Research & Literature

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

Valent P

Hematology. American Society of Hematology. Education Program 2015; (2015()):98-105 doi:10.1182/asheducation-2015.1.98.

Hymenoptera Allergy and Mast Cell Activation Syndromes.

Bonadonna P, Bonifacio M, Lombardo C, Zanotti R

Current allergy and asthma reports 2016; (16(1)):5 doi:10.1007/s11882-015-0582-5.

Impact of centralized evaluation of bone marrow histology in systemic mastocytosis.

Jawhar M, Schwaab J, Horny HP, et al.

European journal of clinical investigation 2016; (46(5)):392-7 doi:10.1111/eci.12607.

Efficacy and Safety of Midostaurin in Advanced Systemic Mastocytosis.

Gotlib J, Kluin-Nelemans HC, George TI, et al.

The New England journal of medicine 2016; (374(26)):2530-41 doi:10.1056/NEJMoa1513098.

The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm.

Jawhar M, Schwaab J, Meggendorfer M, et al.

Haematologica 2017; (102(6)):1035-1043 doi:10.3324/haematol.2017.163964.

Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers.

Jawhar M, Schwaab J, Naumann N, et al.

Blood 2017; (130(2)):137-145 doi:10.1182/blood-2017-01-764423.

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

DeAngelo DJ, George TI, Linder A, et al.

Leukemia 2018; (32(2)):470-478 doi:10.1038/leu.2017.234.

Idiopathic Anaphylaxis.

Nwaru BI, Dhami S, Sheikh A

Current treatment options in allergy 2017; (4(3)):312-319 doi:10.1007/s40521-017-0136-2.

How to manage anaphylaxis in primary care.

Alvarez-Perea A, Tanno LK, Baeza ML

Clinical and translational allergy 2017; (7()):45 doi:10.1186/s13601-017-0182-7.

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

Naumann N, Jawhar M, Schwaab J, et al.

Genes, chromosomes & cancer 2018; (57(5)):252-259 doi:10.1002/gcc.22526.

De novo mast cell leukemia without CD25 expression and KIT mutations: a rare case report in a 13-year-old child.

Zheng Y, Nong L, Liang L, et al.

Diagnostic pathology 2018; (13(1)):14 doi:10.1186/s13000-018-0691-2.

The Mastocytosis Society Survey on Mast Cell Disorders: Part 2-Patient Clinical Experiences and Beyond.

Russell N, Jennings S, Jennings B, et al.

The journal of allergy and clinical immunology. In practice 2019; (7(4)):1157-1165.e6 doi:10.1016/j.jaip.2018.07.032.

FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis.

Kasamon YL, Ko CW, Subramaniam S, et al.

The oncologist 2018; (23(12)):1511-1519 doi:10.1634/theoncologist.2018-0222.

A registry-based analysis of survival outcomes in mast cell leukemia.

Budnik J, Milano MT

Leukemia research 2019; (78()):24-28 doi:10.1016/j.leukres.2019.01.005.

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

Greiner G, Gurbisz M, Ratzinger F, et al.

Haematologica 2020; (105(2)):366-374 doi:10.3324/haematol.2019.217950.

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

Valent P, Akin C, Gleixner KV, et al.

International journal of molecular sciences 2019; (20(12)) doi:10.3390/ijms20122976.

MARS: Mutation-Adjusted Risk Score for Advanced Systemic Mastocytosis.

Jawhar M, Schwaab J, Álvarez-Twose I, et al.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019; (37(31)):2846-2856 doi:10.1200/JCO.19.00640.

Mast Cell Leukemia with Ascites and Multiple Organs Damage.

Jafari E, Hadipour A, Kalantari Khandani B, Abolhasani F

Iranian journal of pathology 2019; (14(3)):265-269 doi:10.30699/ijp.2019.96187.1948.

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

Reiter A, George TI, Gotlib J

Blood 2020; (135(16)):1365-1376 doi:10.1182/blood.2019000932.

Pharmacotherapy in Mast Cell Leukemia.

Laforgia M, Calabrò C, Scattone A, et al.

Expert opinion on pharmacotherapy 2020; (21(9)):1059-1069 doi:10.1080/14656566.2020.1744566.

Non-hematologic diagnosis of systemic mastocytosis: Collaboration of radiology and pathology.

Ozturk K, Cayci Z, Gotlib J, et al.

Blood reviews 2021; (45()):100693 doi:10.1016/j.blre.2020.100693.

