Clinical, Biological And Molecular Characteristics Of Mast Cell Activation Disorders: A Prospective Study In 62 Patients By The Spanish Network On Mastocytosis (REMA).

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

“…. Interestingly, the BM MC burden can be extremely low among ISM patients [0.09% (range: 0.0006-0.5%) on ISMs À and 0.1% (range: 0.003-1.47%) on ISMs + cases], and the observation of coexisting normal and pathological MCs in the same patient is a relatively frequent finding (33% of ISMs À patients and 18% of ISMs + cases) (Alvarez-Twose et al, 2009). 2).…”

“…Despite the fact that SM is a group of heterogeneous diseases regarding both their clinical behavior and prognosis (Akin et al, 2004a(Akin et al, , 2004bAlvarez-Twose et al, 2009Bonadonna et al, 2009;Escribano et al, 2009;Lim et al, 2009;Valent et al, 2001aValent et al, , 2007, only recently the immunophenotypic profiles of the distinct subtypes of SM were studied individually ; in such analysis, three different patterns were identified, which correlate with distinct prognostic and molecular subtypes of SM at the same time they reflect the maturation status of clonal MC (Fig. 1).…”

Clinical, biological, and molecular characteristics of clonal mast cell disorders presenting with systemic mast cell activation symptoms

“…17 SM in the absence of skin lesions can be associated with aggressive categories of the disease, but indolent SM (ISM) in the absence of skin involvement (ISMs -) has been recognized since 1991. 18 In recent years, the presence of clonal MCs in a subset of patients with idiopathic recurrent anaphylaxis has been reported 19,20 (see also the Online Repository at www.jacionline.org) and named clonal MCAD (c-MCAD) 21 or monoclonal MC activation syndrome. 22,23 Interestingly, in c-MCAD, a lower incidence of both urticaria and angioedema has been reported during acute MC mediator release episodes.…”

“…22,23 Interestingly, in c-MCAD, a lower incidence of both urticaria and angioedema has been reported during acute MC mediator release episodes. 20,24 More recently, proposals and recommendations for an integrated diagnosis of MCAD and c-MCAD 21 together with a series of MCAD associated with Hymenoptera sting anaphylaxis have been reported. 25 However, no study has been reported so far in which the clinicobiological features of patients presenting with systemic MC activation symptoms/anaphylaxis in the absence of skin mastocytosis have been prospectively analyzed in patients with clonal versus nonclonal MCs.…”

Evaluation of the WHO criteria for the classification of patients with mastocytosis

“…More recently, diagnostic guidelines, algorithms, and recommendations to facilitate implementation of the WHO criteria have been proposed and preliminary descriptions of new provisional subvariants have been described; [5][6][7][8][9][10][11][12] these include well-differentiated systemic mastocytosis 13,14 and clonal mast cell-activation syndromes in the absence of skin lesions, also termed as monoclonal mast cell-activation syndrome 12,15 or clonal mast cell-activation disorders, 16,17 the later only partially fulfilling the criteria for systemic mastocytosis.…”