JAK2 V617F

Tumors Secrete Erythropoietin EPO⬆️ HCC RCC Hemangioblastoma Uterine fibroid Pheo Differentiate from Primary Polycythemia EPO⬇️ PCV = JAK2V617F Primary congenital = EPO receptor mut EPO⬆️ Chuvash = VHL Hb mut high O2 affinity [Gangat.Leuk.21.] https://t.co/BGi0311YmG (@AaronGoodman33)

Tumors Secrete Erythropoietin EPO⬆️ HCC RCC Hemangioblastoma Uterine leiomyomata Pheochromocytoma Differentiate from Primary Polycythemias EPO⬇️ PCV = JAK2 V617F or exon 12 Primary congenital = EPO receptor mut EPO⬆️ Chuvash = VHL Hb mut with high O2 affinity 2,3 BPG def (@AaronGoodman33)

Tumors Secrete Erythropoietin! EPO⬆️ HCC RCC Hemangioblastoma Uterine leiomyomata Pheochromocytoma Differentiate from Primary Polycythemias EPO⬇️ PCV = JAK2 V617F or exon 12 Primary congenital = EPO receptor mut EPO⬆️ Chuvash = VHL Hb mut with high O2 affinity 2,3 BPG def (@AaronGoodman33)

Great summary! @AaronGoodman33 One addition for JAK2 mutation JAK2 R683G = Ph-like ALL (~50% of CRLF2 rearranged ALL, a subset of Ph-like ALL have JAK2 mutation, most commonly R683G, never V617F) And yes JAK fusions can also occur in Ph-like ALL #leusm (@NitinJainMD)

#ASH20 I agree this was very nice work! And important to stress AND the measurement of growth rate. It is well known JAK2 V617F mutations can occur years before diagnosis so early detection alone is not enough. #MPNsm #leusm (@TaylorJ_MD)

#ASH20 #leusm Marinaccio: Used CRISPR KO of tumor suppressors in JAK2V617F transgenic mice, ultimately finding Stk11 loss leads to transformation by stabilizing HIF1a. (@hemedoc)