A 40-year-old male presented with symptoms of anemia along with weight loss, night sweats, and low-grade fever.On examination, splenomegaly, petechiae, ecchymosis, lymphadenopathy was noted along with some features of poal hypeension.Lab findings revealed anemia, leukocytosis and thrombocytosis. Bone marrow aspiration reveals a dry tap. Bone marrow biopsy was taken and subjected to reticulin staining.. All of the following genes can be mutated in the above condition except: -: (A) JAK2, (B) CALR, (C) MPL, (D) ACTN3
Answer is D. This is a case of primary myelofibrosis. Primary myelofibrosis. Peripheral smear shows teardrop red blood cells (RBCs) and a leukoerythroblastic picture with nucleated RBC precursors and immature myeloid cells. Bone marrow biopsy from a patient with primary myelofibrosis shows extensive fibrosis which is confirmed by reticulin staining. Mutations in the JAK2, MPL, CALR, and TET2 genes are associated with most cases of primary myelofibrosis.