title: Guidelines and diagnostic algorithm for patients with suspected systemic mastocytosis: a proposal of the Austrian competence network (AUCNM).
abstract: Systemic mastocytosis (SM) is a hematopoietic neoplasm characterized by pathologic expansion of tissue mast cells in one or more extracutaneous organs. In most children and most adult patients, skin involvement is found. Childhood patients frequently suffer from cutaneous mastocytosis without systemic involvement, whereas most adult patients are diagnosed as suffering from SM. In a smaller subset of patients, SM without skin lesions develops which is a diagnostic challenge. In the current article, a diagnostic algorithm for patients with suspected SM is proposed. In adult patients with skin lesions and histologically confirmed mastocytosis in the skin (MIS), a bone marrow biopsy is recommended regardless of the serum tryptase level. In adult patients without skin lesions who are suffering from typical mediator-related symptoms, the basal serum tryptase level is an important diagnostic parameter. In those with slightly elevated tryptase (15-30 ng/ml), additional non-invasive investigations, including a KIT mutation analysis of peripheral blood cells and sonographic analysis, is performed. In adult patients in whom i) KIT D816V is detected or/and ii) the basal serum tryptase level is clearly elevated (> 30 ng/ml) or/and iii) other clinical or laboratory features are suggesting the presence of occult mastocytosis, a bone marrow biopsy should be performed. In the absence of KIT D816V and other indications of mastocytosis, no bone marrow investigation is required, but the patient's course and the serum tryptase levels are examined in the follow-up.
authors.affiliation: Department of Medicine I, Division of Hematology & Hemostaseology, Medical University of Vienna Austria ; Ludwig Boltzmann Cluster Oncology, Medical University of Vienna Austria.
authors.forename: Peter
authors.initials: P
authors.lastname: Valent
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Aberer
authors.forename: Christine
authors.initials: C
authors.lastname: Beham-Schmid
authors.forename: Christina
authors.initials: C
authors.lastname: Fellinger
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Fuchs
authors.forename: Karoline V
authors.initials: KV
authors.lastname: Gleixner
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Greul
authors.forename: Emir
authors.initials: E
authors.lastname: Hadzijusufovic
authors.forename: Gregor
authors.initials: G
authors.lastname: Hoermann
authors.forename: Wolfgang R
authors.initials: WR
authors.lastname: Sperr
authors.forename: Friedrich
authors.initials: F
authors.lastname: Wimazal
authors.forename: Stefan
authors.initials: S
authors.lastname: Wöhrl
authors.forename: Brigitte
authors.initials: B
authors.lastname: Zahel
authors.forename: Hubert
authors.initials: H
authors.lastname: Pehamberger
keywords: KIT D816V; Mastocytosis; diagnostic algorithm; staging; tryptase