By: Allen Wilbanks
William Shomali, MD, is a respected expert in systemic mastocytosis, known for his collaborative work with Jason Gottlieb at Stanford University. In a recent presentation, he shared valuable insights on this complex condition.
Dr. Shomali began by expressing gratitude for the invitation and acknowledged MD Education for arranging the event. He then delved into systemic mastocytosis, emphasizing its challenging diagnosis due to the loss of granules in fixed tissue samples.
He outlined the World Health Organization's classification of systemic mastocytosis, explaining its three main categories. Dr. Shomali highlighted the subtypes within systemic mastocytosis and discussed diagnostic criteria, emphasizing the significance of identifying aggregates of mast cells and specific markers like CD117 and tryptase staining.
Prognosis and risk factors were addressed, including mutational profiles, and the risk of progression from indolent to advanced forms of the disease was discussed. Dr. Shomali presented survival data for different subtypes and outlined four prognostic models.
Treatment strategies were also covered, starting with general measures like trigger avoidance and epinephrine pens. He discussed the use of blockers and various medications for refractory symptoms. Tyrosine kinase inhibitors (TKIs) like imatinib, midostaurin, and avapritinib were explained, along with their response criteria and side effects.
Dr. Shomali highlighted the importance of addressing side effects for patient comfort and adherence. He concluded by discussing ongoing clinical trials and future directions in systemic mastocytosis research.
In summary, Dr. Shomali's presentation offered a comprehensive understanding of systemic mastocytosis, from diagnosis and treatment to prognosis and ongoing research, making it a valuable resource for the medical community.