PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution assessment using NGS-based immunoglobulin clonality and mutation analysis.
Publication year
2023Source
Virchows Archiv, 483, 1, (2023), pp. 105-110ISSN
Annotation
01 juli 2023
Publication type
Article / Letter to editor
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Organization
Pathology
Haematology
Laboratory Medicine
Journal title
Virchows Archiv
Volume
vol. 483
Issue
iss. 1
Page start
p. 105
Page end
p. 110
Subject
Radboudumc 16: Vascular damage Haematology; Radboudumc 2: Cancer development and immune defence Laboratory Medicine; Radboudumc 2: Cancer development and immune defence Pathology; Radboudumc 9: Rare cancers Pathology; Radboud University Medical CenterAbstract
Clonality assessment by the detection of immunoglobulin (IG) gene rearrangements is an important method to determine whether two concurrent or subsequent lymphoid malignancies in one patient are clonally related. Here, we report the detailed clonality analysis in a patient with a diagnosis of B-cell acute lymphoblastic leukemia (B-ALL) followed by a histiocytic sarcoma (HS), in which we were able to study clonal evolution by applying next generation sequencing (NGS) to identify IG rearrangements and gene mutations. Using the sequence information of the NGS-based IG clonality analysis, multiple related subclones could be distinguished in the PAX5 P80R-mutated B-ALL. Notably, only one of these subclones evolved into HS after acquiring a RAF1 mutation. This case demonstrates that NGS-based IG clonality assessment and mutation analysis provide clear added value for clonal comparison and thereby improves clinicobiological understanding.
This item appears in the following Collection(s)
- Academic publications [245263]
- Electronic publications [132514]
- Faculty of Medical Sciences [93208]
- Open Access publications [106133]
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