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COPY NUMBER ALTERATIONS DETECTED BY A MULTIPLEX PCR GENOTYPING METHOD AND FISH IN CHRONIC LYMPHOCYTIC LEUKEMIA
Author(s): ,
Lei Fan
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
,
Shuchao Qin
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
,
Yi Miao
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
,
Xinyi Du
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
,
Hui Yang
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
,
Hairong Qiu
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
,
Li Wang
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
,
Wei Xu
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
Jianyong Li
Affiliations:
Department of Hematology,the First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital,Nanjing,China
(Abstract release date: 05/17/18) EHA Library. Fan L. 06/14/18; 215971; PB1880
Lei Fan
Lei Fan
Contributions
Abstract

Abstract: PB1880

Type: Publication Only

Background
Copy number alteration (CNA) is related with the occurrence and progression of chronic lymphocytic leukemia (CLL) patients. The acquisition of these genomic aberrations is mostly by fluorescence in situ hybridization(FISH).

Aims
The purpose of this study was to introduce the AccuCopy method in detecting the CNA in CLL and to compare the usefulness with FISH.

Methods
 One hundred chemotherapy-naïve CLL patients were enrolled in this study. Both FISH and AccuCopy were applied on all of them.

Results
AccuCopy was able to identify all del(17p) patients confirmed by FISH and patients with high frequencies of del(11q) (by FISH and patients with high frequencies of del(11q) (40%), respectively). Furthermore, CNA identified 1 sample with a low number of del(17p) cells below the positive cut-off value by FISH, which was accompanied by TP53 mutation.

Conclusion
Our results suggest that AccuCopy is equally efficient in assessing del(17p) and high frequencies of del(11q) compared to FISH. Besides, we detected 2 deletions and 3 insertions of SETD2 in the patient cohort. Patients carrying SETD2 aberrations showed a higher level of thymidine kinase 1(p<0.001), C-reactive protein(p<0.001) and Erythrocyte Sedimentation Rate(p=0.005). The SETD2 aberrations also correlates with more complexkaryotype(20.0% vs. 1.8%)(p=0.012), more MYD88 mutation(33.3% vs. 2.9%)(p=0.008) and a higher ZAP70 percentage(p=0.011). More CNAs need to be validated using this method.

Session topic: 6. Chronic lymphocytic leukemia and related disorders - Clinical

Keyword(s): Chronic Lymphocytic Leukemia, FISH

Abstract: PB1880

Type: Publication Only

Background
Copy number alteration (CNA) is related with the occurrence and progression of chronic lymphocytic leukemia (CLL) patients. The acquisition of these genomic aberrations is mostly by fluorescence in situ hybridization(FISH).

Aims
The purpose of this study was to introduce the AccuCopy method in detecting the CNA in CLL and to compare the usefulness with FISH.

Methods
 One hundred chemotherapy-naïve CLL patients were enrolled in this study. Both FISH and AccuCopy were applied on all of them.

Results
AccuCopy was able to identify all del(17p) patients confirmed by FISH and patients with high frequencies of del(11q) (by FISH and patients with high frequencies of del(11q) (40%), respectively). Furthermore, CNA identified 1 sample with a low number of del(17p) cells below the positive cut-off value by FISH, which was accompanied by TP53 mutation.

Conclusion
Our results suggest that AccuCopy is equally efficient in assessing del(17p) and high frequencies of del(11q) compared to FISH. Besides, we detected 2 deletions and 3 insertions of SETD2 in the patient cohort. Patients carrying SETD2 aberrations showed a higher level of thymidine kinase 1(p<0.001), C-reactive protein(p<0.001) and Erythrocyte Sedimentation Rate(p=0.005). The SETD2 aberrations also correlates with more complexkaryotype(20.0% vs. 1.8%)(p=0.012), more MYD88 mutation(33.3% vs. 2.9%)(p=0.008) and a higher ZAP70 percentage(p=0.011). More CNAs need to be validated using this method.

Session topic: 6. Chronic lymphocytic leukemia and related disorders - Clinical

Keyword(s): Chronic Lymphocytic Leukemia, FISH

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