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MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC

MedGen UID:
1669081
•Concept ID:
C4749139
•
Disease or Syndrome
OMIM®: 164920

Professional guidelines

PubMed

Systemic Mastocytosis: Advances in Diagnosis and Current Management.
Pullarkat ST, Wu W, Pullarkat V
Cancer Treat Res 2021;181:167-178. doi: 10.1007/978-3-030-78311-2_10. PMID: 34626361
Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021.
Lange M, Hartmann K, Carter MC, Siebenhaar F, Alvarez-Twose I, Torrado I, Brockow K, Renke J, Irga-Jaworska N, Plata-Nazar K, Ługowska-Umer H, Czarny J, Belloni Fortina A, Caroppo F, Nowicki RJ, Nedoszytko B, Niedoszytko M, Valent P
Int J Mol Sci 2021 Mar 4;22(5) doi: 10.3390/ijms22052586. PMID: 33806685Free PMC Article
New insights into the pathogenesis, diagnosis, and management of mastocytosis.
Fuller SJ
Hematol Oncol Clin North Am 2012 Dec;26(6):1143-68. Epub 2012 Oct 9 doi: 10.1016/j.hoc.2012.08.008. PMID: 23116574

Recent clinical studies

Etiology

New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches.
Valent P, Akin C, Gleixner KV, Sperr WR, Reiter A, Arock M, Triggiani M
Int J Mol Sci 2019 Jun 18;20(12) doi: 10.3390/ijms20122976. PMID: 31216696Free PMC Article
Telangiectasia macularis eruptiva perstans: a neglected type of mastocytosis with exclusively cutaneous involvement? A case series.
Michelerio A, Grassi S, Elena C, Croci GA, Boveri E, Bossi G, Brazzelli V
Eur J Dermatol 2019 Apr 1;29(2):174-178. doi: 10.1684/ejd.2019.3532. PMID: 30973331
Update on Mastocytosis (Part 1): Pathophysiology, Clinical Features, and Diagnosis.
Azaña JM, Torrelo A, Matito A
Actas Dermosifiliogr 2016 Jan-Feb;107(1):5-14. Epub 2015 Nov 3 doi: 10.1016/j.ad.2015.09.007. PMID: 26546030
Mastocytosis: a rare case of anaphylaxis in paediatric age and literature review.
Silva I, Carvalho S, Pinto PL, Machado S, Rosado Pinto J
Allergol Immunopathol (Madr) 2008 May-Jun;36(3):154-63. PMID: 18680704

Diagnosis

New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Mastocytosis and related entities: a practical roadmap.
Beyens M, Elst J, van der Poorten ML, Van Gasse A, Toscano A, Verlinden A, Vermeulen K, Maes MB, Oude Elberink JNGH, Ebo D, Sabato V
Acta Clin Belg 2023 Aug;78(4):325-335. Epub 2022 Oct 19 doi: 10.1080/17843286.2022.2137631. PMID: 36259506
Precision Medicine in Systemic Mastocytosis.
Nicolosi M, Patriarca A, Andorno A, Mahmoud AM, Gennari A, Boldorini R, Gaidano G, Crisà E
Medicina (Kaunas) 2021 Oct 20;57(11) doi: 10.3390/medicina57111135. PMID: 34833353Free PMC Article
Systemic Mastocytosis: Advances in Diagnosis and Current Management.
Pullarkat ST, Wu W, Pullarkat V
Cancer Treat Res 2021;181:167-178. doi: 10.1007/978-3-030-78311-2_10. PMID: 34626361
Update on Mastocytosis (Part 1): Pathophysiology, Clinical Features, and Diagnosis.
Azaña JM, Torrelo A, Matito A
Actas Dermosifiliogr 2016 Jan-Feb;107(1):5-14. Epub 2015 Nov 3 doi: 10.1016/j.ad.2015.09.007. PMID: 26546030

Therapy

Mastocytosis: a rare case of anaphylaxis in paediatric age and literature review.
Silva I, Carvalho S, Pinto PL, Machado S, Rosado Pinto J
Allergol Immunopathol (Madr) 2008 May-Jun;36(3):154-63. PMID: 18680704
Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation.
Hoffmann KM, Moser A, Lohse P, Winkler A, Binder B, Sovinz P, Lackner H, Schwinger W, Benesch M, Urban C
Blood 2008 Sep 1;112(5):1655-7. Epub 2008 Jun 20 doi: 10.1182/blood-2008-03-147785. PMID: 18567837

Prognosis

New Insights into the Pathogenesis of Mastocytosis: Emerging Concepts in Diagnosis and Therapy.
Valent P, Akin C, Sperr WR, Horny HP, Arock M, Metcalfe DD, Galli SJ
Annu Rev Pathol 2023 Jan 24;18:361-386. Epub 2022 Oct 21 doi: 10.1146/annurev-pathmechdis-031521-042618. PMID: 36270293
Precision Medicine in Systemic Mastocytosis.
Nicolosi M, Patriarca A, Andorno A, Mahmoud AM, Gennari A, Boldorini R, Gaidano G, Crisà E
Medicina (Kaunas) 2021 Oct 20;57(11) doi: 10.3390/medicina57111135. PMID: 34833353Free PMC Article
Multidisciplinary Challenges in Mastocytosis and How to Address with Personalized Medicine Approaches.
Valent P, Akin C, Gleixner KV, Sperr WR, Reiter A, Arock M, Triggiani M
Int J Mol Sci 2019 Jun 18;20(12) doi: 10.3390/ijms20122976. PMID: 31216696Free PMC Article
Mast cell disorders: From infancy to maturity.
Wilcock A, Bahri R, Bulfone-Paus S, Arkwright PD
Allergy 2019 Jan;74(1):53-63. Epub 2018 Nov 28 doi: 10.1111/all.13657. PMID: 30390314
Mastocytosis: from a Molecular Point of View.
Komi DEA, Rambasek T, Wöhrl S
Clin Rev Allergy Immunol 2018 Jun;54(3):397-411. doi: 10.1007/s12016-017-8619-2. PMID: 28725969Free PMC Article

Clinical prediction guides

Personalized Management Strategies in Mast Cell Disorders: ECNM-AIM User's Guide for Daily Clinical Practice.
Valent P, Hartmann K, Schwaab J, Alvarez-Twose I, Brockow K, Bonadonna P, Hermine O, Niedoszytko M, Carter MC, Hoermann G, Sperr WR, Butterfield JH, Ustun C, Zanotti R, Radia DH, Castells M, Triggiani M, Schwartz LB, Orfao A, George TI, Sotlar K, Gotlib J, Reiter A, Horny HP, Arock M, Akin C, Metcalfe DD
J Allergy Clin Immunol Pract 2022 Aug;10(8):1999-2012.e6. Epub 2022 Mar 25 doi: 10.1016/j.jaip.2022.03.007. PMID: 35342031

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