Advanced systemic mastocytosis (aggressive SM, SM with an associated haematological neoplasm, mast cell leukaemia)
Prepared with OnCo (onco.cc/prep/advanced-systemic-mastocytosis/). Orientation, not medical advice; your team knows your case.
My details
What I know, what is unclear, changes to discuss
Saved in this browserMy questions
18 on the sheet- 1.What is my exact diagnosis, stage, and grade, and which tests established them?
- 2.Which biomarkers have been tested on my tumour (for example C findings, Serum tryptase and KIT D816V allele burden, Mast cell percentage in marrow aspirate, SRSF2, ASXL1 and RUNX1 mutations; MARS and IPSM prognostic scores, Platelet count), and what were the results?
- 3.Which subtype is my cancer, and does that change the recommended treatment?
- 4.Is germline (inherited) genetic testing recommended for me or my family?
- 5.For my situation (diagnosis and risk assessment), which of the standard options do you recommend and why?
- 6.For my situation (first line), which of the standard options do you recommend and why?
- 7.Am I a candidate for Avapritinib, Midostaurin, and what side effects should I expect?
- 8.For my situation (associated haematological neoplasm), which of the standard options do you recommend and why?
- 9.Am I a candidate for Azacitidine, Midostaurin, and what side effects should I expect?
- 10.For my situation (relapsed or intolerant), which of the standard options do you recommend and why?
- 11.Am I a candidate for Cladribine, Interferon alfa-2a/2b, Bezuclastinib, and what side effects should I expect?
- 12.How do the results of (Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis apply to someone like me?
- 13.For my situation (fit patients, especially mast cell leukaemia or high-risk sm-ahn), which of the standard options do you recommend and why?
- 14.Are there clinical trials I could join, for example of Avapritinib, Bezuclastinib, (Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis, Allogeneic stem cell transplantation?
- 15.Would a second opinion at a high-volume centre change anything, and can you help arrange it?
- 16.What supportive care (symptom control, nutrition, exercise, mental health, financial help) is available from the start?
- 17.I read that “The associated myeloid neoplasm, not the mast cells, now causes most deaths in SM-AHN”. How does that affect my plan?
- 18.I read that “Whether KIT inhibitors improve survival has not been shown in a randomised trial”. How does that affect my plan?
The words I may hear
- Molecular response (MMR, MR4, treatment-free remission): In chronic myeloid leukaemia, how far the leukaemia gene signal in the blood has fallen, measured in logs: a 1,000-fold drop is a major molecular response, a 10,000-fold drop (MR4) is 'deep'.
- Cytopenias and myelosuppression: The umbrella term for low blood counts of any kind (white cells, red cells, platelets) when treatment suppresses the bone marrow.
- Driver mutation: One of the few mutations in a tumour that actually causes it to grow.
Tests and results to bring
Diagnosis and risk assessment: Bone marrow biopsy and aspirate, KIT D816V allele burden, myeloid mutation panel, tryptase, imaging for organomegaly and bone lesions, MARS or IPSM score.
Biomarker results to ask for: C findings (cytopenias, liver dysfunction, hypoalbuminaemia, malabsorption, lytic bone lesions), Serum tryptase and KIT D816V allele burden (response and molecular remission), Mast cell percentage in marrow aspirate (20 percent defines mast cell leukaemia), SRSF2, ASXL1 and RUNX1 mutations; MARS and IPSM prognostic scores, Platelet count (avapritinib eligibility above 50 x 10^9/L), Molecular and morphological characterisation of the associated neoplasm.
Scans and tests linked to this cancer: Comprehensive genomic profiling, Histopathology & immunohistochemistry, Liquid biopsy (ctDNA).
Bring copies of scan reports, pathology and blood results, and a list of every medicine and supplement.
The treatments I may be offered
- Fit patients, especially mast cell leukaemia or high-risk SM-AHN: Allogeneic haematopoietic cell transplantation after response to a KIT inhibitor. (Allogeneic stem cell transplantation)
- First line: Avapritinib 200 mg daily when platelets are 50 x 10^9/L or more (EXPLORER, PATHFINDER, approved 2021); midostaurin as the alternative (approved 2017). (Avapritinib, Midostaurin, KIT, Small-molecule kinase inhibitors)
- Associated haematological neoplasm: Treat the neoplasm on its own merits (azacitidine for CMML or MDS, intensive chemotherapy for AML) alongside or after KIT inhibition. (Azacitidine, Midostaurin)
- Relapsed or intolerant: Switch between avapritinib and midostaurin; cladribine; interferon alfa; bezuclastinib in the Apex trial. (Cladribine, Interferon alfa-2a/2b, Bezuclastinib, (Apex) Bezuclastinib in Patients With Advanced Systemic Mastocytosis)
From the standard of care recorded for this cancer; which apply depends on your stage and biomarkers. Ask which the team recommends and why.