A RUNX1: RUNX1T1 AML with a simultaneous false positive KMT2A rearrangement: FISH interpretation pitfalls
rearrangement ( ) is a common genomic alteration in acute leukemia that can be effectively targeted by menin inhibitors. While FISH is the standard laboratory test for , false positives can occur. We present a case of AML in which both and were identified by karyotype analysis and FISH. Although a t...
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Veröffentlicht in: | Hematology (Luxembourg) 2024-12, Vol.29 (1), p.2420306 |
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Hauptverfasser: | , , , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | rearrangement (
) is a common genomic alteration in acute leukemia that can be effectively targeted by menin inhibitors. While FISH is the standard laboratory test for
, false positives can occur.
We present a case of AML in which both
and
were identified by karyotype analysis and FISH. Although a targeted RNA next generation sequencing (NGS) assay confirmed the presence of the
fusion, it did not detect a
fusion transcript. To investigate the discrepancy between the positive
FISH result and the negative fusion transcript, we performed whole-genome mate-pair DNA NGS to examine the
locus on chromosome 11q23. This analysis revealed a breakpoint located 5.8 kb downstream of
, which did not disrupt the gene itself. Given that
FISH probes cover approximately 1 Mb around
, this subtle shift led to a split-apart signal pattern mimicking a genuine
rearrangement, resulting in a false positive FISH interpretation.
This case highlights a false positive
in primary AML, indicating the need for additional molecular testing for confirmation. |
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ISSN: | 1607-8454 1607-8454 |
DOI: | 10.1080/16078454.2024.2420306 |