Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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Heidelberg University
Heidelberg, Germany
National Institutes of Health
Bethesda, United States
The University of Texas MD Anderson Cancer Center
Houston, United States
Mayo Clinic
Rochester, United States
Medical University of Vienna
Vienna, Austria
National Institute of Allergy and Infectious Diseases
Bethesda, United States
Gdańsk Medical University
Gdansk, Poland
Blueprint Medicines (United States)
Cambridge, United States
Hôpital Necker-Enfants Malades
Paris, France
Memorial Sloan Kettering Cancer Center
New York, United States
References
References (101)
- 1
A Case of Intestinal Mastocytosis Misdiagnosed as Crohn's Disease.
Reggiani S, Cosso L, Adriani A, et al.
Case reports in gastroenterology 2015; (9(2)):188-93 doi:10.1159/000430946.
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Morphologically occult systemic mastocytosis in bone marrow: clinicopathologic features and an algorithmic approach to diagnosis.
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Impact of centralized evaluation of bone marrow histology in systemic mastocytosis.
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Endocrine manifestations of systemic mastocytosis in bone.
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Reviews in endocrine & metabolic disorders 2016; (17(3)):419-431 doi:10.1007/s11154-016-9362-3.
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A distinct biomolecular profile identifies monoclonal mast cell disorders in patients with idiopathic anaphylaxis.
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Midostaurin treatment in FLT3-mutated acute myeloid leukemia and systemic mastocytosis.
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Multiple large osteolytic lesions in a patient with systemic mastocytosis: a challenging diagnosis.
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Midostaurin: A Multiple Tyrosine Kinases Inhibitor in Acute Myeloid Leukemia and Systemic Mastocytosis.
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FDA Approval Summary: Midostaurin for the Treatment of Advanced Systemic Mastocytosis.
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The oncologist 2018; (23(12)):1511-1519 doi:10.1634/theoncologist.2018-0222.
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Aggressive systemic mastocytosis of the liver with cholangitis.
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Hepatic oncology 2015; (2(4)):343-347 doi:10.2217/hep.15.33.
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Smoldering mastocytosis: Survival comparisons with indolent and aggressive mastocytosis.
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American journal of hematology 2019; (94(1)):E1-E2 doi:10.1002/ajh.25302.
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[Cutaneous mastocytosis - update and clinical guidelines].
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Systemic Mastocytosis, Version 2.2019, NCCN Clinical Practice Guidelines in Oncology.
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Journal of the National Comprehensive Cancer Network : JNCCN 2018; (16(12)):1500-1537 doi:10.6004/jnccn.2018.0088.
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[Surgical interventions in patients with systemic mast cell activation disease : Recommendations for perioperative management].
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Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen 2019; (90(7)):548-556 doi:10.1007/s00104-019-0935-z.
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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.
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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.
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Novel approaches to treating advanced systemic mastocytosis.
Gilreath JA, Tchertanov L, Deininger MW
Clinical pharmacology : advances and applications 2019; (11()):77-92 doi:10.2147/CPAA.S206615.
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Urticaria pigmentosa in monochorionic twins.
Yavuz GO, Yavuz IH, Bilgili SG, et al.
Indian journal of dermatology, venereology and leprology 2019; (85(5)):509-511 doi:10.4103/ijdvl.IJDVL_163_18.
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Efficacy of Omalizumab in Indolent Systemic Mastocytosis.
Slapnicar C, Trinkaus M, Hicks L, Vadas P
Case reports in hematology 2019; (2019()):3787586 doi:10.1155/2019/3787586.
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Evolution of myelodisplasic syndrome with ring sideroblasts (MDS-RS) to systemic mastocytosis and aleukemic mast cell leukemia.
Costa LD, Azambuja AP, Ângelo Lisboa ES, et al.
Hematology, transfusion and cell therapy 2020; (42(4)):387-389 doi:10.1016/j.htct.2019.08.003.
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KIT D816V and the cytokine storm in mastocytosis: production and role of interleukin-6.
Valent P
Haematologica 2020; (105(1)):5-6 doi:10.3324/haematol.2019.234864.
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[Cutaneous Manifestations in Mastocytosis: Update].
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Acta medica portuguesa 2020; (33(4)):275-281 doi:10.20344/amp.12189.
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Systemic mastocytosis associated with Hodgkin's lymphoma in a 4-year-old child.
Srinivas SM, Agarwal R, Babu N, et al.
Pediatric dermatology 2020; (37(4)):713-715 doi:10.1111/pde.14183.
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Mast Cell Activation Syndrome: A Primer for the Gastroenterologist.
