How is myelofibrosis diagnosed?

How is myelofibrosis diagnosed?

Myelofibrosis is among the multiplicity of neoplasms. And collectively this group of MPNs for short are three diseases. Polycythemia vera, essential thrombocythemia. And as you were asking about primary myelofibrosis. And these diseases are related, the way to diagnose myelofibrosis is a combination of looking at the clinical history, the symptoms associated with the patient, as well as histopathological diagnosis, including a biopsy. Particularly the bone marrow biopsy is the most important part of making the diagnosis of this rare condition, called primary myelofibrosis.

There are two diagnostic criteria that are similar, but the diagnostic criteria are established by the World Health Organization and the International Consensus Consortium, both coming in about 2022. And then these diagnostic criteria, it's important for us to take a look at the bone marrow biopsy to see if it's indicative of myelofibrosis, including increased secularity and increased amount of fibrosis as well.

But we will also be looking at the patient's blood for particular markers of interest, including common, driver mutations, so to say in these diseases, the common driver mutations associated with all these MPNs are the JAK2 V617F mutation, Calreticulin or CALR as well as MPL mutations.

There are a number of other helpful minor criteria for the diagnosis of myelofibrosis, which I'll refer to the diagnostic criteria, but some of them include leukocytosis and elevated lactate dehydrogenase level, as well as symptomatic splenomegaly.