Research & Literature

[Vulvar oedema revealing systemic mastocytosis].

Deveza E, Locatelli F, Girardin M, et al.

Annales de dermatologie et de venereologie 2015; (142(11)):685-9.

H1-antihistamines for primary mast cell activation syndromes: a systematic review.

Nurmatov UB, Rhatigan E, Simons FE, Sheikh A

Allergy 2015; (70(9)):1052-61 doi:10.1111/all.12672.

Mastocytosis: the puzzling clinical spectrum and challenging diagnostic aspects of an enigmatic disease.

Gülen T, Hägglund H, Dahlén B, Nilsson G

Journal of internal medicine 2016; (279(3)):211-28 doi:10.1111/joim.12410.

α-Gal-a new clue for anaphylaxis in mastocytosis.

Roenneberg S, Böhner A, Brockow K, et al.

The journal of allergy and clinical immunology. In practice 2016; (4(3)):531-2.

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.

[Anaphylaxis as part of a clinical diagnosis of mastocytosi - case demonstration].

Stobiecki M, Sacha M, Czarnobilska E

Przeglad lekarski 2015; (72(12)):783-6.

Endocrine manifestations of systemic mastocytosis in bone.

Greene LW, Asadipooya K, Corradi PF, Akin C

Reviews in endocrine & metabolic disorders 2016; (17(3)):419-431 doi:10.1007/s11154-016-9362-3.

Systemic Mastocytosis with Smoldering Multiple Myeloma: Report of a Case.

Ghanem S, Garcia G, Ying L, et al.

Case reports in oncological medicine 2016; (2016()):3161768 doi:10.1155/2016/3161768.

Mast Cell Disorders In Drug Hypersensitivity.

Bonadonna P, Bonifacio M, Zanotti R

Current pharmaceutical design 2016; (22(45)):6862-6869 doi:10.2174/1381612822666160928121857.

Pathogenesis and Pathology of Mastocytosis.

Metcalfe DD, Mekori YA

Annual review of pathology 2017; (12()):487-514 doi:10.1146/annurev-pathol-052016-100312.

Kounis Syndrome During Anesthesia: Presentation of Indolent Systemic Mastocytosis: A Case Report.

de la Fuente Tornero E, Vega Castro A, de Sierra Hernández PÁ, et al.

A & A case reports 2017; (8(9)):226-228 doi:10.1213/XAA.0000000000000474.

Routine abdominal ultrasonography has limited value in the care for patients with indolent systemic mastocytosis.

de Mol CL, Hermans MAW, Gerth van Wijk R, et al.

Hematology (Amsterdam, Netherlands) 2017; (22(9)):544-547 doi:10.1080/10245332.2017.1324377.

Insights in Anaphylaxis and Clonal Mast Cell Disorders.

González-de-Olano D, Álvarez-Twose I

Frontiers in immunology 2017; (8()):792 doi:10.3389/fimmu.2017.00792.

Systemic Mastocytosis: The Difficult Patient with a Rare Disease. Case Presentation and Brief Review.

Desmond DH, Carmichael MG

Hawai'i journal of medicine & public health : a journal of Asia Pacific Medicine & Public Health 2018; (77(2)):27-29.

A change in structural integrity of c-Kit mutant D816V causes constitutive signaling.

Raghav PK, Singh AK, Gangenahalli G

Mutation research 2018; (808()):28-38 doi:10.1016/j.mrfmmm.2018.02.001.

Bone Disease in Mastocytosis.

Orsolini G, Viapiana O, Rossini M, et al.

Immunology and allergy clinics of North America 2018; (38(3)):443-454 doi:10.1016/j.iac.2018.04.013.

c-KIT-Positive Fatal Diffuse Cutaneous Mastocytosis With Systemic Manifestations in a Neonate.

Chaudhary N, Shapiro N, Bhutada A, Rastogi S

Journal of pediatric hematology/oncology 2019; (41(5)):e338-e340 doi:10.1097/MPH.0000000000001271.

Aggressive Systemic Mastocytosis in Association with Pure Red Cell Aplasia.

Karam D, Swiatkowski S, Ravipati M, Agrawal B

Case reports in hematology 2018; (2018()):6928571 doi:10.1155/2018/6928571.

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.

Mast Cell Activation Syndrome and Mastocytosis: Initial Treatment Options and Long-Term Management.

Castells M, Butterfield J

The journal of allergy and clinical immunology. In practice 2019; (7(4)):1097-1106 doi:10.1016/j.jaip.2019.02.002.

Relevant updates in systemic mastocytosis.

Coltoff A, Mascarenhas J

Leukemia research 2019; (81()):10-18 doi:10.1016/j.leukres.2019.04.001.

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

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

Blood 2019; (134(5)):456-468 doi:10.1182/blood.2018886507.

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.

Idiopathic anaphylaxis.

Guo C, Greenberger PA

Allergy and asthma proceedings 2019; (40(6)):457-461 doi:10.2500/aap.2019.40.4271.

