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Gene expression of stress and toxicity markers in a rare case of mast cell activation syndrome.

Wednesday, October 10, 2012 — Poster Session II

Noon – 2:00 p.m

Natcher Conference Center, Building 45




  • S.B. Ravindran
  • N.S. Patel
  • A.C. Martino
  • R.M. Peace
  • L. B. Afrin
  • W.A. Henderson


Aims: To report gene expression of a rare case of mast cell activation syndrome (MCAS). MCAS is diagnosed when systemic mastocytosis and monoclonal mast cell activation syndrome diseases are excluded in conjunction with 3 following criteria: episodic symptoms consistent with mast cell mediator release; decrease in symptoms with anti-histamine or antimediator therapy and evidence of increase in at least one mast cell mediator. A 16 year old Caucasian American male presented with a history of chronic abdominal pain with diarrhea without resolution. Physical exam revealed splenomegaly, periorbital edema, and dermatographic urticaria. Bone marrow showed mild hypocellularity, unremarkable histology, flow cytometry, and cytogenetics. Methods: Patient was treated with aspirin (1300 mg tid for 6 months). Peripheral whole blood from the patient and 5 healthy controls was collected and RNA extracted. Expression of 96 genes was analyzed using a quantitative real-time PCR array. Results: Colonic biopsies showed increased mast cells (25 per high power field). Duodenal biopsies showed increased expression of IL-6 and XRCC2 was upregulated; IGFBP6, BCL2L1, CYP7A1 and FASLG were downregulated. Patient had resolution of symptoms with aspirin therapy. Conclusion: Response to aspirin with negative bone marrow strengthens the diagnosis of MCAS. Additional trials in this rare disease are needed.

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