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The MastAttack 107: The Layperson’s Guide to Understanding Mast Cell Diseases, Part 43

52. Is it true that it can take up to six bone marrow biopsies to diagnose systemic mastocytosis?

Sort of. This has become sort of an urban legend in the mast cell community. I am partly to blame for this as I have offered this information up several times without explaining it, which is lazy on my part.

Systemic mastocytosis is diagnosed by biopsy. While a positive biopsy in any organ that’s not skin can be used to diagnose SM, bone marrow biopsies are overwhelmingly what is used to diagnose.

In 2004, a paper was published that discussed how well bone marrow biopsies worked for diagnosing SM in a group of 23 patients. These patients had bilateral bone marrow biopsies taken, so each patient had one on each side. In 19 of those patients, both of the biopsies showed mastocytosis. In 4 of those patients, only one of their two biopsies was positive. 4/23 is 17%, which is roughly 1/6. Based upon this figure, it means that theoretically, in a patient who has SM, they could have five negative biopsies before getting a positive biopsy.

It’s important to two things in mind when you think about this 1/6 thing. Firstly, this is a very small patient group. Things that you see in a small group don’t always translate to what really happens in larger groups. Another thing is that the criteria they used in 2004 to diagnose SM are not the same as the criteria we use now. It’s possible that with changes in diagnostic criteria that this 1/6 number is no longer accurate.

In reality, I have never met a person who needed six bone marrow biopsies to get a positive biopsy for SM. But I do know a few who needed two or three. It’s not impossible that it could take six to get a positive biopsy but it’s unlikely.

However, it’s also important to realize that every expert acknowledges that you can have a negative biopsy while having SM. The reason for this is that you can’t tell by looking whether or not a biopsy site will give you a positive biopsy for SM. You have to just hope that the mast cells are clustered where they stick the needle. Mast cells don’t cluster evenly throughout your bone marrow when you have SM. If you get a biopsy site where the mast cells didn’t happen to cluster, you are out of luck. For this reason, some doctors advocate getting bilateral bone marrow biopsies (two at once) to increase the chances of catching a positive biopsy.