Midostaurin: Nursing Perspectives on Managing Treatment and Adverse Events in Patients With FLT3 Mutation-Positive Acute Myeloid Leukemia and Advanced Systemic Mastocytosis.

Galinsky I, Coleman M, Fechter L

Clinical journal of oncology nursing 2019; (23(6)):599-608 doi:10.1188/19.CJON.599-608.

Hematological Diseases and Osteoporosis.

Gaudio A, Xourafa A, Rapisarda R, et al.

International journal of molecular sciences 2020; (21(10)) doi:10.3390/ijms21103538.

Accurate Diagnosis and Prognosis in Systemic Mastocytosis: The Role of Mutational Analysis.

Weiler CR, Akin C

The journal of allergy and clinical immunology. In practice 2020; (8(9)):3128-3129 doi:10.1016/j.jaip.2020.06.030.

Optimal Avapritinib Treatment Strategies for Patients with Metastatic or Unresectable Gastrointestinal Stromal Tumors.

Joseph CP, Abaricia SN, Angelis MA, et al.

The oncologist 2021; (26(4)):e622-e631 doi:10.1002/onco.13632.

Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and management.

Pardanani A

American journal of hematology 2021; (96(4)):508-525 doi:10.1002/ajh.26118.

Long-Term Successful Treatment of Indolent Systemic Mastocytosis With Omalizumab.

Weiss SL, Hyman JB, Carlson GS, Coop CA

Federal practitioner : for the health care professionals of the VA, DoD, and PHS 2021; (38(1)):44-48 doi:10.12788/fp.0081.

Genetic Regulation of Tryptase Production and Clinical Impact: Hereditary Alpha Tryptasemia, Mastocytosis and Beyond.

Sprinzl B, Greiner G, Uyanik G, et al.

International journal of molecular sciences 2021; (22(5)) doi:10.3390/ijms22052458.

Health-Related Quality of Life and Influencing Factors in Adults with Nonadvanced Mastocytosis-A Cross-Sectional Study and Qualitative Approach.

Pulfer S, Ziehfreund S, Gebhard J, et al.

The journal of allergy and clinical immunology. In practice 2021; (9(8)):3166-3175.e2 doi:10.1016/j.jaip.2021.04.059.

Refined diagnostic criteria for bone marrow mastocytosis: a proposal of the European competence network on mastocytosis.

Zanotti R, Bonifacio M, Lucchini G, et al.

Leukemia 2022; (36(2)):516-524 doi:10.1038/s41375-021-01406-y.

Development of symptom-focused outcome measures for advanced and indolent systemic mastocytosis: the AdvSM-SAF and ISM-SAF©.

Taylor F, Akin C, Lamoureux RE, et al.

Orphanet journal of rare diseases 2021; (16(1)):414 doi:10.1186/s13023-021-02035-5.

Altered leukocyte subsets and immune proteome indicate proinflammatory mechanisms in mastocytosis.

Hermans MAW, Heeringa JJ, Swagemakers SGA, et al.

The Journal of allergy and clinical immunology 2022; (150(1)):146-156.e10 doi:10.1016/j.jaci.2021.12.786.

Idiopathic mast cell activation syndrome is more often suspected than diagnosed-A prospective real-life study.

Buttgereit T, Gu S, Carneiro-Leão L, et al.

Allergy 2022; (77(9)):2794-2802 doi:10.1111/all.15304.

Differential mast cell mediators in systemic mastocytosis and hereditary α-tryptasemia.

Giannetti MP, Godwin G, Weller E, et al.

The Journal of allergy and clinical immunology 2022; (150(5)):1225-1227 doi:10.1016/j.jaci.2022.04.025.

Systemic Mastocytosis and Other Entities Involving Mast Cells: A Practical Review and Update.

El Hussein S, Chifotides HT, Khoury JD, et al.

Cancers 2022; (14(14)) doi:10.3390/cancers14143474.

Living with systemic mastocytosis: Balancing between vulnerability and resilience: A qualitative study.

Levedahl KH, Nilsson A, Ungerstedt J, Hedström M

European journal of oncology nursing : the official journal of European Oncology Nursing Society 2022; (60()):102172 doi:10.1016/j.ejon.2022.102172.

Genetically defined individual reference ranges for tryptase limit unnecessary procedures and unmask myeloid neoplasms.

Chovanec J, Tunc I, Hughes J, et al.

Blood advances 2023; (7(9)):1796-1810 doi:10.1182/bloodadvances.2022007936.

Mastocytosis and related entities: a practical roadmap.

Beyens M, Elst J, van der Poorten ML, et al.

Acta clinica Belgica 2023; (78(4)):325-335 doi:10.1080/17843286.2022.2137631.

Disease correlates and clinical relevance of hereditary α-tryptasemia in patients with systemic mastocytosis.

Sordi B, Vanderwert F, Crupi F, et al.

