Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation

Systemic mastocytosis (SM) is a rare myeloproliferative neoplasm characterized by abnormal mast cell (MCs) clonal proliferation and accumulation in organ systems. It is diagnosed based on the WHO2016 criteria and divided into different forms [1], including aggressive systemic mastocytosis (ASM), accounting for less than 10% of all SM cases and included among the “advanced SM”. ASM has bone marrow (BM) smear with

Source: Cancer Genetics and Cytogenetics - March 6, 2024 Category: Genetics & Stem Cells Authors: M Poscente, D Tolomeo, A Arshadi, A Agostini, A L'Abbate, A.G. Solimando, O Palumbo, M Carella, P Palumbo, T Gonz ález, JM Hernández-Rivas, L Bassi, R Isidori, M Dell'Aquila, G Trapè, R Latagliata, G Pessina, F Natoni, CT Storlazzi Tags: Short Communication Source Type: research