Clinical impact and proposed application of molecular markers, genetic variants, and cytogenetic analysis in mast cell neoplasms: Status 2022

Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis

(2021) Gabriella Galatà et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis

(2021) Boguslaw Nedoszytko et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Proposed global prognostic score for systemic mastocytosis: a retrospective prognostic modelling study

(2021) Javier I Muñoz-González et al.   Lancet Haematology

Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021

(2021) Magdalena Lange et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical Impact of Skin Lesions in Mastocytosis: A Multicenter Study of the European Competence Network on Mastocytosis (ECNM)

(2021) Elisabeth Aberer et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Familial occurrence of systemic and cutaneous mastocytosis in an adult multicentre series

(2021) Ilaria Tanasi et al.   BRITISH JOURNAL OF HAEMATOLOGY

Epigenetic Changes in Neoplastic Mast Cells and Potential Impact in Mastocytosis

(2021) Edyta Reszka et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Genetic Basis and Clinical Impact of Hereditary Alpha-Tryptasemia

(2021) Kathleen T. Luskin et al.   Journal of Allergy and Clinical Immunology-In Practice

Inherited and acquired determinants of serum tryptase levels in humans

(2021) Jonathan J. Lyons   ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY

Frequency and prognostic impact of blood-circulating tumor mast cells in mastocytosis

(2021) Ana Henriques et al.   BLOOD

Clinical and histopathological features of myeloid neoplasms with concurrent Janus kinase 2 ( JAK2 ) V617F and KIT proto‐oncogene, receptor tyrosine kinase ( KIT ) D816V mutations

(2021) Nicole Naumann et al.   BRITISH JOURNAL OF HAEMATOLOGY

Hereditary alpha tryptasemia is not associated with specific clinical phenotypes

(2021) Madeleine B. Chollet et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Efficacy and safety of avapritinib in advanced systemic mastocytosis: interim analysis of the phase 2 PATHFINDER trial

(2021) Jason Gotlib et al.   NATURE MEDICINE

Safety and efficacy of avapritinib in advanced systemic mastocytosis: the phase 1 EXPLORER trial

(2021) Daniel J. DeAngelo et al.   NATURE MEDICINE

Clinical Features and Survival of Patients with Indolent Systemic Mastocytosis defined by the Updated WHO Classification

(2020) Jakub Trizuljak et al.   ALLERGY

New Developments in Diagnosis, Prognostication, and Treatment of Advanced Systemic Mastocytosis

(2020) Andreas Reiter et al.   BLOOD

Importance of adequate diagnostic work-up for correct diagnosis of advanced systemic mastocytosis

(2020) Juliana Schwaab et al.   Journal of Allergy and Clinical Immunology-In Practice

Hereditary alpha tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis

(2020) Georg Greiner et al.   BLOOD

Heritable risk for severe anaphylaxis associated with increased α-tryptase-encoding germline copy number at TPSAB1

(2020) Jonathan J. Lyons et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Criteria for the regression of pediatric mastocytosis: a long-term follow-up

(2020) Laura Polivka et al.   Journal of Allergy and Clinical Immunology-In Practice

Scoring the Risk of Having Systemic Mastocytosis in Adult Patients with Mastocytosis in the Skin

(2020) David Fuchs et al.   Journal of Allergy and Clinical Immunology-In Practice

KIT D816 mutated/CBF-negative acute myeloid leukemia: a poor-risk subtype associated with systemic mastocytosis

(2019) Mohamad Jawhar et al.   LEUKEMIA

World Health Organization class-independent risk categorization in mastocytosis

(2019) Animesh Pardanani et al.   Blood Cancer Journal

Molecular quantification of tissue disease burden is a new biomarker and independent predictor of survival in mastocytosis

(2019) Georg Greiner et al.   HAEMATOLOGICA

Frequency and prognostic impact of KIT and other genetic variants in indolent systemic mastocytosis

(2019) Javier I. Muñoz-González et al.   BLOOD

Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches

(2019) Peter Valent et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

MARS: Mutation-Adjusted Risk Score for Advanced Systemic Mastocytosis

(2019) Mohamad Jawhar et al.   JOURNAL OF CLINICAL ONCOLOGY

Systemic Mastocytosis with Associated Primary Myelofibrosis

(2019) Marianna Greco et al.   INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION

New developments in the field of mastocytosis and mast cell activation syndromes: a summary of the Annual Meeting of the European Competence Network on Mastocytosis (ECNM) 2019

(2019) Michel Arock et al.   LEUKEMIA & LYMPHOMA

International prognostic scoring system for mastocytosis (IPSM): a retrospective cohort study

(2019) Wolfgang R Sperr et al.   Lancet Haematology

Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis

(2018) Nicole Naumann et al.   GENES CHROMOSOMES & CANCER

First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease

(2018) Vito Sabato et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory-specific incidence and prognostic impact among 348 informative cases

(2018) Sahrish Shah et al.   AMERICAN JOURNAL OF HEMATOLOGY

Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial

(2017) D J DeAngelo et al.   LEUKEMIA

SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis

(2017) G Martinelli et al.   LEUKEMIA

Next-generation sequencing in systemic mastocytosis: Derivation of a mutation-augmented clinical prognostic model for survival

