Dana-Farber Cancer Institute

Systemic Mastocytosis

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    What Is Systemic Mastocytosis?

    Systemic mastocytosis (SM) is a rare blood cell disorder that happens when too many mast cells build up in parts of the body such as the skin, liver, spleen, intestines, and/or bone marrow. Mast cells are types of white blood cells that are part of the immune system. They help fight infections, respond to allergens, and heal wounds. When activated, mast cells can release certain substances like histamine into the blood.

    Systemic mastocytosis is a type of myeloproliferative neoplasm (MPN) which is a group of blood cancers that occur when the bone marrow produces too many blood cells. With SM, too many mast cells are produced. These mast cells can deposit into different organs, causing symptoms related to the organ involved.

    Our systemic mastocytosis specialists have significant expertise in treating and improving care for patients with systemic mastocytosis. We collaborate closely with Brigham and Women’s specialists in allergy, gastroenterology, and dermatology to provide care. Together, we have formed a Mastocytosis Center of Excellence dedicated to improving care for mastocytosis patients. 

    Exceptional Care for Patients with Systemic Mastocytosis

    • A Center of Excellence focused on systemic mastocytosis that includes experts from several specialties to care for patients and conduct research  
    • A multidisciplinary approach to caring for patients with complex healthcare needs, involving experts from multiple specialties
    • Close collaboration with Brigham and Women’s Hospital, which has the largest Mastocytosis Center in the world
    • Expertise in pathology and diagnostics for systemic mastocytosis using specialized tests, including the Rapid Heme Panel, available only to patients at Dana-Farber.
    • An active clinical research program with clinical trials to identify new and better therapies for patients with systemic mastocytosis
    • Close collaboration with our internationally recognized bone marrow/stem cell transplantation program for patients who require transplantation
    • Second opinion consultation for patients and physicians, nationally and internationally

    What Are the Different Types of Mastocytosis?

    There are different types of mast cell disorders:

    • Cutaneous mastocytosis: Mast cells deposit in the skin and cause skin rash and lesions. This type of mastocytosis does not have bone marrow or other organ mast cell involvement.
    • Systemic mastocytosis: Mast cells form deposits in the bone marrow or other organs. In most cases (more than 90%), SM is associated with the specific KIT D816V mutation and an elevated tryptase level. There are three subtypes of systemic mastocytosis: indolent and smoldering are less aggressive; advanced systemic mastocytosis is more severe.
      • Indolent systemic mastocytosis: This is the most common type and usually progresses slowly. Patients with indolent SM often have disordered mast cell activation leading to symptoms that may be severe and affect daily life.
      • Smoldering systemic mastocytosis: This type is associated with more significant symptoms and may lead to abnormal enlargement of organs (organomegaly) and worsening disease over time.
      • Advanced systemic mastocytosis: This rare type of systemic mastocytosis is more severe, with significant symptoms, and is usually associated with worsening organ dysfunction and damage. Patients with advanced SM require treatment to reduce the number of mast cells.  There are three types of advanced systemic mastocytosis:
        • Aggressive systemic mastocytosis: This subtype consists of pure mast cell disorder in which mast cells grow in the bone marrow and other organs, leading to organ dysfunction and damage.
        • Systemic mastocytosis with an associated hematologic neoplasm (SM-AHN): With this subtype, systemic mastocytosis is usually seen with another myeloid disorder such as a myeloproliferative or myelodysplastic neoplasm.
        • Mast cell leukemia: This is an extremely rare and aggressive disease that occurs when there are a high number of mast cells in the bone marrow aspirate or blood.

    At Dana-Farber, our focus is on caring for patients with systemic mastocytosis including those who also have another blood or bone marrow disorder. We also evaluate patients with other forms of mastocytosis to properly diagnose and treat them.

    What Are the Symptoms of Systemic Mastocytosis?

    The signs and symptoms of systemic mastocytosis differ depending on what part of the body is affected by the increased number of mast cells. For most individuals with cutaneous/skin mastocytosis, dark lesions or pigments on the skin are the main symptoms. Another common symptom is repeated anaphylactic reactions to insect stings, general anesthetics, intravenous contrast media, or other drugs and foods. 

    Other symptoms associated with systemic mastocytosis include:

    • Itchy skin and flushing
    • Osteopenia or osteoporosis which can lead to bone fractures
    • Life threatening anaphylaxis
    • Symptoms and signs of gastroesophageal reflux disease (GERD) or irritable bowel syndrome (IBS)
    • Gastrointestinal symptoms may include abdominal pain, diarrhea, nausea, and vomiting
    • Anemia, which may make you feel tired and weak
    • Heavy bleeding or bruising
    • Fluid collection around the lungs or abdomen which may cause coughing or shortness of breath
    • Liver enlargement and dysfunction which can cause pain
    • Enlarged spleen which can cause pain and abdominal swelling 

    Clinical care provided in collaboration with Brigham and Women’s Hospital.

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