Systemic Mastocytosis: Following the Tyrosine Kinase Inhibition Roadmap.

Piris-Villaespesa M, Alvarez-Twose I

Frontiers in pharmacology 2020; (11()):443 doi:10.3389/fphar.2020.00443.

Midostaurin improves quality of life and mediator-related symptoms in advanced systemic mastocytosis.

Hartmann K, Gotlib J, Akin C, et al.

The Journal of allergy and clinical immunology 2020; (146(2)):356-366.e4 doi:10.1016/j.jaci.2020.03.044.

Mastocytosis: One Word for Different Diseases.

Criscuolo M, Fianchi L, Maraglino AME, Pagano L

Oncology and therapy 2018; (6(2)):129-140 doi:10.1007/s40487-018-0086-2.

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

Muñoz-González JI, Álvarez-Twose I, Jara-Acevedo M, et al.

The Lancet. Haematology 2021; (8(3)):e194-e204 doi:10.1016/S2352-3026(20)30400-2.

Proceedings from the Inaugural American Initiative in Mast Cell Diseases (AIM) Investigator Conference.

Gotlib J, George TI, Carter MC, et al.

The Journal of allergy and clinical immunology 2021; (147(6)):2043-2052 doi:10.1016/j.jaci.2021.03.008.

Gastrointestinal Manifestations in Systemic Mastocytosis: The Need of a Multidisciplinary Approach.

Zanelli M, Pizzi M, Sanguedolce F, et al.

Cancers 2021; (13(13)) doi:10.3390/cancers13133316.

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

Gotlib J, Reiter A, Radia DH, et al.

Nature medicine 2021; (27(12)):2192-2199 doi:10.1038/s41591-021-01539-8.

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

DeAngelo DJ, Radia DH, George TI, et al.

Nature medicine 2021; (27(12)):2183-2191 doi:10.1038/s41591-021-01538-9.

A Multidisciplinary Diagnostic Approach Reveals a Higher Prevalence of Indolent Systemic Mastocytosis: 15-Years' Experience of the GISM Network.

Zanotti R, Bonifacio M, Isolan C, et al.

Cancers 2021; (13(24)) doi:10.3390/cancers13246380.

Standards of Genetic Testing in the Diagnosis and Prognostication of Systemic Mastocytosis in 2022: Recommendations of the EU-US Cooperative Group.

Hoermann G, Sotlar K, Jawhar M, et al.

The journal of allergy and clinical immunology. In practice 2022; (10(8)):1953-1963 doi:10.1016/j.jaip.2022.03.001.

Efficacy and safety of avapritinib in previously treated patients with advanced systemic mastocytosis.

Reiter A, Schwaab J, DeAngelo DJ, et al.

Blood advances 2022; (6(21)):5750-5762 doi:10.1182/bloodadvances.2022007539.

Mast cell leukemia with novel BRAF variant and concomitant atypical KIT variant.

Chen T, Malysz J, Washburn E, et al.

Cancer genetics 2022; (266-267()):33-36 doi:10.1016/j.cancergen.2022.05.040.

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

Gotlib J, Schwaab J, Shomali W, et al.

The journal of allergy and clinical immunology. In practice 2022; (10(8)):2025-2038.e1 doi:10.1016/j.jaip.2022.05.034.

Standards of Pathology in the Diagnosis of Systemic Mastocytosis: Recommendations of the EU-US Cooperative Group.

Sotlar K, George TI, Kluin P, et al.

The journal of allergy and clinical immunology. In practice 2022; (10(8)):1986-1998.e2 doi:10.1016/j.jaip.2022.05.036.

Acute abdomen due to anaphylactic intestinal edema associated with systematic mastocytosis: a case report.

Takagishi T, Miki K, Imashuku S, Takagishi K

International journal of emergency medicine 2022; (15(1)):38 doi:10.1186/s12245-022-00441-5.

Mast cell leukemia: clinical and molecular features and survival outcomes of patients in the ECNM Registry.

Kennedy VE, Perkins C, Reiter A, et al.

Blood advances 2023; (7(9)):1713-1724 doi:10.1182/bloodadvances.2022008292.

How to evaluate the patient with a suspected mast cell disorder and how/when to manage symptoms.

Akin C

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):55-63 doi:10.1182/hematology.2022000366.

Available and emerging therapies for bona fide advanced systemic mastocytosis and primary eosinophilic neoplasms.

Gotlib J

Hematology. American Society of Hematology. Education Program 2022; (2022(1)):34-46 doi:10.1182/hematology.2022000368.

