A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia

TY - JOUR

T1 - A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia

AU - Toft-Petersen, Marie

AU - Kjeldsen, Eigil

AU - Nederby, Line

AU - Grønbæk, Kirsten

AU - Hokland, Peter

AU - Roug, Anne Stidsholt

PY - 2014/12/1

Y1 - 2014/12/1

N2 - We have identified a novel 7.7 Mb del(8)(q23.2q24.11) in a patient progressing to acute myeloid leukemia (AML) following a 12-year stable phase of chronic myelomonocytic leukemia (CMML). A surprisingly high JAK2+ allelic burden of 92% at the time of AML led us to delineate the molecular aberrations relevant for leukemogenesis. While a frameshift mutation in the TET2 gene was stably present throughout the course of disease the JAK2 mutation was acquired after initial diagnosis of CMML. At progression aCGH revealed del(8q)(q23.2q24.11) encompassing various cancer relevant genes of which RAD21 and CSMD3 are of particular interest.

AB - We have identified a novel 7.7 Mb del(8)(q23.2q24.11) in a patient progressing to acute myeloid leukemia (AML) following a 12-year stable phase of chronic myelomonocytic leukemia (CMML). A surprisingly high JAK2+ allelic burden of 92% at the time of AML led us to delineate the molecular aberrations relevant for leukemogenesis. While a frameshift mutation in the TET2 gene was stably present throughout the course of disease the JAK2 mutation was acquired after initial diagnosis of CMML. At progression aCGH revealed del(8q)(q23.2q24.11) encompassing various cancer relevant genes of which RAD21 and CSMD3 are of particular interest.

U2 - 10.1016/j.lrr.2014.09.002

DO - 10.1016/j.lrr.2014.09.002

M3 - Journal article

C2 - 25473623

SN - 2213-0489

VL - 3

SP - 94

EP - 97

JO - Leukemia Research Reports

JF - Leukemia Research Reports

IS - 2

ER -