Vol 11, No 2 (2020)
Guidelines / Expert consensus
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Diagnosis and treatment of systemic mastocytosis — experts’ statement

Marek Hus1, Aneta Szudy-Szczyrek1, Grzegorz Helbig2, Tomasz Sacha3, Andrzej Mital4, Bożena Katarzyna-Budziszewska5, Monika Prochorec-Sobieszek56, Krystyna Gałązka7
DOI: 10.5603/Hem.2020.0008
·
Hematologia 2020;11(2):61-72.
Affiliations
  1. Katedra i Klinika Hematoonkologii i Transplantacji Szpiku, Uniwersytet Medyczny w Lublinie, ul. Staszica 11, 20-081 Lublin, Poland
  2. Katedra i Klinika Hematologii i Transplantacji Szpiku, Śląski Uniwersytet Medyczny w Katowicach, Poland
  3. Klinika Hematologii, Uniwersytet Jagielloński, Collegium Medicum w Krakowie, Poland
  4. Klinika Hematologii i Transplantacji Szpiku, Uniwersyteckie Centrum Kliniczne w Gdańsku, Poland
  5. Instytut Hematologii i Transfuzjologii, Warszawa, Poland
  6. Narodowy Instytut Onkologii im. Marii Skłodowskiej-Curie, Państwowy Instytut Badawczy w Warszawie, Poland
  7. Katedra Patomorfologii, Uniwersytet Jagielloński, Collegium Medicum w Krakowie, Poland

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Vol 11, No 2 (2020)
EXPERT POSITION

Abstract

Systemic mastocytosis (SM) is a rare hematological malignancy characterized by an abnormal expansion and accumulation of pathological mast cells in bone marrow and other organs including skin, liver, spleen and lymph nodes. The clinical manifestation can be extremely heterogeneous, from limited skin changes to multi-organ involvement or mast cell tumors. The median survival of patients diagnosed with indolent form is comparable to healthy population, while prognosis for patients with advanced disease is poor, with an estimated survival ranging from several months to several years. In most patients (> 90%), a somatic mutation in codon 816 of the c-KIT gene encoding tyrosine kinase receptor is detected. Additional molecular abnormalities and even coexistence of other hematological cancers, e.g. acute leukemia, are also observed. Regardless of the form of disease or serum tryptase concentration, patients are exposed to symptoms resulting from the release of mast cell mediators — most often itching, paroxysmal redness and blisters, and general mediator-induced symptoms — such as nausea, vomiting, diarrhea, abdominal pain, hypotensive episodes, fatigue, headache, fever, shortness of breath, osteopenia, osteoporosis and severe anaphylactic reactions. This paper presents current outlook on the diagnostic and treatment process of SM, taking into account the interdisciplinary aspects of the disease.

Abstract

Systemic mastocytosis (SM) is a rare hematological malignancy characterized by an abnormal expansion and accumulation of pathological mast cells in bone marrow and other organs including skin, liver, spleen and lymph nodes. The clinical manifestation can be extremely heterogeneous, from limited skin changes to multi-organ involvement or mast cell tumors. The median survival of patients diagnosed with indolent form is comparable to healthy population, while prognosis for patients with advanced disease is poor, with an estimated survival ranging from several months to several years. In most patients (> 90%), a somatic mutation in codon 816 of the c-KIT gene encoding tyrosine kinase receptor is detected. Additional molecular abnormalities and even coexistence of other hematological cancers, e.g. acute leukemia, are also observed. Regardless of the form of disease or serum tryptase concentration, patients are exposed to symptoms resulting from the release of mast cell mediators — most often itching, paroxysmal redness and blisters, and general mediator-induced symptoms — such as nausea, vomiting, diarrhea, abdominal pain, hypotensive episodes, fatigue, headache, fever, shortness of breath, osteopenia, osteoporosis and severe anaphylactic reactions. This paper presents current outlook on the diagnostic and treatment process of SM, taking into account the interdisciplinary aspects of the disease.
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Keywords

systemic mastocytosis, diagnosis and treatment, tryptase, mast cells, KIT D816V mutation, anaphylaxis, urticaria pigmentosa

About this article
Title

Diagnosis and treatment of systemic mastocytosis — experts’ statement

Journal

Hematology in Clinical Practice

Issue

Vol 11, No 2 (2020)

Article type

Guidelines / Expert consensus

Pages

61-72

DOI

10.5603/Hem.2020.0008

Bibliographic record

Hematologia 2020;11(2):61-72.

Keywords

systemic mastocytosis
diagnosis and treatment
tryptase
mast cells
KIT D816V mutation
anaphylaxis
urticaria pigmentosa

Authors

Marek Hus
Aneta Szudy-Szczyrek
Grzegorz Helbig
Tomasz Sacha
Andrzej Mital
Bożena Katarzyna-Budziszewska
Monika Prochorec-Sobieszek
Krystyna Gałązka

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