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

• Main Authors: Marie Toft-Petersen, Eigil Kjeldsen, Line Nederby, Kirsten Grønbæk, Peter Hokland, Anne Stidsholt Roug
• Format: Article
• Language: English
• Published: Elsevier 2014-01-01
• Series: Leukemia Research Reports
• Subjects: del(8q); CMML; TET2; JAK2; Transformation
• Online Access: http://www.sciencedirect.com/science/article/pii/S221304891400020X

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.