Aggressive systemic mastocytosis with the co-occurrence of PRKG2::PDGFRB, KAT6A::NCOA2, and RXRA::NOTCH1 fusion transcripts and a heterozygous RUNX1 frameshift mutation-Reference-Cited by-同舟云学术

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

Published:2024-06 Issue: Volume:284-285 Page:5-11
ISSN:2210-7762
Container-title:Cancer Genetics
language:en
Short-container-title:Cancer Genetics

Author:

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^ORCID

Funder

Associazione Italiana per la Ricerca sul Cancro

FIRC-AIRC

Publisher

Elsevier BV

Reference26 articles.

1. Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts;Valent;Blood,2017

2. New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis;Reiter;Blood,2020

3. Juxtamembrane mutant V560GKit is more sensitive to Imatinib (STI571) compared with wild-type c-kit whereas the kinase domain mutant D816VKit is resistant;Frost;Mol Cancer Ther,2002

4. Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high risk group of patients with KIT D816V+ advanced systemic mastocytosis;Jawhar;Blood,2015

5. Activity of imatinib in systemic mastocytosis with chronic basophilic leukemia and a PRKG2-PDGFRB fusion;Lahortiga;Haematologica,2008

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