Systemic Mastocytosis Overview
Learn About Systemic Mastocytosis
Systemic mastocytosis is a blood disorder that can affect many different body systems. Individuals with the condition can develop signs and symptoms at any age, but it usually appears after adolescence.
Systemic mastocytosis occurs when white blood cells called mast cells, which are produced in bone marrow, abnormally accumulate in one or more tissues. In most cases of systemic mastocytosis, the accumulated mast cells have a mutation in a gene called KIT. The KIT gene provides instructions for making a protein that plays an important role in development and activity of mast cells. The KIT protein stimulates chemical signaling pathways that are involved in the growth and division (proliferation) of many types of cells, including mast cells. In systemic mastocytosis, KIT gene mutations are somatic, which means they are acquired during a person's lifetime. These mutations result in a KIT protein that is always turned on (activated). As a result, signaling pathways are overactive, leading to increased production and accumulation of mast cells.
Systemic mastocytosis is estimated to occur in 1 per 10,000 to 20,000 individuals worldwide.
This condition is generally not inherited but arises from a somatic mutation in the body's cells that occurs after conception.
Ochsner Clinic LLC
Laura Finn is an Oncologist and a Hematologist Oncology provider in New Orleans, Louisiana. Dr. Finn and is rated as an Advanced provider by MediFind in the treatment of Systemic Mastocytosis. Her top areas of expertise are Acute Myeloid Leukemia (AML), Acute Myeloblastic Leukemia without Maturation, Non-Hodgkin Lymphoma, Bone Marrow Aspiration, and Bone Marrow Transplant. Dr. Finn is currently accepting new patients.
Lafayette General Medical Center Inc
Philippe Prouet is a Hematologist Oncology specialist and a Hematologist in Lafayette, Louisiana. Dr. Prouet and is rated as an Experienced provider by MediFind in the treatment of Systemic Mastocytosis. His top areas of expertise are Familial Colorectal Cancer, Colorectal Cancer, Non-Hodgkin Lymphoma, and Familial Pancreatic Cancer. Dr. Prouet is currently accepting new patients.
Christus Trinity Clinic
Bassam Abi-Rached is a Hematologist Oncology specialist and a Hematologist in Shreveport, Louisiana. Dr. Abi-Rached and is rated as an Experienced provider by MediFind in the treatment of Systemic Mastocytosis. His top areas of expertise are Thrombocytopenia, Adult Immune Thrombocytopenia, Hemangioma Thrombocytopenia Syndrome, Familial Colorectal Cancer, and Bone Marrow Aspiration. Dr. Abi-Rached is currently accepting new patients.
Summary: The primary objective of the rollover study is to evaluate the long-term safety of avapritinib in participants who have completed a Blueprint Medicines sponsored study (parent study) and continued to benefit from avapritinib.
Summary: Systemic mastocytosis with an associated hematologic neoplasm (SM-AHN) is a challenging disease to treat. Targeted KIT inhibitors have been approved for this indication based on their ability to control the mastocytosis portion of the disease, but patients frequently experience progression of the concomitant myeloid malignancy (i.e. the AHN). Using a combination approach to treat both aspects of t...
Published Date: October 01, 2018
Published By: National Institutes of Health