Essential thrombocytosis transformed AML with TP53 mutations and its clinical implications

Yang Si; Jiyuan Wang; Brett D Hambly; Yuli Wang; Yanfang Zhang; Shisan Bao

doi:10.1007/s12672-024-01665-y

Essential thrombocytosis transformed AML with TP53 mutations and its clinical implications

Discov Oncol. 2024 Dec 18;15(1):786. doi: 10.1007/s12672-024-01665-y.

Authors

Yang Si^#¹, Jiyuan Wang^#², Brett D Hambly³, Yuli Wang⁴, Yanfang Zhang⁵, Shisan Bao⁶

Affiliations

¹ Department of Hematology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
² Department of Organ Transplantation, Changzheng Hospital, Second Military Medical University, Shanghai, China.
³ Centre for Healthy Futures, Torrens University Australia, Sydney, NSW, Australia.
⁴ Department of Hematology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China. wangyuli23@163.com.
⁵ Department of Hematology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China. zhangyanfang20@163.com.
⁶ Department of Hematology, Shanghai Ninth People's Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China. profbao@hotmail.com.

^# Contributed equally.

PMID: 39692923
DOI: 10.1007/s12672-024-01665-y

Abstract

Essential thrombocytosis (ET) is a chronic myeloproliferative neoplasm. There is a rare possibility of its transformation from ET into acute myeloid leukemia (AML). While the TP53 mutation is a well-known risk factor for AML, limited research exists regarding ET patients who develop AML with TP53 mutations. Among three ET transformed AML patients, two exhibited TP53 mutations, with an increased number of AML cells. Conversely, the third ET patient who transformed to AML without TP53 mutations had a lower burden of AML cells. The patients with TP53 mutations had shorter survival times compared to that without mutations, in response to decitabine treatment. In contrast, the patient with ET transformed AML without TP53 mutations showed a better response to decitabine. The ET transformed AML without TP53 mutations patient exhibited a survival period exceeding 20 months. ET patients who develop AML with a high allelic burden of TP53 mutations may experience a more aggressive disease progression and severe complications compared to AML patient without TP53 mutations. Our report sheds light on the distinct clinical presentations of ET patients who develop AML, characterized by different TP53 mutations and varying therapeutic outcomes when treated with decitabine. However, further studies that include a larger quantity of samples are needed to elucidate the precise underlying molecular mechanisms involved in this process.

Keywords: Acute myeloid leukemia; Essential thrombocytosis; Prognosis; Transformation.