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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| Format: | Article |
| Language: | English |
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Elsevier
2022-01-01
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| Series: | Leukemia Research Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213048922000358 |
| _version_ | 1817979291313373184 |
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| author | Adelaide Kwon Ibrahim Ibrahim Tri Le Jesse Manuel Jaso Olga Weinberg Franklin Fuda Weina Chen |
| author_facet | Adelaide Kwon Ibrahim Ibrahim Tri Le Jesse Manuel Jaso Olga Weinberg Franklin Fuda Weina Chen |
| author_sort | Adelaide Kwon |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T22:40:55Z |
| format | Article |
| id | doaj.art-595e979c8795482895868e15045f90a7 |
| institution | Directory Open Access Journal |
| issn | 2213-0489 |
| language | English |
| last_indexed | 2024-04-13T22:40:55Z |
| publishDate | 2022-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Leukemia Research Reports |
| spelling | doaj.art-595e979c8795482895868e15045f90a72022-12-22T02:26:37ZengElsevierLeukemia Research Reports2213-04892022-01-0117100323CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profileAdelaide Kwon0Ibrahim Ibrahim1Tri Le2Jesse Manuel Jaso3Olga Weinberg4Franklin Fuda5Weina Chen6Medical School, University of Texas Southwestern Medical Center at Dallas, TX, USADepartments of Internal Medicine/Division of Hematology and Oncology, University of Texas Southwestern Medical Center at Dallas, TX, USADepartments of Internal Medicine/Division of Hematology and Oncology, University of Texas Southwestern Medical Center at Dallas, TX, USADepartment of Pathology, University of Texas Southwestern Medical Center at Dallas, 2330 Inwood Rd, TX, 75390-9317 USADepartment of Pathology, University of Texas Southwestern Medical Center at Dallas, 2330 Inwood Rd, TX, 75390-9317 USADepartment of Pathology, University of Texas Southwestern Medical Center at Dallas, 2330 Inwood Rd, TX, 75390-9317 USADepartment of Pathology, University of Texas Southwestern Medical Center at Dallas, 2330 Inwood Rd, TX, 75390-9317 USA; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S2213048922000358CSF3RChronic myelomonocytic leukemiaChronic neutrophilic leukemiaAtypical chronic myeloid leukemia |
| spellingShingle | Adelaide Kwon Ibrahim Ibrahim Tri Le Jesse Manuel Jaso Olga Weinberg Franklin Fuda Weina Chen CSF3R T618I mutated chronic myelomonocytic leukemia: A proliferative subtype with a distinct mutational profile Leukemia Research Reports CSF3R Chronic myelomonocytic leukemia Chronic neutrophilic leukemia Atypical chronic myeloid leukemia |
| 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 | CSF3R Chronic myelomonocytic leukemia Chronic neutrophilic leukemia Atypical chronic myeloid leukemia |
| url | http://www.sciencedirect.com/science/article/pii/S2213048922000358 |
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