MPN
Kliniek
Beoordelen met de Myeloproliferative-Neoplasm-Symptom-Assesment-Form- Total Symptom Score (MPN-SAF-TS)
The MPN-SAF TSS is a concise, valid, and accurate assessment of MPN symptom burden with demonstrated clinical utility in the largest prospective MPN symptom study to date. This new prospective scoring method may be used to assess MPN symptom burden in both clinical practice and trial settings.
Indeling * WHO 2022
Chronische eosinofiele leukemie (CEL NOS)
Juvenile myelomonocytic leukaemia
Myeloproliferatieve ziekte niet te klassificeren (MPN-U)
WHO 2022
Cytopenia definitions are harmonized for CCUS, MDS, and MDS/MPN; they include
Hb <13 g/dL(<7.8 mmol/L) in males and <12 g/dL (<7.2 mmol/l) in females for anaemia;
absolute neutrophil count <1.8 10E9/L for leukopenia;
platelets <150 10E9/L for thrombocytopenia.
While JAK2, CALR, and MPL mutations are considered driver events, mutations in other genes – particularly TET2, ASXL1, and DNMT3A – are found in over half of patients with MPN. Mutations affecting splicing regulators (SRSF2, SF3B1, U2AF1, ZRSR2) and other regulators of chromatin structure, epigenetic functions and cellular signaling (e.g., EZH2, IDH1, IDH2, CBL, KRAS, NRAS, STAG2, TP53) are less common. These additional mutations are more frequent in PMF and advanced disease compared to PV and ET, and some are known to correlate with a poorer prognostic risk (e.g., EZH2, IDH1, IDH2, SRSF2, U2AF1, and ASXL1 mutations in PMF).
Voorkomen van JAK2, CALR en cMPL mutaties in bcr-abl negatieve MPN
volgens WHO 2017:
JAK2-V617F JAK2-exon-12 CALR cMPL Triple-neg*
Polyc.Vera 95% 3% - - -
Ess.Trombocytose 50-60% - 30% 3% 12%
Prim.Myelofibrose 50-60% - 30% 8% 12%
*In geval van triple negativiteit kan mutatie-analyse van de volgende genen worden aangevraagd: ASXL1, TET2, IDH1, IDH2, SF3B1, EZH2 of SRSF2.