AI Article Synopsis
- Essential thrombocythemia (ET) with double driver mutations, such as MPL and CALR, is rare, and this study presents a unique case of a patient with both MPL S204P and Type 2 CALR mutations.
- The patient's ET progressed to an accelerated phase just 3.5 months after diagnosis, during which the CALR mutation disappeared and new mutations, including ASXL1 and ETV6, emerged.
- This case emphasizes the importance of using next-generation sequencing (NGS) to screen for additional mutations in ET patients, as it can provide crucial insights into prognosis, especially during disease progression.
Article Abstract
Essential thrombocythemia (ET) with double driver mutations is a rare disease. ET patients with both MPL and Type 1 CALR mutations have been reported. Here, we report the first case of an ET patient with both MPL S204P and Type 2 CALR mutations and a summary of our literature review findings. In the patient whose case is reported here, the disease progressed to an accelerated phase 3.5 months after diagnosis. CALR mutation disappeared and new mutations emerged as the disease progressed, such as ASXL1, CBL, ETV6, and PTPN11 mutations. This case highlights that screening for additional mutations using NGS should be considered in patients with ET to assess the prognosis, especially as the disease progresses.
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| http://dx.doi.org/10.1080/09537104.2023.2176167 | DOI Listing |
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