Myeloid neoplasms with TP53 gene mutations represent a distinct category of hematologic diseases characterized by special clinical features, rapid disease progression, and poor prognosis, necessitating urgent optimization of clinical treatment regimens. Ph chromosome-negative myeloproliferative neoplasm (MPN) is a malignant myeloproliferative disorder originating from multiple hematopoietic stem cells, which primarily include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). This article analyzed two representative cases with TP53 gene mutations from Wuhan Central Hospital: Case 1 was a PV patient diagnosed in 2007 and maintained on oral hydroxyurea, progressed to acute myeloid leukemia (AML) in 2021, and was found to have TP53 gene mutations via next-generation sequencing; Case 2 was an ET patient diagnosed in 2019, who developed a TP53 missense mutations and transformed into myelodysplastic syndrome (MDS) in 2023 despite regular hydroxyurea therapy. TP53 gene mutations serve as a critical driver of disease progression from MPN to higher-risk malignancies, and early genetic testing and individualized treatment are needed in clinical practice.

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