RUNX1 Mutations in Inherited and Sporadic Leukemia
RUNX1 is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in RUNX1 are usually secondary events, whereas in FPD/AML they are...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2017-12-01
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| Series: | Frontiers in Cell and Developmental Biology |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/article/10.3389/fcell.2017.00111/full |
| _version_ | 1818196347010940928 |
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| author | Dana C. Bellissimo Nancy A. Speck |
| author_facet | Dana C. Bellissimo Nancy A. Speck |
| author_sort | Dana C. Bellissimo |
| collection | DOAJ |
| description | RUNX1 is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in RUNX1 are usually secondary events, whereas in FPD/AML they are initiating events. Here we will describe mutations in RUNX1 in sporadic AML and in FPD/AML, discuss the mechanisms by which inherited mutations in RUNX1 could elevate the risk of AML in FPD/AML individuals, and speculate on why mutations in RUNX1 are rarely, if ever, the first event in sporadic AML. |
| first_indexed | 2024-12-12T01:32:38Z |
| format | Article |
| id | doaj.art-b4909ba2eaf74ff1bc1202b491a835f6 |
| institution | Directory Open Access Journal |
| issn | 2296-634X |
| language | English |
| last_indexed | 2024-12-12T01:32:38Z |
| publishDate | 2017-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Cell and Developmental Biology |
| spelling | doaj.art-b4909ba2eaf74ff1bc1202b491a835f62022-12-22T00:42:56ZengFrontiers Media S.A.Frontiers in Cell and Developmental Biology2296-634X2017-12-01510.3389/fcell.2017.00111311562RUNX1 Mutations in Inherited and Sporadic LeukemiaDana C. BellissimoNancy A. SpeckRUNX1 is a recurrently mutated gene in sporadic myelodysplastic syndrome and leukemia. Inherited mutations in RUNX1 cause familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML). In sporadic AML, mutations in RUNX1 are usually secondary events, whereas in FPD/AML they are initiating events. Here we will describe mutations in RUNX1 in sporadic AML and in FPD/AML, discuss the mechanisms by which inherited mutations in RUNX1 could elevate the risk of AML in FPD/AML individuals, and speculate on why mutations in RUNX1 are rarely, if ever, the first event in sporadic AML.http://journal.frontiersin.org/article/10.3389/fcell.2017.00111/fullRUNX1leukemiamyeloid neoplasmsleukemia predispositionfamilial platelet disorder with predisposition for acute myeloid leukemiapre-leukemia |
| spellingShingle | Dana C. Bellissimo Nancy A. Speck RUNX1 Mutations in Inherited and Sporadic Leukemia Frontiers in Cell and Developmental Biology RUNX1 leukemia myeloid neoplasms leukemia predisposition familial platelet disorder with predisposition for acute myeloid leukemia pre-leukemia |
| title | RUNX1 Mutations in Inherited and Sporadic Leukemia |
| title_full | RUNX1 Mutations in Inherited and Sporadic Leukemia |
| title_fullStr | RUNX1 Mutations in Inherited and Sporadic Leukemia |
| title_full_unstemmed | RUNX1 Mutations in Inherited and Sporadic Leukemia |
| title_short | RUNX1 Mutations in Inherited and Sporadic Leukemia |
| title_sort | runx1 mutations in inherited and sporadic leukemia |
| topic | RUNX1 leukemia myeloid neoplasms leukemia predisposition familial platelet disorder with predisposition for acute myeloid leukemia pre-leukemia |
| url | http://journal.frontiersin.org/article/10.3389/fcell.2017.00111/full |
| work_keys_str_mv | AT danacbellissimo runx1mutationsininheritedandsporadicleukemia AT nancyaspeck runx1mutationsininheritedandsporadicleukemia |