JAK2-negative acute monocytic leukemia with TET2 mutation in essential thrombocythemia with JAK2 mutation with literature review

Publication date: Available online 16 January 2020Source: Leukemia Research ReportsAuthor(s): Toshie Ogasawara, Kiyotaka Kawauchi, Takuya Ono, Kotaro Shide, Kazuya Shimoda, Naoki Mori, Hiroshi SakuraAbstractEssential thrombocythemia (ET) is an indolent myeloproliferative neoplasm (MPN) with a transformation to acute myeloid leukemia in <5% of patients. A 79-year-old man with JAK2V617F-positive ET exhibited leukocytosis with an increase in monoblastic cells, leading to a diagnosis of acute monoblastic and monocytic leukemia. Leukemic cells carried a TET2 mutation but not JAK2V617F mutation. We concluded that the TET2 mutation occurred in MPN-initiating cells and overcame JAK2-mutated cells. The absence of a JAK2 mutation in the leukemic cells in this case suggests the leukemia emerged from a JAK2-negative MPN cell clone carrying the TET2 mutation.
Source: Leukemia Research Reports - Category: Hematology Source Type: research