MDS/MPN

Question 1

What is an MDS/MPN disorder?

Answer 1

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.

Question 2

What disorders fall under this category according to WHO 2016?

Answer 2

CMML (chronic myelomonocytic leukemia)
Atypical CML BCR-ABL-ve 
Juvenile myelomonocytic leukemia (JMML)
MDS/MPN with ring sideroblasts and thrombocytosis 
MDS/MPN unclassifiable.

Question 3

What is CMML? Who does it affect?

Answer 3

An MDS/MPD.
Persistent monocytosis with dysplasia in 1 or more lineages.
Older people, 65-75yrs.

Question 4

What is CMML-1 v CMML2?

Answer 4

CMML1 - <10% blasts (or promonocytes) in BM

CMML2 - 10-19% blasts (or promonocytes) in BM or presence of auer rods.

Question 5

What cyto abs might we see in CMML?

What molecular mutations are commonly associated with CMML?

Answer 5

+8, -7/del(7q), 12p abnormality, i(17q).

RAS mutations in 40%.

Question 6

What is JMML? Who gets it?

Answer 6

Proliferation of granulocytes and monocytes.

Seen in children.

Question 7

What germline mutations are associated with JMML?

Answer 7

Mutations of NF1.

10-15% of cases accounted for by this group (NF1 muts confer a 200-500x increased risk of JMML)

Question 8

What abnormality is most commonly associated with JMML?

Answer 8

Monosomy 7

Question 9

What is the prognosis of JMML?

Answer 9

Poor.