Mayank PANDEY, Tuphan Kanti DOLAI, Kaustav GHOSH
Introduction: Myelodysplastic syndrome with fibrosis (MDS-F) is a rare and biologically aggressive subtype of myelodysplastic syndrome associated with severe cytopenias, poor prognosis, and increased risk of progression to acute myeloid leukemia. The coexistence of TP53 mutation further confers adverse disease biology, therapeutic resistance, and inferior survival outcomes. Occurrence of TP53-mutated MDS-F in young adults is exceptionally uncommon and poses significant diagnostic and therapeutic challenges.
Case presentation: A 22-year-old female presented with transfusion-dependent pancytopenia and progressive pallor. Bone marrow aspiration resulted in a dry tap, while trephine biopsy revealed markedly hypercellular marrow with dysplasia involving erythroid precursors and megakaryocytes and grade 2 reticulin fibrosis. Immunophenotyping identified approximately 5% CD117-positive myeloid precursors. Cytogenetic analysis showed a normal female karyotype, whereas next-generation sequencing detected a TP53 exon 5 mutation, c.536A>G (p.His179Arg), with variant allele frequency of 22.6%. The patient was diagnosed as MDS-F, and classified as moderate high risk according to the IPSS-M. She received azacitidine therapy and achieved complete remission with bilineage recovery after four cycles, which subsequently deepened to complete remission after six cycles, following which she was planned for allogeneic hematopoietic stem cell transplantation.
Conclusion: This case highlights the rare occurrence of TP53-mutated MDS-F in a very young adult and demonstrates that azacitidine can induce meaningful hematologic remission despite adverse molecular and morphologic features. Early molecular profiling and timely referral for allogeneic transplantation remain essential in such high-risk disease.
Keywords: Myelodysplastic syndrome; TP53 mutation; Fibrosis; Azacitidine; Hematopoietic stem cell transplantation
https://doi.org/10.59854/dhrrh.2026.4.3.119
Cite this article
Pandey M., Dolai T.K., Ghosh K., TP53-Mutated Myelodysplastic Syndrome with Bone Marrow Fibrosis in a Young Adult: A Rare Diagnostic and Therapeutic Challenge. DHRRH, 2026, 6(2), https://doi.org/10.59854/dhrrh.2026.4.3.119
