Knowledge Check

True or false: JAK2 V617F mutation is specific for polycythemia vera.

a
True
b
False
The mutation also occurs in other myeloproliferative neoplasms, though at lower frequency compared with polycythemia vera. For example, in essential thrombocythemia (ET) and primary myelofibrosis (PMF), the JAK2 V617F mutation frequency is estimated at 50% to 60%. The mutation can occur rarely in other hematologic malignancies such as myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), MDS/myeloproliferative neoplasm (MPN) overlap syndrome, and in half of the cases of refractory anemia with ringed sideroblasts associated with marked thrombocytosis.

True or false: JAK2 V617F mutation is sensitive for polycythemia vera.

a
True
The mutation occurs in over 95% of patients with polycythemia vera.
b
False

Sort the diseases according to whether they or not they are myeloproliferative neoplasms (MPN):

Chronic myelogenous leukemia
Chronic eosinophilic leukemia, NOS
Essential thrombocythemia
Acute myelogenous leukemia
Primary myelofibrosis
Myelodysplastic syndrome
Polycythemia vera
Chronic neutrophilic leukemia
Mastocytosis
MPN
Not MPN

Which of the following statement(s) is/are correct:

a
JAK2 V617F is a loss-of-function mutation
b
JAK2 V617F is a gain-of-function mutation
c
JAK2 V617F occurs in the pseudokinase domain of JAK2
Also called the JH2 domain.
d
JAK2 is a receptor tyrosine kinase
No, it is a non-receptor tyrosine kinase (i.e., a signaling intermediate).

A reminder of the location of the V617F mutation in the JH2 (pseudokinase domain) of JAK2:

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