Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations
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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2023-12-01
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| Series: | Platelets |
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| Online Access: | http://dx.doi.org/10.1080/09537104.2023.2176167 |
| _version_ | 1797684149240201216 |
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| author | Jing Wang Wenjing Fu Wenqiang Bao Wenyu Gong Shiyun Xu Chun Ling Qichuan Jin Qiguo Zhang |
| author_facet | Jing Wang Wenjing Fu Wenqiang Bao Wenyu Gong Shiyun Xu Chun Ling Qichuan Jin Qiguo Zhang |
| author_sort | Jing Wang |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-12T00:25:19Z |
| format | Article |
| id | doaj.art-8d7c1b944e0f42ebb3ef9063e0f11530 |
| institution | Directory Open Access Journal |
| issn | 0953-7104 1369-1635 |
| language | English |
| last_indexed | 2024-03-12T00:25:19Z |
| publishDate | 2023-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Platelets |
| spelling | doaj.art-8d7c1b944e0f42ebb3ef9063e0f115302023-09-15T10:38:11ZengTaylor & Francis GroupPlatelets0953-71041369-16352023-12-0134110.1080/09537104.2023.21761672176167Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutationsJing Wang0Wenjing Fu1Wenqiang Bao2Wenyu Gong3Shiyun Xu4Chun Ling5Qichuan Jin6Qiguo Zhang7Yizheng Hospital of Nanjing Drum Tower Hospital GroupNanjing Medical UniversityChuzhou Hospital affiliated to Anhui Medical UniversityChuzhou Hospital affiliated to Anhui Medical UniversityChuzhou Hospital affiliated to Anhui Medical UniversityChuzhou Hospital affiliated to Anhui Medical UniversityChuzhou Hospital affiliated to Anhui Medical UniversityNanjing Medical UniversityEssential 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.http://dx.doi.org/10.1080/09537104.2023.2176167asxl1calrmplmyeloproliferative neoplasm (mpn)next-generationsequencing (ngs) |
| spellingShingle | Jing Wang Wenjing Fu Wenqiang Bao Wenyu Gong Shiyun Xu Chun Ling Qichuan Jin Qiguo Zhang Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations Platelets asxl1 calr mpl myeloproliferative neoplasm (mpn) next-generationsequencing (ngs) |
| title | Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations |
| title_full | Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations |
| title_fullStr | Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations |
| title_full_unstemmed | Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations |
| title_short | Genomics of clonal evolution in a rare essential thrombocythemia with coexisting Type 2 CALR and MPL S204P mutations |
| title_sort | genomics of clonal evolution in a rare essential thrombocythemia with coexisting type 2 calr and mpl s204p mutations |
| topic | asxl1 calr mpl myeloproliferative neoplasm (mpn) next-generationsequencing (ngs) |
| url | http://dx.doi.org/10.1080/09537104.2023.2176167 |
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