What question did this study set out to answer?

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

March 15, 2026Open Access

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

Key Points

To describe a rare case of primary myelofibrosis in a younger patient with MPL and TP53 mutations.
Case report of a 55-year-old female presenting with symptoms of fatigue and low-grade fever.
Clinical examination and laboratory tests including BM biopsy and peripheral blood smear.
Analysis of mutations in MPL and TP53.
Patient diagnosed with primary myelofibrosis despite age-related typical diagnosis over 65 years.
Found dual mutations in MPL and TP53, indicating a challenging diagnosis.
Patient exhibited symptoms including easy fatiguability and hepatosplenomegaly, with laboratory-confirmed pancytopenia.

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

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Cite This Study

International Journal of Medical Science and Advanced Clinical Research (IJMACR) (Fri,) studied this question.

synapsesocial.com/papers/69b606d583145bc643d1d428 https://doi.org/https://doi.org/10.5281/zenodo.18995975

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