Article
Novel drivers and modifiers of MPL-dependent oncogenic transformation identified by deep mutational scanning.
Blood - 23 Jan 2020
Bridgford Jessica L, Lee Su Min, Lee Christine M M, Guglielmelli Paola, Rumi Elisa, Pietra Daniela, Wilcox Stephen, Chhabra Yash, Rubin Alan F, Cazzola Mario, Vannucchi Alessandro M, Brooks Andrew J, Call Matthew E, Call Melissa J
Abstract excerpt
The single transmembrane domain (TMD) of the human thrombopoietin receptor (TpoR/myeloproliferative leukemia [MPL] protein), encoded by exon 10 of the MPL gene, is a hotspot for somatic mutations associated with myeloproliferative neoplasms (MPNs). Approximately 6% and 14% of JAK2 V617F- essential thrombocythemia and primary myelofibrosis patients, respectively, have "canonical" MPL exon 10 driver mutations...
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