This article appeared in the April 2012 issue of Physician News.
Mastocytosis Center Offers Advanced Approaches to Diagnosis and Treatment
The Mastocytosis Center at Brigham and Women’s Hospital (BWH), a first-of-its-kind center, provides expert multidisciplinary evaluation and treatment for patients from across the country. Led by Allergist and Immunologist Cem Akin, MD, PhD, specialists in the Center have developed advanced approaches to diagnosis and treatment of the disease. “Many cases of mastocytosis are missed, especially early in the disease, leading to a delay in critical treatment,” said Dr. Akin. “We are collaborating with specialized pathologists and geneticists to incorporate innovative approaches designed to ensure accurate diagnoses.” Center specialists are using a state-of-the-art approach with flow cytometry to detect abnormal mast cells and also are working with geneticists to screen patients for a mutation in the c-kit gene, evident in 95 percent of adult-onset mastocytosis cases. Genetic screening is performed at the BWH Center for Advanced Molecular Diagnostics.
Normal mast cell
Researchers in the Center also are currently leading studies evaluating its correlation among patients with anaphylaxis or hypotension upon exercising; osteoporosis; or severe bee sting allergies. These studies will help describe the frequency of mast cell disease in particular presentations and better characterize the molecular pathophysiology of mast cell disease. In addition, researchers in the Center are examining familial connections in mast cell disease among families that contain more than one member with the disease. “There is a great deal of clinical diversity in mast cell disease,” said Dr. Akin. “Further analysis will likely identify additional molecular phenotypes that will help us to develop new treatment approaches.”
Increased numbers and dense clustering of mast cells in the bone marrow of a patient with systemic mastocytosis highlighted by tryptase stain
Dr. Akin and Mariana Castells, MD, PhD, Associate Director, Mastocytosis Center, have authored several papers describing Mast Cell Activation Syndrome (MCAS) and the criteria for diagnosis and treatment (Int Arch Allergy Immunol. 2012; 157(3):215-25. and J Allergy Clin Immunol. 2010 Dec;126(6): 1099-104.e4.).
Antihistamines, sodium cromolyn, anti-leukotrienes, and epinephrine, as well as avoidance of triggers, are used to control symptoms. For the 20 percent of patients with mastocytosis who develop leukemia or aggressive mast cell disease, cytoreductive therapy is used to destroy mast cells (Blood. 2010 Dec 23;116(26):5812-7.). Care for these patients is coordinated among specialists in the Center for Hematologic Oncology at Dana-Farber/Brigham and Women’s Cancer Center. A new multicenter trial, led by Daniel J. DeAngelo, MD, PhD, Clinical Director, Adult Leukemia Services, Center for Hematologic Oncology, is using PKC412 to target the mutated c-kit gene in patients with aggressive mastocytosis with a high degree of mast cell infiltration in the bone marrow, spleen, or liver. For children with mast cell disease, Center specialists collaborate with Children’s Hospital Boston.
Indications for Referral
Center specialists provide specialized evaluation and care for patients with suspected or confirmed mast cell disease, including patients with:
- Established diagnosis of cutaneous or systemic mastocytosis;
- Unexplained recurrent anaphylaxis;
- Elevated tryptase, histamine or prostaglandins levels;
- Severe hypotensive bee sting allergies.
This page was last modified on 4/13/2016