Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation
•RUNX1 mutation and three chimeras were found in ASM without KIT D816V and JAK2 V617F.•The novel KAT6A::NCOA2 and RXRA::NOTCH1 originated from cryptic abnormalities.•The PRKG2::PDGFRB chimera persisted in the evolution of the patients towards SM-AHN.•The combined transcriptional/mutational profiling...
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Veröffentlicht in: | Cancer genetics 2024-06, Vol.284-285, p.5-11 |
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Hauptverfasser: | , , , , , , , , , , , , , , , , , , |
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Sprache: | eng |
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