New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis

A Reiter, TI George, J Gotlib - … Journal of the American Society of …, 2020 - ashpublications.org
Systemic mastocytosis (SM) has greatly benefited from the broad application of precision
medicine techniques to hematolymphoid neoplasms. Sensitive detection of the recurrent KIT …

Mast cell ontogeny: From fetal development to life‐long health and disease

SL Chia, S Kapoor, C Carvalho… - Immunological …, 2023 - Wiley Online Library
Mast cells (MCs) are evolutionarily ancient innate immune cells with important roles in
protective immunity against bacteria, parasites, and venomous animals. They can be found …

Mast cell activation syndromes: collegium internationale allergologicum update 2022

P Valent, K Hartmann, P Bonadonna… - International archives of …, 2022 - karger.com
Mast cell activation syndromes (MCASs) are defined by systemic severe and recurrent mast
cell activation, usually in form of anaphylaxis, a substantial, event-related increase of the …

Avapritinib for advanced systemic mastocytosis

J Gotlib, A Reiter, DJ DeAngelo - Blood, The Journal of the …, 2022 - ashpublications.org
Avapritinib, a highly selective inhibitor of KIT D816V, was approved by the Food and Drug
Administration in 2021 for treatment of advanced systemic mastocytosis (AdvSM) and by the …

Fetal-derived immune cells at the roots of lifelong pathophysiology

E Mass, R Gentek - Frontiers in cell and developmental biology, 2021 - frontiersin.org
Tissue-resident innate immune cells exert a wide range of functions in both adult
homeostasis and pathology. Our understanding of when and how these cellular networks …

The role of mast cells in the induction and maintenance of inflammation in selected skin diseases

E Woźniak, A Owczarczyk-Saczonek, M Lange… - International Journal of …, 2023 - mdpi.com
Under physiological conditions, skin mast cells play an important role as guardians that
quickly react to stimuli that disturb homeostasis. These cells efficiently support, fight …

The genetics of human hematopoiesis and its disruption in disease

EL Bao, AN Cheng, VG Sankaran - EMBO molecular medicine, 2019 - embopress.org
Hematopoiesis, or the process of blood cell production, is a paradigm of multi‐lineage
cellular differentiation that has been extensively studied, yet in many aspects remains …

Proposed European Competence Network on Mastocytosis—American Initiative in Mast Cell Diseases (ECNM-AIM) Response Criteria in Advanced Systemic …

J Gotlib, J Schwaab, W Shomali, TI George… - The Journal of Allergy …, 2022 - Elsevier
Advanced systemic mastocytosis (AdvSM) is characterized by the presence of KIT D816V
and other somatic mutations (eg, in SRSF2, ASXL1, and RUNX1) in 95% and 60% to 70% of …

Clinical impact of inherited and acquired genetic variants in mastocytosis

B Nedoszytko, M Arock, JJ Lyons, G Bachelot… - International journal of …, 2021 - mdpi.com
Mastocytosis is a rare and complex disease characterized by expansion of clonal mast cells
(MC) in skin and/or various internal organ systems. Involvement of internal organs leads to …

Nintedanib targets KIT D816V neoplastic cells derived from induced pluripotent stem cells of systemic mastocytosis

MAS Toledo, M Gatz, S Sontag… - Blood, The Journal …, 2021 - ashpublications.org
Abstract The KIT D816V mutation is found in> 80% of patients with systemic mastocytosis
(SM) and is key to neoplastic mast cell (MC) expansion and accumulation in affected organs …