Weinstock LB, Pace LA, Rezaie A, et al.
Digestive diseases and sciences 2021; (66(4)):965-982 doi:10.1007/s10620-020-06264-9.
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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.
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Systemic Mastocytosis: A Rare Cause of Diarrhea.
Hamera L, Santos AM, Prince SA, et al.
Cureus 2020; (12(7)):e9112 doi:10.7759/cureus.9112.
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[Tryptase: A practical guide for the physician].
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La Revue de medecine interne 2020; (41(11)):748-755 doi:10.1016/j.revmed.2020.06.006.
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Heritable risk for severe anaphylaxis associated with increased α-tryptase-encoding germline copy number at TPSAB1.
Lyons JJ, Chovanec J, O'Connell MP, et al.
The Journal of allergy and clinical immunology 2021; (147(2)):622-632 doi:10.1016/j.jaci.2020.06.035.
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Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.
Greiner G, Sprinzl B, Górska A, et al.
Blood 2021; (137(2)):238-247 doi:10.1182/blood.2020006157.
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Cutaneous mastocytosis: A dermatological perspective.
Di Raimondo C, Del Duca E, Silvaggio D, et al.
The Australasian journal of dermatology 2021; (62(1)):e1-e7 doi:10.1111/ajd.13443.
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Pediatric maculopapular cutaneous mastocytosis: Retrospective review of signs, symptoms, and associated conditions.
Gurnee EA, Johansen ML, Phung TL, et al.
Pediatric dermatology 2021; (38(1)):159-163 doi:10.1111/pde.14399.
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Clinical Impact of Inherited and Acquired Genetic Variants in Mastocytosis.
Nedoszytko B, Arock M, Lyons JJ, et al.
International journal of molecular sciences 2021; (22(1)) doi:10.3390/ijms22010411.
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Clinical Impact of Skin Lesions in Mastocytosis: A Multicenter Study of the European Competence Network on Mastocytosis.
Aberer E, Sperr WR, Bretterklieber A, et al.
The Journal of investigative dermatology 2021; (141(7)):1719-1727 doi:10.1016/j.jid.2020.12.030.
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Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.
Lange M, Hartmann K, Carter MC, et al.
International journal of molecular sciences 2021; (22(5)) doi:10.3390/ijms22052586.
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Natural evolution in pediatric cutaneous mastocytosis: 10-year follow-up.
Czarny J, Renke J, Żawrocki A, et al.
International journal of dermatology 2021; (60(10)):1253-1257 doi:10.1111/ijd.15542.
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Medical algorithm: Peri-operative management of mastocytosis patients.
Bocca-Tjeertes IFA, van de Ven AAJM, Koppelman GH, et al.
Allergy 2021; (76(10)):3233-3235 doi:10.1111/all.14891.
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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.
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Osteoporosis Caused by Systemic Mastocytosis: Prevalence in a Cohort of 8392 Patients with Osteoporosis.
Gehlen M, Schmidt N, Pfeifer M, et al.
Calcified tissue international 2021; (109(6)):685-695 doi:10.1007/s00223-021-00887-4.
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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.
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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.
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Association of systemic mastocytosis with primary cutaneous marginal zone lymphoma; first case.
Günay MB, Büyükbabani N, Yavuz AS, et al.
Journal of the European Academy of Dermatology and Venereology : JEADV 2022; (36(4)):e275-e276 doi:10.1111/jdv.17797.
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Pediatric Mastocytosis: An Update.
Giona F
Mediterranean journal of hematology and infectious diseases 2021; (13(1)):e2021069 doi:10.4084/MJHID.2021.069.
PMID: 34804443 - 47
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.
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Updated Diagnostic Criteria and Classification of Mast Cell Disorders: A Consensus Proposal.
Valent P, Akin C, Hartmann K, et al.
HemaSphere 2021; (5(11)):e646 doi:10.1097/HS9.0000000000000646.
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Cutaneous mastocytosis in childhood.
Nemat K, Abraham S
Allergologie select 2022; (6()):1-10 doi:10.5414/ALX02304E.
PMID: 35028497 - 50
Indirect treatment comparisons of avapritinib versus midostaurin for patients with advanced systemic mastocytosis.
Pilkington H, Smith S, Roskell N, Iannazzo S
Future oncology (London, England) 2022; (18(13)):1583-1594 doi:10.2217/fon-2021-1509.
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Role and significance of c-KIT receptor tyrosine kinase in cancer: A review.
Sheikh E, Tran T, Vranic S, et al.
Bosnian journal of basic medical sciences 2022; (22(5)):683-698 doi:10.17305/bjbms.2021.7399.
