MPL and TP53 Co-Mutated Primary Myelofibrosis in A 55-Year-Old Woman: A Rare Case Report

Primary myelofibrosis (PMF) is a rare myeloproliferative neoplasm typically diagnosed in patients over 65 years, characterized by bone marrow fibrosis, extramedullary hematopoiesis, and driver mutations such as MPL. We report case of a 55-year-old female who presented with easy fatiguability, low-grade fever, low back pain. Examination revealed pallor, angular stomatitis, Hepatosplenomegaly with investigations showing pancytopenia leucoerythroblastic peripheral smear, elevated LDH, and RPI O.4. BM biopsy- hypercellular marrow with fibrosis alongside MPL gene mutation and TP53 positivity. This case atypical presentation of PMF in 5th decade with dual MPL/TP53 mutations, highlighting diagnostic challenges, rapid progression risks, optimized risk stratification and management