Mastocytosis

Question 1

What type of mutation is mastocytosis?

Answer 1

C-Kit mutation or PDGFRA activation via F1P1 translocation.

Question 2

What exactly underlies mastocytosis

Answer 2

increased tyrosine kinase activity leading to over proliferation of mast cells.

Question 3

What do pts present with?

Answer 3

Its variable and confusing. Often flushing, abdominal pain, hypotension, tachycardia.

Question 4

Immunophenotype

Answer 4

Tryptase (mast cell granule)
CD117 (Blast CKIT, SCF receptor)
CD 25

Question 5

Treat with?

Answer 5

Imatinib

Question 6

Morphology?

Answer 6

Aggregates of bland cells