Immunophenotypic Characterization of Bone Marrow Mast Cells in Mastocytosis and Other Mast Cell Disorders

Sánchez‐Muñoz, Laura; Teodósio, Cristina; Morgado, José Mário; Escribano, Luís

doi:10.1016/b978-0-12-385493-3.00014-0

Cited by 38 publications

(52 citation statements)

References 89 publications

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“…In every case, a complete BM study was performed strictly following recently proposed criteria [2,9,10 ]includingimmunophenotypical analysis of BM MC [11,12], detection of somatic activating exon 17 KIT mutations [13] and the pattern of inactivation of chromosome X in FACS-purified BM MC from 6 female patients lacking KIT mutations by the HUMARA assay [14]. …”

Section: Methodsmentioning

confidence: 99%

Validation of the REMA Score for Predicting Mast Cell Clonality and Systemic Mastocytosis in Patients with Systemic Mast Cell Activation Symptoms

Álvarez‐Twose¹,

González-de-Olano²,

Sánchez‐Muñoz³

et al. 2011

Int Arch Allergy Immunol

139

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Background: A variable percentage of patients with systemic mast cell (MC) activation symptoms meet criteria for systemic mastocytosis (SM). We prospectively evaluated the clinical utility of the REMA score versus serum baseline tryptase (sBt) levels for predicting MC clonality and SM in 158 patients with systemic MC activation symptoms in the absence of mastocytosis in the skin (MIS). Methods: World Health Organization criteria for SM were applied in all cases. MC clonality was defined as the presence of KIT-mutated MC or by a clonal HUMARA test. The REMA score consisted of the assignment of positive or negative points as follows: male (+1), female (–1), sBt <15 µg/l (–1) or >25 µg/l (+2), presence (–2) or absence (+1) of pruritus, hives or angioedema and presence (+3) of presyncope or syncope. Efficiency of the REMA score for predicting MC clonality and SM was assessed by receiver operating characteristic (ROC) curve analyses and compared to those obtained by means of sBt levels alone. Results: Molecular studies revealed the presence of clonal MC in 68/80 SM cases and in 11/78 patients who did not meet the criteria for SM. ROC curve analyses confirmed the greater sensitivity and a similar specificity of the REMA score versus sBt levels (84 vs. 59% and 74 vs. 70% for MC clonality and 87 vs. 62% and 73 vs. 71% for SM, respectively). Conclusions: Our results confirm the clinical utility of the REMA score to predict MC clonality and SM in patients suffering from systemic MC activation symptoms without MIS.

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Section: Methodsmentioning

confidence: 99%

Validation of the REMA Score for Predicting Mast Cell Clonality and Systemic Mastocytosis in Patients with Systemic Mast Cell Activation Symptoms

Álvarez‐Twose¹,

González-de-Olano²,

Sánchez‐Muñoz³

et al. 2011

Int Arch Allergy Immunol

139

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“…Иммунофенотипирование с помо-щью проточной цитометрии обеспечивает точную диагностику гематологических расстройств [27][28][29][30][31]. Нормальные и реактив-ные ТК в КМ характеризуются экспрессией CD117, CD45, CD63, CD203c, FcRIe и цитоплазматической триптазы (CyB12) и отсут-ствием антигенов CD2, CD25, CD123 и CD34 [32][33][34]. HLA-DR, как правило, отрицательный, но его экспрессия может наблю-даться в небольшой части нормальных ТК.…”

Section: таблица в-и с-признаки мц (воз 2008)unclassified

“…Опухолевые ТК, как правило, характеризуются аномальной экспрессией CD25, с или без CD2 [10,[32][33][34][35][36][37], CD123, CD203c, CD63, CD69 или CD45, а также низким уровнем экспрессии CyB12 [34,38]. ТК при СМЦ характеризуются аберрантной анти-генной экспрессией, что позволяет проводить четкую дифферен-циальную диагностику от нормальных ТК с чувствительностью выше 98% и специфичностью 100% [32].…”

Section: таблица в-и с-признаки мц (воз 2008)unclassified

Mastocytosis. Review of the literature and description of clinical cases

Меликян¹,

Subortseva²,

Горячева³

et al. 2014

Ter. arkh.

