What question did this study set out to answer?

To present a rare case of primary myelofibrosis with MPL and TP53 mutations in a younger patient.

March 15, 2026Open Access

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

Key Points

To present a rare case of primary myelofibrosis with MPL and TP53 mutations in a younger patient.
Case report of a 55-year-old woman with primary myelofibrosis.
Clinical examination and laboratory investigations were conducted.
Bone marrow biopsy revealed the presence of MPL and TP53 mutations.
Patient presented with symptoms including easy fatiguability and low-grade fever.
Investigations showed pancytopenia and leucoerythroblastic features.
Bone marrow biopsy indicated hypercellular marrow with fibrosis.

Abstract

Abstract 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

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

Key Points

Abstract

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