AI Article Synopsis
- Hereditary thrombocytosis (HT) is a rare genetic disorder that has symptoms similar to essential thrombocythemia, a more common blood condition.
- A study of 933 patients with persistent high platelet counts found various mutations related to HT, including several in the MPL gene, which could be significant causes of the disorder.
- The research suggests screening triple-negative patients for specific MPL mutations and highlights the importance of accurate diagnosis to prevent unnecessary treatments.
Article Abstract
Hereditary thrombocytosis (HT) is a rare inherited disorder with clinical features resembling those of sporadic essential thrombocythemia. This study included 933 patients with persistent isolated thrombocytosis for whom secondary reactive causes were excluded. Of 933 patients screened, 567 were JAK2-mutated, 255 CALR-mutated, 41 MPL-mutated, 2 double-mutated, and 68 were triple-negative. Two patients carried germline non-canonical mutations in exon 10: MPL W515* and MPL V501A. One triple-negative patient carried another germline non-canonical MPL mutation outside exon 10: MPL R102P. As germline MPL mutations may be underlying causes of HT, we recommend screening patients with triple-negative isolated thrombocytosis for non-canonical MPL mutations. Although clear evidence concerning HT treatment is still lacking, individuals with HT should probably be excluded from cytoreductive treatment. Thus, an accurate diagnosis is pivotal in avoiding unnecessary treatments.
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| http://dx.doi.org/10.1016/j.exphem.2023.10.005 | DOI Listing |
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