Roberta Zanotti1,2, Ilaria Tanasi1,2, Lara Crosera1, Massimiliano Bonifacio1,2 Donatella Schena2,3, Giovanni Orsolini2,4, Francesca Mastropaolo2,4, Morena Tebaldi2,5, Elisa Olivieri2,6 and Patrizia Bonadonna2,6.
1 Hematology Unit, Department of Medicine, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
2 Interdisciplinary Study Group for Mastocytosis (GISM), Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
3 Dermatology Unit, Department of Medicine, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
4 Rheumatology Unit, Department of Medicine, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
5 Gastroenterology Unit, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
6 Allergy Unit, Azienda Ospedaliera Universitaria Integrata di Verona, Verona, Italy.
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Mastocytosis (SM) is a heterogeneous group of diseases that affect
almost exclusively adults and are defined by the proliferation and
accumulation of clonal mast cells (MC) in various tissues. Disease
subtypes range from indolent to rare but aggressive forms. Although SM
is classified as a rare disease, it is believed to be likely
underdiagnosed. Major signs and symptoms mainly depend on MC activation
and less frequent organ infiltration, typical of more aggressive
variants. Diagnosis may be challenging, and symptoms can be aspecific
and involve several organs. Therefore, it is advisable to refer
patients to specialized centers, having sufficient knowledge of the
disease, sensitive diagnostic procedures, offering a personalized and
multidisciplinary diagnostic approach, including at least
hematological, allergological, dermatological, and rheumatological
evaluations. A precise and timely diagnosis is required for: a)
adequate counseling of patients and their physicians; b) beginning of
symptomatic treatment (anti-mediator therapy); c) prevention of severe
manifestations of the disease (i.e., recurrent anaphylaxis,
osteoporosis, and bone fractures); d) cytoreductive treatment of
advanced SM variants.
|Table 1. Criteria for diagnosis and definition of major clinical variants in systemic Mastocytosis (SM) (WHO, 2008; updated in 2016).|
|Table 2. Classification of systemic Mastocytosis.[1,5]|
Hematologic Diagnostic Workup
|Table 3. The REMA Score (Red Española de Mastocitosis).|
|Table 4. Factors that can lead to mast cells mediators release.|
|Table 5. Workup for suspected systemic Mastocytosis; modified from Gotlib et al 2018.|
|Figure 1. Bone marrow histology of two patients with D816V KIT-mutated ISM. Case 1 (upper panel) shows an aggregate of more than 15 mast cells, i.e. the major diagnostic criterion (A: H&E; B: CD117 staining, C: CD25 staining). Case 2 (lower panel) shows isolated spindle-shaped paratrabecular atypical mast cells (A: H&E; B: tryptase staining, C: CD25 staining). (courtesy of dr Alice Parisi).|
Multidisciplinary Evaluation and Treatment
|Figure 2. Maculopapular cutaneous Mastocytosis (or Urticaria Pigmentosa) (courtesy of dr Donatella Schena).|
Treatment of Advanced Systemic Mastocytosis