European Competence Network on Mastocytosis (ECNM): 20-Year Jubilee, Updates, and Future Perspectives.

Valent P, Hartmann K, Bonadonna P, et al.

The journal of allergy and clinical immunology. In practice 2023; (11(6)):1706-1717 doi:10.1016/j.jaip.2023.02.021.

Mast Cell Leukemia: An Update with a Practical Review.

Zanelli M, Quintini M, Magnasco S, et al.

Cancers 2023; (15(6)) doi:10.3390/cancers15061664.

Response and resistance to cladribine in patients with advanced systemic mastocytosis: a registry-based analysis.

Lübke J, Naumann N, Metzgeroth G, et al.

Annals of hematology 2023; (102(8)):2077-2085 doi:10.1007/s00277-023-05180-y.

Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management.

Pardanani A

American journal of hematology 2023; (98(7)):1097-1116 doi:10.1002/ajh.26962.

Advanced Systemic Mastocytosis with associated haematological neoplasm: Treatment with avapritinib can facilitate successful bridge to allogeneic haematopoietic cell transplant.

Sriskandarajah P, McLornan DP, Oni C, et al.

Current research in translational medicine 2023; (71(3)):103398 doi:10.1016/j.retram.2023.103398.

KIT Mutations and Other Genetic Defects in Mastocytosis: Implications for Disease Pathology and Targeted Therapies.

Chantran Y, Valent P, Arock M

Immunology and allergy clinics of North America 2023; (43(4)):651-664 doi:10.1016/j.iac.2023.04.008.

Granularity in disease classification impacts survival prediction in advanced systemic mastocytosis: A single institution study of 329 informative cases.

Tefferi A, Abdelmagid M, Al-Kali A, et al.

American journal of hematology 2024; (99(1)):21-27 doi:10.1002/ajh.27113.

Advanced systemic mastocytosis-Revised classification, new drugs and how we treat.

Pardanani A, Reichard K, Tefferi A

British journal of haematology 2024; (204(2)):402-414 doi:10.1111/bjh.19245.

Review and Updates on Systemic Mastocytosis and Related Entities.

Li JY, Ryder CB, Zhang H, et al.

Cancers 2023; (15(23)) doi:10.3390/cancers15235626.

Acute mast cell leukemia without KIT D816V mutation and lack of CD2 and CD25-a case report of rare entity.

Zaremba-Pataj E, Patkowska E, Krzywdzińska A, et al.

Journal of hematopathology 2023; (16(1)):39-47 doi:10.1007/s12308-022-00526-3.

Poor Applicability of Currently Available Prognostic Scoring Systems for Prediction of Outcome in KIT D816V-Negative Advanced Systemic Mastocytosis.

Naumann N, Rudelius M, Lübke J, et al.

Cancers 2024; (16(3)) doi:10.3390/cancers16030593.

Allogeneic Hematopoietic Cell Transplantation in Advanced Systemic Mastocytosis: A retrospective analysis of the DRST and GREM registries.

Lübke J, Christen D, Schwaab J, et al.

Leukemia 2024; (38(4)):810-821 doi:10.1038/s41375-024-02186-x.

Allogeneic haematopoietic cell transplantation for advanced systemic mastocytosis: Best practice recommendations on behalf of the EBMT Practice Harmonisation and Guidelines Committee.

McLornan DP, Czerw T, Damaj G, et al.

Leukemia 2024; (38(4)):699-711 doi:10.1038/s41375-024-02182-1.

Serum chemistry profiling and prognostication in systemic mastocytosis: a registry-based study of the ECNM and GREM.

Lübke J, Schmid A, Christen D, et al.

Blood advances 2024; (8(11)):2890-2900 doi:10.1182/bloodadvances.2024012756.

How I diagnose systemic mastocytosis.

Rets AV, George TI

American journal of clinical pathology 2024; (162(4)):332-348 doi:10.1093/ajcp/aqae047.

Treatment refractory mast cell leukemia with dominant gastrointestinal manifestation and concomitant skin symptoms: A case report.

Wysocki MT, Gonciarz M, Puła B

World journal of clinical cases 2024; (12(20)):4317-4324 doi:10.12998/wjcc.v12.i20.4317.

Diagnosis and management of anaphylaxis.

Hearrell M, Anagnostou A

Journal of food allergy 2020; (2(1)):64-68 doi:10.2500/jfa.2020.2.200001.

MASTering systemic mastocytosis: Lessons learned from a large patient cohort.

