to bone marrow biopsy or not?

[poshpen]

my C-kit results is negative and my tryptase is higher than the last test but still normal so likely only cutaneous Mastocytosis, however I know that 20% of people have a negative C-kit with systemic involvement so am wavering on the biopsy. Does anyone else have a similar story and what did you do? If you had the biopsy what were the results? Any info gratefully received as can’t decide if overkill or necessary , consultant supports either decision

[MadRed13]

Hi poshpen, C-kit in peripheral blood can be helpful but does not always show up the mutation. Even a bone marrow biopsy can miss it if it doesn't hit an area where there are the abnormal cells, though it is more reliable. Took two for me to get my positive result. That said, personally, a decision could depend upon symptoms and their control. If you don't have many symptoms and you respond well to treatments it is not essential to have the biopsy, but as one who always wants to know everything I would opt for it. A systemic mastocytosis diagnosis can even help you to obtain free prescriptions if you are in England.