Red Espanola de Mastocitosis REMA

Toledo, Spain

Red Espanola de Mastocitosis REMA

Toledo, Spain
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Alvarez-Twose I.,Hospital Virgen del Valle | Morgado J.M.,Hospital Virgen del Valle | Sanchez-Munoz L.,Hospital Virgen del Valle | Garcia-Montero A.,Red Espanola de Mastocitosis REMA | And 6 more authors.
International Journal of Laboratory Hematology | Year: 2012

Mastocytosis comprises a heterogeneous group of disorders characterized by the presence of clonal mast cells (MC) in organs such as skin, bone marrow (BM), and gastrointestinal tract, among other tissues. The clonal nature of the disease can be established in most adult patients by the demonstration of activating KIT mutations in their BM MC. When highly sensitive techniques capable of identifying cells present at very low frequencies in a sample are applied, BM MC from virtually all systemic mastocytosis patients display unique immunophenotypical features, particularly the aberrant expression of CD25. By contrast, large, multifocal BM MC aggregates (the only World Health Organization major criterion for systemic mastocytosis) are absent in a significant proportion of patients fulfilling at least three minor criteria for systemic mastocytosis, particularly in subjects studied at early stages of the disease with very low MC burden. Moreover, recent molecular and immunophenotypical investigations of BM MC from patients with indolent systemic mastocytosis have revealed a close association of some biological features (e.g., multilineage involvement of hematopoiesis by the KIT mutation and an immature mast cell immunophenotype) with an increased risk for disease progression. These observations support the fact that, although the current consensus diagnostic criteria for systemic mastocytosis have been a major advance for the diagnosis and classification of the disease, rationale usage of the most sensitive diagnostic techniques available nowadays is needed to improve the diagnosis, refine the classification, and reach objective prognostic stratification of adult mastocytosis. © 2012 Blackwell Publishing Ltd.

Torrelo A.,Hospital Del Nino Jesus | Alvarez-Twose I.,Hospital Virgen Del Valle | Escribano L.,Red Espanola de Mastocitosis REMA
Current Opinion in Pediatrics | Year: 2012

PURPOSE OF REVIEW: Important advances have been achieved in recent years in adult mastocytosis. However, our knowledge about childhood mastocytosis is limited because invasive tests are not routinely performed in children. We ignore the frequency of systemic involvement in childhood mastocytosis, its outcome, and which are the main clinical and laboratory parameters associated with persistence into adult mastocytosis and its severity. RECENT FINDINGS: Childhood mastocytosis is a clonal mast cell disease, with different activating mutations in the KIT gene discovered in most patients. Serum tryptase is the best marker for mast cell burden in children, and, at baseline, correlates well with the severity of symptoms in childhood mastocytosis. Systemic mastocytosis definitely may occur in children, but bone marrow studies to demonstrate a systemic involvement are not routinely performed nor recommended; it can be estimated that around 30% of children may have bone marrow involvement as demonstrated by showing aggregates of mast cells or by flow cytometry of mast cells expressing the aberrant CD25 marker. SUMMARY: A new and improved classification of childhood mastocytosis is needed, and should be based on the correlation of clinical manifestations, morphology of mast cells in the skin, and the predicted outcome of the disease. The current classifications of childhood mastocytosis do not address any of these important issues. © 2012 Wolters Kluwer Health | Lippincott Williams & Wilkins.

Gonzalez-De-Olano D.,Hospital Of Fuenlabrada | Alvarez-Twose I.,Red Espanola de Mastocitosis REMA | Alvarez-Twose I.,Hospital Virgen Del Valle | Morgado J.M.,Red Espanola de Mastocitosis REMA | And 15 more authors.
Cytometry Part B - Clinical Cytometry | Year: 2011

Background: Basophil activation tests (BATs) have been demonstrated to be useful in detecting IgE-mediated sensitization by measuring basophil activation surface markers (CD63 and CD203c). Hymenoptera venom is one of the best known mediators-release trigger in patients with systemic mastocytosis (SM). The aim of this study was to investigate the use of BATs as an additional diagnostic tool in patients with mastocytosis suffering from hymenoptera venom anaphylaxis (HVA). Methods: A total of 22 patients with history of HVA and SM, together with a group of 11 patients with HVA in whom SM was ruled out after a complete bone marrow study, were analyzed. Results: Among 11 SM patients who had specific serum IgE (sIgE) against hymenoptera venom and an evaluable BAT, a positive BAT was found in nine. Additionally, a positive BAT was detected in three of seven patients who had no sIgE. These three patients had low levels of total IgE compared with control population (mean of 20 vs. 78 IU/mL); one had discontinued immunotherapy after 5 years, when sIgE levels had turned negative, and, in the other two patients, BAT identified the culprit insect. Conclusions: BAT is a useful complementary diagnostic tool to sIgE in mastocytosis patients with HVA, and it may contribute to predict or confirm these nearly fatal reactions, especially before discontinuing venom immunotherapy in patients who are negative for skin tests or sIgE or display low total IgE levels; in such cases, it also provides evidence on the culprit insect prompting HVA. © 2010 International Clinical Cytometry Society.

Alvarez-Twose I.,Hospital Virgen Del Valle | Vano-Galvan S.,Hospital Ramon y Cajal | Sanchez-Munoz L.,Hospital Virgen Del Valle | Morgado J.M.,Hospital Virgen Del Valle | And 7 more authors.
Allergy: European Journal of Allergy and Clinical Immunology | Year: 2012

Background Despite the good prognosis of pediatric mastocytosis, some patients suffer from severe mast cell (MC) mediator-associated symptoms. The aim of this study was to identify predictors for severe MC mediator release symptoms in children with mastocytosis in the skin (MIS). Methods Serum baseline total tryptase (sbT) levels in 111 children with MIS - 80 maculopapular cutaneous mastocytosis/plaque mastocytosis, 22 nodular mastocytosis, and nine diffuse cutaneous mastocytosis - were investigated as a predictive biomarker for the occurrence of MC mediator-related signs and symptoms within the first 18 months after disease onset. Results Twelve children (11%) who showed extensive cutaneous disease involving >90% of body surface area (BSA) suffered from severe symptoms requiring hospitalization, with (n = 5) or without (n = 6) management in the intensive care unit (ICU) owing to life-threatening complications. The median sbT was significantly (P < 0.001) higher in patients with extensive cutaneous disease vs those with <90% of BSA involved (45.5 vs 5.2 μg/l, respectively), as well as in children with grade 4 (severe mastocytosis-related symptoms requiring emergency therapy and hospitalization) vs those with grade <4 (46.2 vs 5.2 μg/l, respectively). Receiver operating characteristics curve analyses showed that the optimal cutoff s for sbT to predict the need for daily antimediator therapy, hospitalization, and the management in an ICU were 6.6, 15.5, and 30.8 μg/l, respectively (sensitivity and specificity of 77% and 79%, 100% and 95%, and 100% and 96%, respectively). Conclusions Increased sbT in association with extensive cutaneous involvement identifies patients at risk for severe MC activation events in pediatric mastocytosis. © 2012 John Wiley & Sons A/S.

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