Tse KY, Chen W, Puttock EJ, et al.

The journal of allergy and clinical immunology. Global 2024; (3(4)):100316 doi:10.1016/j.jacig.2024.100316.

Systemic Mastocytosis in 910 Patients: Prognostic Contribution of the International Consensus Classification in the Context of the Mayo Alliance Prognostic System.

Aperna F, Abdelmagid MG, Kumar M, et al.

American journal of hematology 2025; (100(9)):1566-1576 doi:10.1002/ajh.27764.

Case report: Experience of a rare case of primary acute mast cell leukemia.

Pan Z, Zhang Y, Guo Y, et al.

Leukemia research reports 2025; (23()):100510 doi:10.1016/j.lrr.2025.100510.

Necrotizing Fasciitis by Extended-Spectrum Beta-Lactamase-Producing Escherichia coli as the Initial Presentation of Hairy Cell Leukemia: A Case Report.

Pérez-Valdez D, Sánchez-Rosado RR, Ortiz-Pacheco LJ, et al.

Cureus 2025; (17(7)):e88614 doi:10.7759/cureus.88614.

Mast Cell Leukemia: Comprehensive Review of Literature With Current Insights and Updates on Management.

Idamakanti M, Ebaid A, Bijjam RI, Bakhirev A

Journal of hematology 2025; (14(4)):174-192 doi:10.14740/jh2104.

KIT-Targeting Drugs in the Management of Nonadvanced and Advanced Systemic Mastocytosis.

Reiter A, Rossignol J, Deininger MW, et al.

The journal of allergy and clinical immunology. In practice 2026; (14(1)):44-52 doi:10.1016/j.jaip.2025.10.034.

Diagnosis and management of mast cell activation syndrome (MCAS) in Canada: a practical approach.

Lee E, Picard M

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2025; (21(1)):49 doi:10.1186/s13223-025-00998-9.

Efficacy and safety of avapritinib in advanced systemic mastocytosis: 4-year follow-up of the PATHFINDER study.

Gotlib J, Reiter A, Radia DH, et al.

Blood advances 2026; (10(10)):3676-3689 doi:10.1182/bloodadvances.2025017519.

Symptom patterns before and after indolent systemic mastocytosis: A matched cohort analysis.

Tse KY, Zhou M, Zeiger RS, et al.

The journal of allergy and clinical immunology. Global 2026; (5(3)):100687 doi:10.1016/j.jacig.2026.100687.

Definition of Competencies for Allergology Specialty/Subspecialty Training in Mast Cell Disorders in Europe: An EAACI Position Paper.

Rama TA, Gulen T, Brockow K, et al.

Allergy 2026; (81(8)):2713-2725 doi:10.1111/all.70344.

Case Report: Experience of a rare case of primary acute mast cell leukemia with FGFR1 gene rearrangement.

Liu Y, Gao S, Du H, et al.

Frontiers in oncology 2026; (16()):1830652 doi:10.3389/fonc.2026.1830652.

Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management.

Pardanani A

American journal of hematology 2026; (101(9)):2371-2392 doi:10.1002/ajh.70395.

Systemic Mastocytosis Presenting as Non-cirrhotic Portal Hypertension With Upper Gastrointestinal Bleeding in a Young Female Patient: A Case Report.

Jangid A, Pandey P, Siddiqui MSI, et al.

Cureus 2026; (18(5)):e109267 doi:10.7759/cureus.109267.

Case Report: aleukemic mast cell leukemia with KIT p.V559G mutation, CD25-negative immunophenotype, and complex karyotype.

Zhang L, Jiang L, Zhang X, et al.

Frontiers in oncology 2026; (16()):1878036 doi:10.3389/fonc.2026.1878036.

Systemic Mastocytosis: Molecular Pathophysiology, WHO Diagnostic Framework, and KIT-Directed Targeted Therapies.

Alati C, Greve MB, Porto G, et al.

Cancers 2026; (18(14)) doi:10.3390/cancers18142205.

Subtype-specific outcome after allogeneic hematopoietic cell transplantation in advanced systemic mastocytosis: a registry study of the European competence network on mastocytosis.

Haug S, Sperr WR, Wehr C, et al.

Experimental hematology & oncology 2026; (15(1)).

Predicting the clinical course of advanced systemic mastocytosis on treatment with avapritinib or midostaurin.

Lübke J, Gotlib J, DeAngelo DJ, et al.

Leukemia 2026; (40(11)):2562-2572 doi:10.1038/s41375-026-03149-0.