A 39-year-old woman presents to the office due to a 3-week history of increasing fatigue. She says that she feels less energetic than before and cannot complete the morning walks she previously liked to take. Physical exam reveals conjunctival pallor, hepatomegaly, and massive splenomegaly. Further evaluation reveals a gain-of-function mutation of a non-receptor tyrosine kinase protein in hematopoietic cells, leading to persistent activation of signal transducers and activators of transcription (STAT) proteins. This patient is most likely suffering from which of the following disorders?

Question

A 39-year-old woman presents to the office due to a 3-week history of increasing fatigue. She says that she feels less energetic than before and cannot complete the morning walks she previously liked to take. Physical exam reveals conjunctival pallor, hepatomegaly, and massive splenomegaly.   Further evaluation reveals a gain-of-function mutation of a non-receptor tyrosine kinase protein in hematopoietic cells, leading to persistent activation of signal transducers and activators of transcription (STAT) proteins.  This patient is most likely suffering from which of the following disorders?

Quizplus · Accepted Answer

Eductional Objective: The chronic myeloproliferative disorders (polycythemia vera, essential thrombocytosis, and primary myelofibrosis) often have a mutation in Janus kinase 2 (JAK2), a cytoplasmic tyrosine kinase.  This results in constitutive tyrosine kinase activity, and consequently, in the cytokine-independent activation of signal transducers and activators of transcription (STAT) proteins (JAK-STAT signaling pathway).

A 39-Year-Old Woman Presents to the Office Due to a 3-Week