AI Article Synopsis
- Triple-negative essential thrombocythemia (ET) is characterized by the absence of mutations in key genes (JAK2, CALR, and MPL) and can transform into acute myeloid leukemia, with cases of B-acute lymphoblastic leukemia (B-ALL) being rare.
- A case study revealed a patient diagnosed with B-ALL while already dealing with triple-negative ET, indicating a possible link between the two conditions.
- Whole exome sequencing showed 17 mutations, with 9 shared by both ET and B-ALL samples, and 8 unique to B-ALL, suggesting these 8 specific mutations may have contributed to the transformation from ET to B-ALL.
Article Abstract
Triple-negative essential thrombocythemia (ET) is a condition in which mutations in JAK2, CALR and MPL are all negative. Transformation to acute myeloid leukemia may occur during the course of ET, while B-acute lymphoblastic leukemia B-(ALL) is rare. We experienced a case diagnosed as B-ALL during the course of triple-negative ET. Notably, cytoreduction was required for the excessive increase in blood cells during the bone marrow recovery period after chemotherapies. Whole exome sequencing identified 17 somatic mutations: 9 were identified in both ET and B-ALL samples, while 8 were specific to B-ALL, suggesting that these 8 might have caused the transformation.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10258111 | PMC |
| http://dx.doi.org/10.2169/internalmedicine.0269-22 | DOI Listing |
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