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

2017Journal article Open access
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dc.contributor.authorFernandes, I.
dc.contributor.authorSampaio, R.
dc.contributor.authorMoreno, F.
dc.contributor.authorPalla-Garcia, J.
dc.contributor.authorTeixeira, M.
dc.contributor.authorFreitas, I.
dc.contributor.authorNeves, E.
dc.contributor.authorJara-Acevedo, M.
dc.contributor.authorEscribano, L.
dc.contributor.authorLima, M.
dc.date.accessioned2017-08-29T09:32:14Z
dc.date.available2017-08-29T09:32:14Z
dc.date.issued2017
dc.description.abstractBACKGROUND: Mastocytosis 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 PRESENTATION: A 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. CONCLUSIONS: To 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAllergy Asthma Clin Immunol. 2017 Apr 24;13:21pt_PT
dc.identifier.doi10.1186/s13223-017-0193-xpt_PT
dc.identifier.issn1710-1484
dc.identifier.issn1710-1492
dc.identifier.urihttp://hdl.handle.net/10400.16/2165
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBioMed Centralpt_PT
dc.relation.publisherversionhttps://aacijournal.biomedcentral.com/articles/10.1186/s13223-017-0193-xpt_PT
dc.subjectDisodium cromoglycatept_PT
dc.subjectKIT V560G mutationpt_PT
dc.subjectMast cell activation disorderspt_PT
dc.subjectMast cellspt_PT
dc.subjectRecurrent anaphylaxispt_PT
dc.subjectSystemic mastocytosispt_PT
dc.titleSystemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcomept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceEnglandpt_PT
oaire.citation.issue1pt_PT
oaire.citation.startPage21pt_PT
oaire.citation.titleAllergy, Asthma and Clinical Immunologypt_PT
oaire.citation.volume13pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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