(2016) Animesh Pardanani et al.   AMERICAN JOURNAL OF HEMATOLOGY

Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts

(2016) Peter Valent et al.   BLOOD

Impact of centralized evaluation of bone marrow histology in systemic mastocytosis

(2016) Mohamad Jawhar et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice

(2016) C. Ustun et al.   HAEMATOLOGICA

Clinical, immunophenotypic, and molecular characteristics of well-differentiated systemic mastocytosis

(2016) Iván Álvarez-Twose et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Splenomegaly, elevated alkaline phosphatase and mutations in the SRSF2/ASXL1/RUNX1 gene panel are strong adverse prognostic markers in patients with systemic mastocytosis

(2016) M Jawhar et al.   LEUKEMIA

Mast cell sarcoma: new cases and literature review

(2016) Jilliana Monnier et al.   Oncotarget

Imatinib in systemic mastocytosis: a phase IV clinical trial in patients lacking exon 17 KIT mutations and review of the literature

(2016) Iván Alvarez-Twose et al.   Oncotarget

Germline mutations of KIT in gastrointestinal stromal tumor (GIST) and mastocytosis

(2016) Hengning Ke et al.   Cell and Bioscience

Advanced systemic mastocytosis: from molecular and genetic progress to clinical practice

(2016) C. Ustun et al.   HAEMATOLOGICA

KITD816VandJAK2V617Fmutations are seen recurrently in hypereosinophilia of unknown significance

(2015) Juliana Schwaab et al.   AMERICAN JOURNAL OF HEMATOLOGY

KIT D816V-mutated bone marrow mesenchymal stem cells in indolent systemic mastocytosis are associated with disease progression

(2015) A. C. Garcia-Montero et al.   BLOOD

ASXL1andCBLmutations are independently predictive of inferior survival in advanced systemic mastocytosis

(2015) Animesh D. Pardanani et al.   BRITISH JOURNAL OF HAEMATOLOGY

Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event

(2015) M Jawhar et al.   LEUKEMIA

KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis

(2015) M Arock et al.   LEUKEMIA

Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V+ advanced systemic mastocytosis

(2015) M Jawhar et al.   LEUKEMIA

Diagnosis and management of mastocytosis: an emerging challenge in applied hematology

(2015) P. Valent   Hematology-American Society of Hematology Education Program

TheKITD816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease

(2014) G. Hoermann et al.   ALLERGY

SRSF2-p95 hotspot mutation is highly associated with advanced forms of mastocytosis and mutations in epigenetic regulator genes

(2014) K. Hanssens et al.   HAEMATOLOGICA

Molecular Defects in Mastocytosis

(2014) Siham Bibi et al.   IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA

Novel R634W c-kit Mutation Identified in Familial Mastocytosis

(2014) Whitney L. Pollard et al.   PEDIATRIC DERMATOLOGY

ASXL1 but Not TET2 Mutations Adversely Impact Overall Survival of Patients Suffering Systemic Mastocytosis with Associated Clonal Hematologic Non-Mast-Cell Diseases

(2014) Gandhi Damaj et al.   PLoS One

Comprehensive mutational profiling in advanced systemic mastocytosis

(2013) J. Schwaab et al.   BLOOD

Pediatric Mastocytosis: A Review of the Literature

(2013) Marianne Frieri et al.   Pediatric Allergy Immunology and Pulmonology

Mast cell leukemia

(2012) S. Georgin-Lavialle et al.   BLOOD

In aggressive forms of mastocytosis, TET2 loss cooperates with c-KITD816V to transform mast cells

(2012) E. Soucie et al.   BLOOD

Mast cell leukemia: identification of a new c-Kit mutation, dup(501-502), and response to masitinib, a c-Kit tyrosine kinase inhibitor

(2012) Sophie Georgin-Lavialle et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

Stem Cell Factor Receptor/c-Kit: From Basic Science to Clinical Implications

(2012) Johan Lennartsson et al.   PHYSIOLOGICAL REVIEWS

Single Nucleotide Polymorphism Array Lesions, TET2, DNMT3A, ASXL1 and CBL Mutations Are Present in Systemic Mastocytosis

(2012) Fabiola Traina et al.   PLoS One

Diagnosis, progression patterns and prognostication in mastocytosis

(2012) Wolfgang R Sperr et al.   Expert Review of Hematology

Pediatric mastocytosis-associated KIT extracellular domain mutations exhibit different functional and signaling properties compared with KIT-phosphotransferase domain mutations

(2010) Y. Yang et al.   BLOOD

Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors

(2009) K.-H. Lim et al.   BLOOD

Prognosis in adult indolent systemic mastocytosis: A long-term study of the Spanish Network on Mastocytosis in a series of 145 patients

(2009) Luis Escribano et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Pediatric Mastocytosis Is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations

(2009) Christine Bodemer et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Variable presence ofKITD816Vin clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD)

(2009) Karl Sotlar et al.   JOURNAL OF PATHOLOGY

Mast cells and mastocytosis

(2008) D. D. Metcalfe   BLOOD

Systemic Mastocytosis Associated with Chronic Idiopathic Myelofibrosis

(2007) Karl Sotlar et al.   JOURNAL OF MOLECULAR DIAGNOSTICS