Systemic mastocytosis

Common Name(s)

Systemic mastocytosis

Systemic mastocytosis is a condition caused by the accumulation of mast cells in more than one part of the body. Mast cells contain substances such as histamine that regulate allergic reactions. In systemic mastocytosis, mast cells may build up in the bone marrow, internal organs, or in the skin. This condition is usually diagnosed in adults. Treatment is generally based on a person's symptoms, but it may include antihistamines (to prevent the effect of mast cell histamine) or chemotherapy for more aggressive forms.

There are several different types of systemic mastocytosis. Indolent systemic mastocytosis develops slowly, while aggressive systemic mastocytosis develops more rapidly. Another form, called systemic mastocytosis with associated hemotologic non-mast cell lineage disease (SM-AHNMD), is characterized by the presence of several types of blood disorders. Mast cell leukemia is a rare form of systemic mastocytosis.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Systemic mastocytosis" for support, advocacy or research.

The Mastocytosis Society, Inc

The Mastocytosis Society is a 501(c)3 nonprofit organization dedicated to supporting patients affected by Mastocytosis or Mast Cell Activation Disorders as well as their families, caregivers, and physicians through research, education, and advocacy.

Last Updated: 20 Nov 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Systemic mastocytosis" for support, advocacy or research.

The Mastocytosis Society, Inc

The Mastocytosis Society is a 501(c)3 nonprofit organization dedicated to supporting patients affected by Mastocytosis or Mast Cell Activation Disorders as well as their families, caregivers, and physicians through research, education, and advocacy.

http://www.TMSforacure.org

Last Updated: 20 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Systemic mastocytosis" returned 149 free, full-text research articles on human participants. First 3 results:

Systemic mastocytosis: a rare cause of single vertebral body uptake on bone scan.
 

Author(s): Monzer Chehab, Alexander Copelan, Zaid Al-faham, Lawrence Bahoura, Ching Yee Oliver Wong

Journal:

 

Systemic Mastocytosis is a rare condition characterized by the abnormal proliferation of Mast Cells. Presentation as a solitary vertebral body lesion is extremely uncommon and may be confused with more ominous conditions such as metastasis. Familiarity with the condition can heighten ...

Last Updated: 30 Apr 2015

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Hodgkin's lymphoma is a rare form of clonal haematological non-mast cell disease in systemic mastocytosis.
 

Author(s): Gorana Gasljevic, Biljana Grcar-Kuzmanov, Alenka Grosel, Matjaz Sever, Barbara Gazic, Veronika Kloboves-Prevodnik

Journal:

 

The association of systemic mastocytosis (SM) with a non-mast cell haematological neoplasm represents a specific subtype of mastocytosis termed systemic mastocytosis with associated haematological non-mast cell disease (SM-AHNMD). The overwhelming majority of the associated neoplasms ...

Last Updated: 17 Apr 2015

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Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia.
 

Author(s): T L Lasho, C M Finke, D Zblewski, M Patnaik, R P Ketterling, D Chen, C A Hanson, A Tefferi, A Pardanani

Journal:

 

Although KITD816V occurs universally in adult systemic mastocytosis (SM), the clinical heterogeneity of SM suggests presence of additional phenotype-patterning mutations. Because up to 25% of SM patients have KITD816V-positive eosinophilia, we undertook whole-exome sequencing in a ...

Last Updated: 24 Jan 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Systemic mastocytosis" returned 20 free, full-text review articles on human participants. First 3 results:

Critical care management of systemic mastocytosis: when every wasp is a killer bee.
 

Author(s): Hinke Y van der Weide, David J van Westerloo, Walter M van den Bergh

Journal:

 

Since the critical care physician will most likely be involved in a life-threatening expression of systemic mastocytosis, recognition of this disease is of utmost importance in the critical care management of these patients. Mastocytosis is a severely under-recognized disease because ...

Last Updated: 3 Jun 2015

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Anaphylactic reaction to platelet transfusion as the initial symptom of an undiagnosed systemic mastocytosis: a case report and review of the literature.
 

Author(s): Clifford R Blieden, German Campuzano-Zuluaga, Adrienne Moul, Jennifer R Chapman, Maureen Cioffi-Lavina, Offiong F Ikpatt, Gerald E Byrne, Francisco Vega

Journal:

 

The association between anaphylactic reactions and systemic mastocytosis is well documented. However, platelet transfusion has not previously been reported as a potential elicitor of anaphylaxis in the context of systemic mastocytosis.

Last Updated: 6 Dec 2014

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The immunophenotype of mast cells and its utility in the diagnostic work-up of systemic mastocytosis.
 

Author(s): Cristina Teodosio, Andrea Mayado, Laura Sánchez-Muñoz, José M Morgado, María Jara-Acevedo, Ivan Álvarez-Twose, Andrés C García-Montero, Almudena Matito, Caldas Caldas, Luis Escribano, Alberto Orfao

Journal: J. Leukoc. Biol.. 2015 Jan;97(1):49-59.

 

SM comprises a heterogeneous group of disorders, characterized by an abnormal accumulation of clonal MCs in 1 or more tissues, frequently involving the skin and BM. Despite the fact that most adult patients (>90%) carry the same genetic lesion (D816V KIT mutation), the disease presents ...

Last Updated: 6 Jan 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Patient-Reported Outcome Questionnaire for Systemic Mastocytosis
 

Status: Recruiting

Condition Summary: Aggressive Systemic Mastocytosis (ASM); Systemic Mastocytosis With Associated Clonal Hematological Non-mast Cell Lineage Disease (SM-AHNMD); Mast Cell Leukemia (MCL); Smoldering Systemic Mastocytosis (SSM); Indolent Systemic Mastocytosis (ISM) [ISM Subgroup Fully Recruited]

 

Last Updated: 2 Mar 2015

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Ibrutinib in Treating Patients With Advanced Systemic Mastocytosis
 

Status: Recruiting

Condition Summary: Aggressive Systemic Mastocytosis; Mast Cell Leukemia; Systemic Mastocytosis; Associated Clonal Hematological Non-Mast-Cell Lineage Disease

 

Last Updated: 8 Jan 2016

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Treatment of Indolent Systemic Mastocytosis With PA101
 

Status: Recruiting

Condition Summary: Mastocytosis; Systemic Mastocytosis; Indolent Systemic Mastocytosis

 

Last Updated: 24 Sep 2015

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