The Journal of allergy and clinical immunology 2023; (151(2)):485-493.e11 doi:10.1016/j.jaci.2022.09.038.

Successful treatment with Omalizumab of a child affected by Systemic Mastocytosis: clinical and biological implications.

Bossi G, Brazzelli V, De Amici M, et al.

Italian journal of pediatrics 2023; (49(1)):6 doi:10.1186/s13052-022-01402-7.

Delayed Diagnosis of Indolent Systemic Mastocytosis as the Cause of Unexplained Skin Rash: A Case Report.

Alshurafa A, Abu-Tineh M, Ibrahim FA, et al.

Case reports in oncology 2023; (16(1)):62-68 doi:10.1159/000529347.

Myosin Light-Chain Kinase Inhibition Potentiates the Antitumor Effects of Avapritinib in PDGFRA D842V-Mutant Gastrointestinal Stromal Tumor.

Rossi F, Liu M, Tieniber A, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2023; (29(11)):2144-2157 doi:10.1158/1078-0432.CCR-22-0533.

Indolent systemic mastocytosis and aleukemic mast cell leukemia: Subtle diagnostic differences with distinct management approaches.

Paiva ML, Yumeen S, Saliba E, DiMarco C

JAAD case reports 2023; (36()):63-66 doi:10.1016/j.jdcr.2023.04.009.

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.

Management of Advanced Systemic Mastocytosis and Associated Myeloid Neoplasms.

Tashi T, Deininger MW

Immunology and allergy clinics of North America 2023; (43(4)):723-741 doi:10.1016/j.iac.2023.04.009.

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.

Tumor necrosis factor α promotes clonal dominance of KIT D816V+ cells in mastocytosis: role of survivin and impact on prognosis.

Greiner G, Witzeneder N, Klein K, et al.

Blood 2024; (143(11)):1006-1017 doi:10.1182/blood.2023020515.

Avapritinib versus Placebo in Indolent Systemic Mastocytosis.

Gotlib J, Castells M, Elberink HO, et al.

NEJM evidence 2023; (2(6)):EVIDoa2200339 doi:10.1056/EVIDoa2200339.

Comparison between indolent systemic mastocytosis and clonal mast cell disease not meeting WHO diagnostic criteria: A nationwide multicenter retrospective analysis.

Sciumè M, Serpenti F, Zanotti R, et al.

Hematological oncology 2024; (42(3)):e3277 doi:10.1002/hon.3277.

NCCN Guidelines® Insights: Systemic Mastocytosis, Version 3.2024.

Gotlib J, Gerds AT, Abdelmessieh P, et al.

Journal of the National Comprehensive Cancer Network : JNCCN 2024; (22(2 D)).

SOHO State of the Art Update and Next Questions: Current and Emerging Therapies for Systemic Mastocytosis.

Chifotides HT, Bose P

Clinical lymphoma, myeloma & leukemia 2025; (25(1)):1-12 doi:10.1016/j.clml.2024.06.005.

Diarrhea-predominant irritable bowel syndrome as a masquerade for systemic mastocytosis: review article and illustrating case report.

Aljabry M

Archives of medical science : AMS 2024; (20(4)):1063-1068 doi:10.5114/aoms/176943.

Lifetime Disability-Adjusted Life-Year Assessment of Indolent Systemic Mastocytosis.

Mounié M, Burel HD, Molinier L, et al.

The journal of allergy and clinical immunology. In practice 2025; (13(4)):923-929 doi:10.1016/j.jaip.2024.12.034.

Management of indolent mastocytosis and mast cell activation syndrome: A clinical yardstick.

Akin C, Butterfield JH, Castells M, Lyons JJ

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2025; (135(4)):466-477 doi:10.1016/j.anai.2025.06.032.

Novel KIT mutation, D816_N819delinsll, in a patient with systemic mastocytosis: a case report.

Juratli HA, Wassmer H, Juskevicius D, et al.

Virchows Archiv : an international journal of pathology 2025; doi:10.1007/s00428-025-04237-9.

French guidelines for the management of nonadvanced mastocytosis in adults.

Bulai Livideanu C, Barete S, Damaj G, et al.

Orphanet journal of rare diseases 2025; (20(1)):499 doi:10.1186/s13023-025-03764-7.

Diagnosing Systemic Mastocytosis: State of the Art.

Rets A, George TI

International journal of laboratory hematology 2025; doi:10.1111/ijlh.70011.

Management of Mastocytosis and Mast Cell Activation in Children.

Carter MC, Lange M, Alvarez-Twose I, et al.

The journal of allergy and clinical immunology. In practice 2026; (14(1)):30-42 doi:10.1016/j.jaip.2025.11.016.

Correlates of organ damage in patients with advanced systemic mastocytosis enrolled in clinical trials of avapritinib.

Liang EC, Perkins C, Lu R, et al.

Blood neoplasia 2025; (2(4)):100127 doi:10.1016/j.bneo.2025.100127.