases with PDGFRB rearrangement. Karyotypic abnormalities involved in chromosome 4q12 were not detected in all of the 21 cases with PDGFRA rearrangement. The clonal TCR gene rearrangement were detected in 33% (5/15), 40% (6/15), and 36% (5/14) cases with PDGFRA/B rearrangement, HES, or secondary eosinophilia, respectively. There was no statistical difference in incidence rate among 3 subgroups. It is concluded that PDGFRA/B rearrangement can be detected in many cases of HES or CEL. Interphase FISH and PCR testing can enhance the diagnostic rate of myeloid neoplasms with PDGFRA/B rearrangement.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
FIP1L1HumanEosinophilia  IAGP DNA:gene fusionRGD 
Fip1l1RatEosinophilia  ISOFIP1L1 (Homo sapiens)DNA:gene fusionRGD 
Fip1l1MouseEosinophilia  ISOFIP1L1 (Homo sapiens)DNA:gene fusionRGD 
PDGFRAHumanEosinophilia  IAGP DNA:gene fusionRGD 
PdgfraRatEosinophilia  ISOPDGFRA (Homo sapiens)DNA:gene fusionRGD 
PdgfraMouseEosinophilia  ISOPDGFRA (Homo sapiens)DNA:gene fusionRGD 

Objects Annotated

Genes (Rattus norvegicus)
Fip1l1  (factor interacting with PAPOLA and CPSF1)
Pdgfra  (platelet derived growth factor receptor alpha)

Genes (Mus musculus)
Fip1l1  (factor interacting with PAPOLA and CPSF1)
Pdgfra  (platelet derived growth factor receptor, alpha polypeptide)

Genes (Homo sapiens)
FIP1L1  (factor interacting with PAPOLA and CPSF1)
PDGFRA  (platelet derived growth factor receptor alpha)


Additional Information