CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile

Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm characterized by sustained monocytosis and mutations in TET2, ASXL1, SRSF2, SETBP1, NRAS, and KRAS. We describe a rare case of CSF3R T618I mutated CMML that has a proliferative phenotype, myelodysplasia, and additional mutations in...

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Autores principales: Kwon, Adelaide, Ibrahim, Ibrahim, Le, Tri, Jaso, Jesse Manuel, Weinberg, Olga, Fuda, Franklin, Chen, Weina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108757/
https://www.ncbi.nlm.nih.gov/pubmed/35586707
http://dx.doi.org/10.1016/j.lrr.2022.100323
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author Kwon, Adelaide
Ibrahim, Ibrahim
Le, Tri
Jaso, Jesse Manuel
Weinberg, Olga
Fuda, Franklin
Chen, Weina
author_facet Kwon, Adelaide
Ibrahim, Ibrahim
Le, Tri
Jaso, Jesse Manuel
Weinberg, Olga
Fuda, Franklin
Chen, Weina
author_sort Kwon, Adelaide
collection PubMed
description Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm characterized by sustained monocytosis and mutations in TET2, ASXL1, SRSF2, SETBP1, NRAS, and KRAS. We describe a rare case of CSF3R T618I mutated CMML that has a proliferative phenotype, myelodysplasia, and additional mutations in ASXL1, SETBP1, KRAS, and PTPN11. Comparing the clinicopathologic features of this case to previously reported cases of CSF3R T618I mutated CMML and CSF3R non-T618I mutated CMML, CSF3R T618I seems to define a unique proliferative subtype of CMML with a distinct mutational profile. The diagnostic challenges and molecular pathogenesis associated with this case are also briefly discussed.
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spelling pubmed-91087572022-05-17 CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile Kwon, Adelaide Ibrahim, Ibrahim Le, Tri Jaso, Jesse Manuel Weinberg, Olga Fuda, Franklin Chen, Weina Leuk Res Rep Article Chronic myelomonocytic leukemia (CMML) is a clonal myeloid neoplasm characterized by sustained monocytosis and mutations in TET2, ASXL1, SRSF2, SETBP1, NRAS, and KRAS. We describe a rare case of CSF3R T618I mutated CMML that has a proliferative phenotype, myelodysplasia, and additional mutations in ASXL1, SETBP1, KRAS, and PTPN11. Comparing the clinicopathologic features of this case to previously reported cases of CSF3R T618I mutated CMML and CSF3R non-T618I mutated CMML, CSF3R T618I seems to define a unique proliferative subtype of CMML with a distinct mutational profile. The diagnostic challenges and molecular pathogenesis associated with this case are also briefly discussed. Elsevier 2022-05-06 /pmc/articles/PMC9108757/ /pubmed/35586707 http://dx.doi.org/10.1016/j.lrr.2022.100323 Text en © 2022 The Authors. Published by Elsevier Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Kwon, Adelaide
Ibrahim, Ibrahim
Le, Tri
Jaso, Jesse Manuel
Weinberg, Olga
Fuda, Franklin
Chen, Weina
CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile
title CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile
title_full CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile
title_fullStr CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile
title_full_unstemmed CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile
title_short CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile
title_sort csf3r t618i mutated chronic myelomonocytic leukemia: a proliferative subtype with a distinct mutational profile
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9108757/
https://www.ncbi.nlm.nih.gov/pubmed/35586707
http://dx.doi.org/10.1016/j.lrr.2022.100323
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