PMID: 35490363 - 52
Treatment of Indolent and Advanced Systemic Mastocytosis.
Buonomo A, Nucera E, Criscuolo M
Mediterranean journal of hematology and infectious diseases 2022; (14(1)):e2022040 doi:10.4084/MJHID.2022.040.
PMID: 35615325 - 53
Mast cell activation syndrome-anesthetic challenges in two different clinical scenarios.
Lide B, Mcguire S, Liu H, Chandler C
Journal of biomedical research 2022; (36(6)):435-439 doi:10.7555/JBR.36.20220071.
PMID: 35660674 - 54
Drugs and Vaccines Hypersensitivity in Children with Mastocytosis.
Mori F, Crisafulli G, Bianchi A, et al.
Journal of clinical medicine 2022; (11(11)) doi:10.3390/jcm11113153.
PMID: 35683540 - 55
Target Therapies for Systemic Mastocytosis: An Update.
Sciumè M, De Magistris C, Galli N, et al.
Pharmaceuticals (Basel, Switzerland) 2022; (15(6)) doi:10.3390/ph15060738.
PMID: 35745657 - 56
Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.
Hwang SM, Kim BJ, Lee JS, et al.
Annals of laboratory medicine 2022; (42(6)):678-682 doi:10.3343/alm.2022.42.6.678.
PMID: 35765876 - 57
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.
PMID: 35884535 - 58
Not quite "mast"ered: Patients and providers report limitations in the management of systemic mastocytosis.
Curtis C, Vaughn JE
Cancer 2022; (128(20)):3599-3601 doi:10.1002/cncr.34416.
PMID: 35996860 - 59
Patient-reported outcomes among patients with systemic mastocytosis in routine clinical practice: Results of the TouchStone SM Patient Survey.
Mesa RA, Sullivan EM, Dubinski D, et al.
Cancer 2022; (128(20)):3691-3699 doi:10.1002/cncr.34420.
PMID: 35996873 - 60
The international consensus classification of mastocytosis and related entities.
Leguit RJ, Wang SA, George TI, et al.
Virchows Archiv : an international journal of pathology 2023; (482(1)):99-112 doi:10.1007/s00428-022-03423-3.
PMID: 36214901 - 61
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.
PMID: 36259506 - 62
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.
PMID: 36309122 - 63
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.
PMID: 36639823 - 64
Comprehensive mastocytosis data analysis from a single center.
Tiryaki TO, Özkan SG, Erdem S, et al.
BMC cancer 2023; (23(1)):82 doi:10.1186/s12885-022-10498-3.
PMID: 36694141 - 65
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.
PMID: 36785740 - 66
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.
PMID: 36980550 - 67
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.
PMID: 37012462 - 68
Hereditary alpha-tryptasemia and complete deletion of exon 8 of the c-kit gene in patients with mast cell activation syndrome.
Jiang M, Vadas P
Leukemia & lymphoma 2023; (64(7)):1348-1351 doi:10.1080/10428194.2023.2203286.
PMID: 37086476 - 69
Childhood Cutaneous Mastocytosis: Revisited.
Swarnkar B, Sarkar R
Indian journal of dermatology 2023; (68(1)):121 doi:10.4103/ijd.ijd_264_22.
PMID: 37151240 - 70
Skin and bones: systemic mastocytosis and bone.
Wang M, Seibel MJ
Endocrinology, diabetes & metabolism case reports 2023; (2023(2)).
PMID: 37166908 - 71
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.
PMID: 37250010 - 72
The international consensus classification of eosinophilic disorders and systemic mastocytosis.
Wang SA, Orazi A, Gotlib J, et al.
American journal of hematology 2023; (98(8)):1286-1306 doi:10.1002/ajh.26966.
PMID: 37283522 - 73
c-Kit signaling potentiates CAR T cell efficacy in solid tumors by CD28- and IL-2-independent co-stimulation.
Xiong Y, Taleb M, Misawa K, et al.
Nature cancer 2023; (4(7)):1001-1015 doi:10.1038/s43018-023-00573-4.
PMID: 37336986 - 74
Increased TIM-3 and galectin-9 serum levels in patients with advanced systemic mastocytosis.
Konantz M, Williams M, Merkel T, et al.
The Journal of allergy and clinical immunology 2023; (152(4)):1019-1024 doi:10.1016/j.jaci.2023.07.001.
PMID: 37423405 - 75
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.
PMID: 37758404 - 76
Gastrointestinal Disease in Mastocytosis.
Hamilton MJ
Immunology and allergy clinics of North America 2023; (43(4)):711-722 doi:10.1016/j.iac.2023.04.005.
