Myeloproliferative neoplasms

At diagnosis:

 

Disease subtype

 

MPN

CML

Morphology

Blast count / megakaryocytes

Iron stain

Blast count / megakaryocytes

Basophilia

Flow cytometry

If blasts > 5%

If blasts > 5%

FISH

MPN panel if molecular studies negative

BCR-ABL1

Karyotype

 

t(9;22)

Additional abnormalities

Molecular genetics

JAK2 V617F mutation

If JAK2 V617F mutation not detected:

·       JAK2 exon 12 mutation analysis (suspected PV)

·       CALR exon 9 and MPL exon 10 mutation analysis (suspected ET or PMF)

KIT D816V mutation analysis (suspected systemic mastocytosis)

FIP1L1-PDGFRA

BCR-ABL1 to exclude CML (if requested)

BCR-ABL1

BM histology

Cellularity

Megakaryocyte morphology

Fibrosis

CD34/ CD117

Cellularity

Megakaryocyte morphology

Fibrosis

CD34/ CD117

 

At MRD*/ response evaluation**:

 

Disease subtype

 

MPN

CML

Morphology

*Blood cell counts

* Blood cell counts

* Basophilia / megakaryocytes

Flow cytometry

N/A

N/A

FISH

N/A

**BCR-ABL1

Karyotype

N/A

**t(9;22), additional abnormalities

Molecular genetics

N/A

** BCR-ABL1 E13A2/E14A2 transcript quantification

For rare / unusual BCR-ABL1 fusion transcript analysis, samples are sent to Imperial Molecular Pathology Laboratory

BM histology

N/A

N/A

 

At transformation; acceleration phase/blast phase:

 

Disease subtype

 

MPN

CML

Morphology

Blast count

Dysplasia

Blast count

 

Flow cytometry

If blast > 20%

Blast phenotype

FISH

N/A

N/A

Karyotype

If blast > 20%

t(9;22), (additional) abnormalities

Molecular genetics

N/A

N/A

BM histology

Fibrosis

CD34 / CD117

Fibrosis

CD34 / CD117