Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes

González-de-Olano, David; Matito, Almudena; Órfão, Alberto; Escribano, Luís

doi:10.12688/f1000research.9565.1

Cited by 20 publications

(13 citation statements)

References 120 publications

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“…Moreover, oral and inhaled DSCG have been used in the management of other symptoms associated with SM, such as of bone pain, headache and fatigue, and hypotensive crisis [ 45 , 46 ]. Despite the low level of evidence found in the literature, DSCG is one of the mainstays in the symptomatic treatment of SM, being recommended by the experts from centers where a large number of patients with mastocytosis are followed, to alleviate gastrointestinal, cutaneous, neuropsychiatric, skeletal and other systemic disease related symptoms [ 47 – 49 ].…”

Section: Discussionmentioning

confidence: 99%

Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome

Conde-Fernandes¹,

Sampaio²,

Moreno³

et al. 2017

Allergy Asthma Clin Immunol

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BackgroundMastocytosis are rare diseases characterized by an accumulation of clonal mast cells (MCs) in one or multiple organs or tissues. Patients with systemic mastocytosis (SM), whose MCs frequently arbor the activating D816V KIT mutation, may have indolent to aggressive diseases, and they may experience MC mediator related symptoms. Indolent SM with recurrent anaphylaxis or vascular collapse in the absence of skin lesions, ISMs(−), is a specific subtype indolent SM (ISM), and this clonal MC activation disorder represents a significant fraction of all MC activation syndromes. The V560G KIT mutation is extremely rare in patients with SM and its biological and prognostic impact remains unknown.Case presentationA 15-year old boy was referred to our hospital because of repeated episodes of flushing, hypotension and syncope since the age of 3-years, preceded by skin lesions compatible with mastocytosis on histopathology that had disappeared in the late-early childhood. Diagnosis of ISM, more precisely the ISMs(−) variant, was confirmed based on the clinical manifestations together with increased baseline serum tryptase levels and the presence of morphologically atypical, mature appearing (CD117+high, FcεRI+) phenotypically aberrant (CD2+, CD25+) MCs, expressing activation-associated markers (CD63, CD69), in the bone marrow. Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed.ConclusionsTo the best of our knowledge this first report of a patient with ISM, whose bone marrow MCs carry the KIT V560G activating mutation, manifesting as recurrent spontaneous episodes of flushing and vascular collapse in the absence of skin lesions at the time of diagnosis, in whom disodium cromoglycate had led to long term clinical remission.

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Section: Discussionmentioning

confidence: 99%

Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome

Conde-Fernandes¹,

Sampaio²,

Moreno³

et al. 2017

Allergy Asthma Clin Immunol

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“…39 The REMA score can help to identify, with a 90% predictive value, patients with a clonal mast cell disorder when at least 2 criteria are met. 59 Efficacy is potentially lower with relapses after stopping VIT. Lifelong therapy is recommended in patients with mastocytosis.…”

Section: At-risk Populationsmentioning

confidence: 99%

<p>Clinical Utility of Rush Venom Immunotherapy: Current Status</p>

Gruzelle¹,

Mailhol²,

Waters³

et al. 2020

JAA

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Hymenoptera venom allergy (HVA) is the leading cause of anaphylactic reactions in adults and the second most common cause in children. Venom immunotherapy (VIT) is used to elicit an immune tolerance against hymenoptera venom in allergic patients and is based on the administration of purified venom extracts regularly for defined periods. The protocols of administration include 2 phases: an up-dosing phase that incrementally reaches the final dose resulting in a protective effect, and a maintenance phase in order to obtain the sustained effect. The goal of this review is to detail the efficacy and the safety of the updosing phase also named rush. Pathophysiological mechanisms, indications of VIT and technical aspects of up-dosing protocol are also covered.

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“…Long‐term use is limited by the lack of long‐term efficacy and secondary effects, such as low bone density, which may be compounded in SM patients due to a pre‐existing susceptibility for osteoporosis development (Rossini et al , ). Omalizumab, a monoclonal antibody that binds IgE, should be considered for use in select patients with severe symptoms that have proven unresponsive to leukotriene antagonists or cromolyn (Siebenhaar et al , ; Gonzalez‐de‐Olano et al , ). Individuals with low bone density should be given calcium and vitamin D and be considered for bisphosphonate treatment as per standard guidelines.…”

Section: Treatment Of Indolent Smmentioning

confidence: 99%

How we diagnose and treat systemic mastocytosis in adults

Scherber

Borate

2017

Br J Haematol

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Summary Rapid advances in the understanding of the molecular biology, data from translational and clinical trials, and retrospective analyses has influenced the diagnosis and treatment of systemic mastocytosis (SM). Many options have existed for the symptomatic management of SM patients, but recent evolution in regards to the molecular underpinnings of this disease and our ability to distinguish clonal mastocytosis from mast cell activation syndrome has changed our treatment paradigm and opened new opportunities for understanding genetic risk, transformation to mast cell leukaemia, and treatment choices. Key to this change has been the discovery of the KIT mutation and the use of next generation sequencing to evaluate for co‐existing molecular mutations that may define the disease course. Careful diagnosis, judicious symptom management and close surveillance of those who may have yet undiagnosed disease is paramount in providing optimal management. In this article, we review the diagnosis and provide a paradigm for the management of SM patients.

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Advances in the understanding and clinical management of mastocytosis and clonal mast cell activation syndromes

Cited by 20 publications

References 120 publications

Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome

Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome

<p>Clinical Utility of Rush Venom Immunotherapy: Current Status</p>

How we diagnose and treat systemic mastocytosis in adults

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