PMID: 37758408 - 77
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.
PMID: 37758409 - 78
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.
PMID: 37772442 - 79
Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals.
González-de-Olano D, Navarro-Navarro P, Muñoz-González JI, et al.
Allergy 2024; (79(3)):711-723 doi:10.1111/all.15911.
PMID: 37818990 - 80
Current Challenges in the Diagnosis of Pediatric Cutaneous Mastocytosis.
Ługowska-Umer H, Czarny J, Rydz A, et al.
Diagnostics (Basel, Switzerland) 2023; (13(23)) doi:10.3390/diagnostics13233583.
PMID: 38066824 - 81
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.
PMID: 38067330 - 82
Epidemiology of mastocytosis: a population-based study (Sweden).
Bergström A, Hägglund H, Berglund A, et al.
Acta oncologica (Stockholm, Sweden) 2024; (63()):44-50 doi:10.2340/1651-226X.2024.31406.
PMID: 38380845 - 83
Prevalence of hypersensitivity reactions in various forms of mastocytosis: A pilot study of 2485 adult patients with mastocytosis collected in the ECNM registry.
Niedoszytko M, Gorska A, Brockow K, et al.
Allergy 2024; (79(9)):2470-2481 doi:10.1111/all.16132.
PMID: 38651829 - 84
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)).
PMID: 38862005 - 85
Beyond Midostaurin: Role of Avapritinib in Managing Systemic Mastocytosis.
Pokima N, Khattar G, Keesari PR, et al.
Cureus 2024; (16(5)):e60161 doi:10.7759/cureus.60161.
PMID: 38868249 - 86
Indolent systemic mastocytosis (ISM) without skin lesions as a recurrent anaphylaxis: a case report study.
Ghelichi-Ghojogh M, Ebrahimi M, Ghezeljeh E, et al.
Annals of medicine and surgery (2012) 2024; (86(10)):6179-6181 doi:10.1097/MS9.0000000000002472.
PMID: 39359771 - 87
Prevalence and incidence of mastocytosis in adults: a Danish nationwide register study.
Jørgensen MP, Øvlisen AK, Jensen JF, et al.
European journal of epidemiology 2025; (40(1)):43-53 doi:10.1007/s10654-024-01195-5.
PMID: 39751701 - 88
High-sensitivity KIT D816V variation analysis by droplet digital polymerase chain reaction: The reference laboratory perspective.
Shean RC, Hellwig S, Saadalla A, et al.
American journal of clinical pathology 2025; (164(2)):145-149 doi:10.1093/ajcp/aqaf008.
PMID: 40036308 - 89
Cutaneous mastocytosis: diagnostic challenges and dietary influences.
Al-Soufi L, Marashli A, HajBakri RC, Al-Shehabi Z
Dermatology reports 2025; (17(2)) doi:10.4081/dr.2024.10143.
PMID: 40420700 - 90
Utility of tryptase genotyping in the screening, diagnosis, and management of systemic mastocytosis.
McMurray JC, Schornack BJ, Villar J, et al.
Frontiers in allergy 2025; (6()):1599358 doi:10.3389/falgy.2025.1599358.
PMID: 40497258 - 91
Patient-Reported Outcomes and Provider Perceptions of Systemic Mastocytosis: Results From the PRISM Study.
Triggiani M, Hobart J, Alvarez-Twose I, et al.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2025; (55(9)):784-794 doi:10.1111/cea.70101.
PMID: 40579689 - 92
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.
PMID: 40607735 - 93
Avapritinib versus midostaurin or cladribine in advanced systemic mastocytosis: A retrospective real-world external control study.
Reiter A, Gotlib J, Álvarez-Twose I, et al.
Leukemia research 2025; (157()):107919 doi:10.1016/j.leukres.2025.107919.
PMID: 40712393 - 94
Impact of Molecular Evaluations in the Biology, Diagnosis, and Prognostication of Patients With Mastocytosis.
Hoermann G, Orfao A, Lyons JJ, et al.
The journal of allergy and clinical immunology. In practice 2026; (14(1)):1-16 doi:10.1016/j.jaip.2025.07.055.
PMID: 40846032 - 95
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.
PMID: 40892237 - 96
Aggressive Systemic Mastocytosis Presenting as Pyrexia of Unknown Origin and Sclerotic Bone Lesions: An Uncommon Presentation of a Rare Haematological Disorder.
Ismail U, Fatima SA
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Updates on Kinase Inhibitors in Allergy.
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Key Pediatric Dermatologic Conditions: A Clinical Review: Part I.
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