Am J Blood Res 2013;3(2):174-180
Original Article
Guidelines and diagnostic algorithm for patients with suspected systemic
mastocytosis: a proposal of the Austrian competence network (AUCNM)
Peter Valent, Elisabeth Aberer, Christine Beham-Schmid, Christina Fellinger, Wolfgang Fuchs, Karoline V Gleixner,
Rosemarie Greul, Emir Hadzijusufovic, Gregor Hoermann, Wolfgang R Sperr, Friedrich Wimazal, Stefan Wöhrl, Brigitte Zahel,
Hubert Pehamberger
Department of Medicine I, Division of Hematology & Hemostaseology, Ludwig Boltzmann Cluster Oncology, Medical University
of Vienna, Austria; Department of Dermatology and Venereology, Medical University of Graz, Austria; Institute of Pathology,
Medical University of Graz, Austria; Floridsdorf Allergy Center (FAZ), Vienna, Austria; Department of Dermatology, General
Hospital of Linz, Austria; Department of Oncology, General Hospital of Linz, Austria; Department for Companion Animals and
Horses, Clinic for Internal Medicine and Infectious Diseases, University of Veterinary Medicine Vienna, Austria; Department of
Laboratory Medicine, Medical University of Vienna, Austria; Department of Obstetrics and Gynecology, Medical University of
Vienna, Austria; Department of Dermatology, Medical University of Vienna, Austria
Received January 21, 2013; Accepted March 18, 2013; Epub May 5, 2013; Published May 15, 2013
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. (AJBR1301003).
Keywords: Mastocytosis, tryptase, KIT D816V, diagnostic algorithm, staging
Address correspondence to: Dr. Peter Valent, Department of Medicine I, Division of Hematology & Hemostaseology, Medical
University of Vienna, Währinger Gürtel 18-20 Vienna, Austria. Tel: + 43 1 40400 6085; Fax: + 43 1 402 6930; E-mail: peter.
valent@meduniwien.ac.at
Original Article
Guidelines and diagnostic algorithm for patients with suspected systemic
mastocytosis: a proposal of the Austrian competence network (AUCNM)
Peter Valent, Elisabeth Aberer, Christine Beham-Schmid, Christina Fellinger, Wolfgang Fuchs, Karoline V Gleixner,
Rosemarie Greul, Emir Hadzijusufovic, Gregor Hoermann, Wolfgang R Sperr, Friedrich Wimazal, Stefan Wöhrl, Brigitte Zahel,
Hubert Pehamberger
Department of Medicine I, Division of Hematology & Hemostaseology, Ludwig Boltzmann Cluster Oncology, Medical University
of Vienna, Austria; Department of Dermatology and Venereology, Medical University of Graz, Austria; Institute of Pathology,
Medical University of Graz, Austria; Floridsdorf Allergy Center (FAZ), Vienna, Austria; Department of Dermatology, General
Hospital of Linz, Austria; Department of Oncology, General Hospital of Linz, Austria; Department for Companion Animals and
Horses, Clinic for Internal Medicine and Infectious Diseases, University of Veterinary Medicine Vienna, Austria; Department of
Laboratory Medicine, Medical University of Vienna, Austria; Department of Obstetrics and Gynecology, Medical University of
Vienna, Austria; Department of Dermatology, Medical University of Vienna, Austria
Received January 21, 2013; Accepted March 18, 2013; Epub May 5, 2013; Published May 15, 2013
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. (AJBR1301003).
Keywords: Mastocytosis, tryptase, KIT D816V, diagnostic algorithm, staging
Address correspondence to: Dr. Peter Valent, Department of Medicine I, Division of Hematology & Hemostaseology, Medical
University of Vienna, Währinger Gürtel 18-20 Vienna, Austria. Tel: + 43 1 40400 6085; Fax: + 43 1 402 6930; E-mail: peter.
valent@meduniwien.ac.at
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