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

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...

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Autores principales: Toft-Petersen, Marie, Kjeldsen, Eigil, Nederby, Line, Grønbæk, Kirsten, Hokland, Peter, Roug, Anne Stidsholt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4250842/
https://www.ncbi.nlm.nih.gov/pubmed/25473623
http://dx.doi.org/10.1016/j.lrr.2014.09.002
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author Toft-Petersen, Marie
Kjeldsen, Eigil
Nederby, Line
Grønbæk, Kirsten
Hokland, Peter
Roug, Anne Stidsholt
author_facet Toft-Petersen, Marie
Kjeldsen, Eigil
Nederby, Line
Grønbæk, Kirsten
Hokland, Peter
Roug, Anne Stidsholt
author_sort Toft-Petersen, Marie
collection PubMed
description 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.
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spelling pubmed-42508422014-12-03 A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia Toft-Petersen, Marie Kjeldsen, Eigil Nederby, Line Grønbæk, Kirsten Hokland, Peter Roug, Anne Stidsholt Leuk Res Rep Case Report 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. Elsevier 2014-11-13 /pmc/articles/PMC4250842/ /pubmed/25473623 http://dx.doi.org/10.1016/j.lrr.2014.09.002 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Case Report
Toft-Petersen, Marie
Kjeldsen, Eigil
Nederby, Line
Grønbæk, Kirsten
Hokland, Peter
Roug, Anne Stidsholt
A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia
title A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia
title_full A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia
title_fullStr A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia
title_full_unstemmed A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia
title_short A novel del(8)(q23.2q24.11) contributing to disease progression in a case of JAK2/TET2 double mutated chronic myelomonocytic leukemia
title_sort novel del(8)(q23.2q24.11) contributing to disease progression in a case of jak2/tet2 double mutated chronic myelomonocytic leukemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4250842/
https://www.ncbi.nlm.nih.gov/pubmed/25473623
http://dx.doi.org/10.1016/j.lrr.2014.09.002
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