ArticleVirchows Archiv : an international journal of pathology2023
PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution assessment using NGS-based immunoglobulin clonality and mutation analysis.
Article in Virchows Archiv : an international journal of pathology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 7 citations in OpenAlex.
- Histiocytosis development and clinical variation through the lens of genomics.The Journal of pathology · 2026Review
- Real-world experience with targeted therapy in patients with histiocytic neoplasms in the Netherlands and in Belgium.Blood neoplasia · 2024Article
- Diagnostic and prognostic molecular pathology of lymphoid malignancies.Virchows Archiv : an international journal of pathology · 2024Review
- Read the clonotype: Next-generation sequencing-based lymphocyte clonality analysis and perspectives for application in pathology.Frontiers in oncology · 2023Article
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9 authors at 1 institution in 1 country.
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Abstract
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.
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