PNH CLONE SIZE BY FLOW CYTOMETRY AND ITS CORRELATION TO PIG GENE MUTATION
Author(s): ,
Dajeong Jeong
Affiliations:
Department of Laboratory Medicine,Seoul National University Hospital,Seoul,Korea, Republic Of
,
Hee Sue Park
Affiliations:
Department of Laboratory Medicine,Chungbuk National University Hospital,Cheongju,Korea, Republic Of
,
Seongmin Choi
Affiliations:
Division of Clinical Bioinformatics Biomedical Research Institute,Seoul National University Hospital,Seoul,Korea, Republic Of
,
Heewon Seo
Affiliations:
Division of Biomedical Informatics,Seoul National University College of Medicine,Seoul,Korea, Republic Of
,
Sung-Min Kim
Affiliations:
Cancer Research Institute,Seoul National University College of Medicine,Seoul,Korea, Republic Of
,
Kyongok Im
Affiliations:
Cancer Research Institute,Seoul National University College of Medicine,Seoul,Korea, Republic Of
,
Kyumin Lim
Affiliations:
Cancer Research Institute,Seoul National University College of Medicine,Seoul,Korea, Republic Of
,
Jiwon Yun
Affiliations:
Department of Laboratory Medicine,Seoul National University Hospital,Seoul,Korea, Republic Of
,
Jung-Ah Kim
Affiliations:
Department of Laboratory Medicine,Chung-Ang University Hospital,Seoul,Korea, Republic Of
,
Kwangsoo Kim
Affiliations:
Division of Clinical Bioinformatics Biomedical Research Institute,Seoul National University Hospital,Seoul,Korea, Republic Of
,
Ju Han Kim
Affiliations:
Division of Clinical Bioinformatics Biomedical Research Institute,Seoul National University Hospital,Seoul,Korea, Republic Of
Dong Soon Lee
Affiliations:
Department of Laboratory Medicine,Seoul National University Hospital,Seoul,Korea, Republic Of;Cancer Research Institute,Seoul National University College of Medicine,Seoul,Korea, Republic Of
EHA Library. Jeong D. Jun 15, 2019; 266736; PS1119
Dajeong Jeong
Dajeong Jeong
Contributions
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Abstract

Abstract: PS1119

Type: Poster Presentation

Presentation during EHA24: On Saturday, June 15, 2019 from 17:30 - 19:00

Location: Poster area

Background
Routine diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) is based on flow cytometric measurement of PNH clone in RBC and granulocyte. However there is no well-established consensus on the clinically significant size of PNH clone. 

Aims
So we investigated whether quantitative results of PNH clone size measured by flow cytometry (FCM) correlate with mutant burden of PIG gene.

Methods
A total of 89 specimens from 63 patients whose PNH clone size was ≥0.1% by FCM was enrolled. We performed ultra-deep sequencing for PIGAPIGM and PIGX genes on these 89 consecutive specimens. Also, we followed up 6 patients who were treated with Eculizumab and analyzed their laboratory changes including hemoglobin, lactate dehydrogenase level, PNH flow cytometry and PIG gene mutant burden. Treatment response was evaluated every 6 months.

Results
Sixteen out of 63 patients had >10% granulocyte PNH clone and they all had PIG gene mutation. Fifteen (93.8%) had PIGA mutation and one (6.3%) PIGM mutation. Patients with >15% RBC PNH clone (n=12) all had PNH-related symptoms (p <0.001). Granulocyte clone size showed better correlation with VAF than RBC clone size (Granulocyte r=0.61, p=0.01, RBC r=0.39, p=0.14). On the other hand, RBC clone size was better reflective of PNH-related symptoms with a cut-off of 15% (p <0.001). We found no significant laboratory parameter for prediction of Eculizumab treatment response.

Conclusion
Patients with >10% granulocyte PNH clone by FCM were always accompanied by PIG gene mutation. Those with >15% RBC PNH clone by FCM all had PNH-related symptoms. Weak correlation between granulocyte clone size and VAF of PIG gene mutation implies that granulocyte clone reflects the real PNH clonal burden.

Session topic: 12. Bone marrow failure syndromes incl. PNH - Clinical

Keyword(s): Flow cytometry

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