Here, we report on a new pedigree with a germline ETV6 mutation in which the index patient and his father developed high hyperdiploid (HeH) ALL and polycythemia vera at age 13 and 51, respectively.
They include one patient with PV and +9p with three copies of JAK2 and two patients with MDS and JAK2 relocations: one with NF-E2, while the other patient with a TEL/ETV6 rearrangements also had tetrasomy for JAK2.