MDS/MPN Flashcards
What is an MDS/MPN disorder?
A disorder with some features of MDS and some features of MPD e.g. a proliferation of cells that may be dysplastic and there may be a concurrent cytopenia.
What disorders fall under this category according to WHO 2016?
CMML (chronic myelomonocytic leukemia) Atypical CML BCR-ABL-ve Juvenile myelomonocytic leukemia (JMML) MDS/MPN with ring sideroblasts and thrombocytosis MDS/MPN unclassifiable.
What is CMML? Who does it affect?
An MDS/MPD.
Persistent monocytosis with dysplasia in 1 or more lineages.
Older people, 65-75yrs.
What is CMML-1 v CMML2?
CMML1 - <10% blasts (or promonocytes) in BM
CMML2 - 10-19% blasts (or promonocytes) in BM or presence of auer rods.
What cyto abs might we see in CMML?
What molecular mutations are commonly associated with CMML?
+8, -7/del(7q), 12p abnormality, i(17q).
RAS mutations in 40%.
What is JMML? Who gets it?
Proliferation of granulocytes and monocytes.
Seen in children.
What germline mutations are associated with JMML?
Mutations of NF1.
10-15% of cases accounted for by this group (NF1 muts confer a 200-500x increased risk of JMML)
What abnormality is most commonly associated with JMML?
Monosomy 7
What is the prognosis of JMML?
Poor.