Work

Essential thrombocytosis transformed AML with TP53 mutations and its clinical implications

Year: 2024

Type: article

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. The new aspect of our current study is that AML transformed ET with TP53 mutation appears to have a worse prognosis than without TP53 mutations, partly due to a higher tumor load of white blood cells. There is a poor outcome for ET transformed AML with TP53 mutations despite the addition of demethylation therapy or other traditional chemotherapy. We hypothesise that TP53 mutations lead to a poor prognosis in ET transformed AML, although a clinical trial of arsenic trioxide may demonstrate an improvement in the response of the patients.

Source: Discover Oncology

DOI: 10.1007/s12672-024-01665-y

Authors: Yang Si, Jiyuan Wang, Brett D Hambly, Yuli Wang, Yanfang Zhang, Shisan Bao