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“…32 The normal mast cell phenotype is characterized by expression of CD45, CD63, CD203c, FcRIe and cytoplasmic total tryptase (CyB12); and by absence of CD2, CD25, CD123 and CD34 antigens. 33,34 HLA-DR is usually negative, but may also be partially expressed in a small fraction of normal individuals.…”

Section: Multiparameter Flow Cytometrymentioning

confidence: 99%

“…Other abnormal phenotypic profiles that have been described include aberrant expression of CD123; overexpression of CD203c, CD63, CD69 or CD45; and low expression of CyB12. 34,38 It was recently shown that systemic mastocytosis is phenotypically heterogeneous and presents three different maturationassociated immunophenotypic profiles that correlate with molecular subtypes of the disease and have prognostic relevance. 33,36 Patients with indolent systemic mastocytosis and clonal mast cell Expression of CD30 is also related to distinct subtypes of mastocytosis, i.e.…”

Section: Multiparameter Flow Cytometrymentioning

confidence: 99%

Diagnosis and treatment of mast cell disorders: practical recommendations

2013

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CONTEXT AND OBJECTIVE: The term mastocytosis covers a group of rare disorders characterized by neoplastic proliferation and accumulation of clonal mast cells in one or more organs. The aim of this study was to assess the principal elements for diagnosing and treating these disorders. DESIGN AND SETTING: Narrative review of the literature conducted at Grupo Fleury, São Paulo, Brazil. METHODS: This study reviewed the scientific papers published in the PubMed, Embase (Excerpta Medica Database), Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde) and Cochrane Library databases that were identified using the search term "mastocytosis. " RESULTS: The clinical presentation of mastocytosis is remarkably heterogeneous and ranges from skin lesions that may regress spontaneously to aggressive forms associated with organ failure and short survival. Currently, seven subtypes of mastocytosis are recognized through the World Health Organization classification system for hematopoietic tumors. These disorders are diagnosed based on clinical manifestations and on identification of neoplastic mast cells using morphological, immunophenotypic, genetic and molecular methods. Abnormal mast cells display atypical and frequently spindle-shaped morphology, and aberrant expression of the CD25 and CD2 antigens. Elevation of serum tryptase is a common finding in some subtypes, and more than 90% of the patients present the D816V KIT mutation in mast cells. CONCLUSION: Here, we described the most common signs and symptoms among patients with mastocytosis and suggested a practical approach for the diagnosis, classification and initial clinical treatment of mastocytosis. RESUMO CONTEXTO E OBJETIVO:O termo mastocitose abrange um grupo de raras doenças caracterizado por proliferação neoplásica e acúmulo de mastócitos clonais em um ou mais órgãos. O objetivo do presente estudo foi avaliar os principais elementos para o diagnóstico e tratamento dessas desordens. TIPO DE ESTUDO E LOCAL:Revisão narrativa da literatura realizada no Grupo Fleury, São Paulo, Brasil. MÉTODOS: O presente estudo revisou artigos científicos publicados nas bases de dados PubMed, Embase (Excerpta Medica Database), Lilacs (Literatura Latino-Americana e do Caribe em Ciências da Saúde) e Cochrane Library, que foram identificados com o termo de busca "mastocitose". RESULTADOS: A apresentação clínica da mastocitose é marcadamente heterogênea, variando de lesões cutâneas que podem regredir espontaneamente, até formas agressivas associadas a falência de órgãos e curta sobrevida. Atualmente, sete subtipos de mastocitose são reconhecidos pela classificação de tumores hematopoéticos da Organização Mundial de Saúde; o diagnóstico é realizado com base nas manifestações clínicas e na identificação de mastócitos neoplásicos por métodos morfológicos, imunofenotípicos, genéticos e moleculares. Mastócitos anômalos apresentam morfologia atípica, frequentemente fusiforme, e expressão aberrante dos antígenos CD25 e CD2. Aumento de triptase sérica é um achado comum em al...

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Immunophenotypic Characterization of Bone Marrow Mast Cells in Mastocytosis and Other Mast Cell Disorders

Cited by 38 publications

References 89 publications

Validation of the REMA Score for Predicting Mast Cell Clonality and Systemic Mastocytosis in Patients with Systemic Mast Cell Activation Symptoms

Validation of the REMA Score for Predicting Mast Cell Clonality and Systemic Mastocytosis in Patients with Systemic Mast Cell Activation Symptoms

Mastocytosis. Review of the literature and description of clinical cases

Diagnosis and treatment of mast cell disorders: practical recommendations

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