Article
[Primary myelofibrosis with double mutation in U2AF1].
[Rinsho ketsueki] The Japanese journal of clinical hematology - 1 Jan 2024
Maeyama Keiko, Nagaharu Keiki, Ino Kazuko, Sugimoto Yuka, Tawara Isao, Kawakami Keiki
Abstract excerpt
A 47-year-old woman presented with subcutaneous hemorrhage. Blood tests revealed leukoerythroblastosis, anemia, and thrombocytopenia. Bone marrow biopsy led to a diagnosis of primary myelofibrosis (aaDIPSS, DIPSS-plus: intermediate-II risk). JAK2, CALR, and MPL mutations were not detected in peripheral blood, but targeted sequencing of bone marrow specimens revealed a double mutation (Q157R, S34F) in U2AF1....
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