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Open Access 14-10-2022 | Acute Lymphoblastic Leukemia | Brief Report

PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution assessment using NGS-based immunoglobulin clonality and mutation analysis

Authors: Leonie I. Kroeze, B. Scheijen, K. M. Hebeda, J. Rijntjes, J. A. C. W. Luijks, D. Evers, W. Hobo, P. J. T. A. Groenen, M. van den Brand

Published in: Virchows Archiv | Issue 1/2023

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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Title: PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution assessment using NGS-based immunoglobulin clonality and mutation analysis
Authors: Leonie I. Kroeze
B. Scheijen
K. M. Hebeda
J. Rijntjes
J. A. C. W. Luijks
D. Evers
W. Hobo
P. J. T. A. Groenen
M. van den Brand
Publication date: 14-10-2022
Publisher: Springer Berlin Heidelberg
Keywords: Acute Lymphoblastic Leukemia
Sarcoma
Published in: Virchows Archiv / Issue 1/2023
Print ISSN: 0945-6317
Electronic ISSN: 1432-2307
DOI: https://doi.org/10.1007/s00428-022-03428-y

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PAX5 P80R-mutated B-cell acute lymphoblastic leukemia with transformation to histiocytic sarcoma: clonal evolution assessment using NGS-based immunoglobulin clonality and mutation analysis

Abstract

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Abstract

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