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
Hauptverfasser: Poscente, M, Tolomeo, D, Arshadi, A, Agostini, A, L'Abbate, A, Solimando, A.G., Palumbo, O, Carella, M, Palumbo, P, González, T, Hernández-Rivas, JM, Bassi, L, Isidori, R, Dell'Aquila, M, Trapè, G, Latagliata, R, Pessina, G, Natoni, F, Storlazzi, CT
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