Diagnosis Explanation
In support of
Shannon Dingey
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Shannon Dingey
Some background and general info on Systemic Mastocytosis (SM). SM at any stage is cancer. However, Indolent (ISM)(first) and Smoldering (SSM)(second) stages are slow producing and non advanced. For these stages the treatment protocol is typically benign and consisting of H1 and H2 antihistamines, mast cell stabilizers, and now commonly a low dose (25mg) of Ayvakit, a TKI drug/oral chemo. But Aggressive (ASM)(3rd), SM-AHN, and Mast Cell Leukemia (MCL)(4th) are fast producing and advanced. At these stages treatment is oral chemo and possibly other chemo. These stages are cancer.
To explain how and why the disease has progressed. The results of the bone marrow biopsy I had done in February did not show progression, they were consistent with the diagnosis of Indolent (ISM). But the fact that my symptoms are still out of control on the most aggressive regimen was perplexing. So my dr took my case to the tumor board and sought advice from top drs in the country for Mastocytosis. Their consensus was that my symptoms being largely GI symptoms means that the majority of the abnormal mast cell burden is in my GI tract which is not easy to test for and quantify and isn’t always reflective on the bone marrow biopsy. So they recommended doing the KIT mutation blood test to see the VAF %(variant allele frequency) in my blood. The test came back at 28.9% so basically 30% abnormal mast cell burden which in my drs words is “significant and quite high”. Per the recommendation of the tumor board it needs to be treated aggressively like they would treat ASM or MCL. (For reference >20% burden in bone marrow is diagnosed as MCL) My Hematologist said my case is unique and in a grey area where by diagnostic criteria it is ISM but by burden it is ASM. SM is rare and there is on going research and clinical trials and constantly new tests for diagnostics that diagnosis and treatment is still subjective and case by case. Obviously this is a lot of information and confusing that’s why it’s easiest to just say it is ASM and cancer because that is how it is being treated.
To explain how and why the disease has progressed. The results of the bone marrow biopsy I had done in February did not show progression, they were consistent with the diagnosis of Indolent (ISM). But the fact that my symptoms are still out of control on the most aggressive regimen was perplexing. So my dr took my case to the tumor board and sought advice from top drs in the country for Mastocytosis. Their consensus was that my symptoms being largely GI symptoms means that the majority of the abnormal mast cell burden is in my GI tract which is not easy to test for and quantify and isn’t always reflective on the bone marrow biopsy. So they recommended doing the KIT mutation blood test to see the VAF %(variant allele frequency) in my blood. The test came back at 28.9% so basically 30% abnormal mast cell burden which in my drs words is “significant and quite high”. Per the recommendation of the tumor board it needs to be treated aggressively like they would treat ASM or MCL. (For reference >20% burden in bone marrow is diagnosed as MCL) My Hematologist said my case is unique and in a grey area where by diagnostic criteria it is ISM but by burden it is ASM. SM is rare and there is on going research and clinical trials and constantly new tests for diagnostics that diagnosis and treatment is still subjective and case by case. Obviously this is a lot of information and confusing that’s why it’s easiest to just say it is ASM and cancer because that is how it is being treated.
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