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B-cell acute lymphoblastic leukemia in patients with germline RUNX1 mutations
| Content Provider | Scilit |
|---|---|
| Author | Six, Kathryn A. Gerdemann, Ulrike Brown, Anna L. Place, Andrew E. Cantor, Alan B. Kutny, Matthew A. Avagyan, Serine |
| Copyright Year | 2021 |
| Description | Germline RUNX1 mutations underlie a syndrome, RUNX1-familial platelet disorder (RUNX1-FPD), characterized by bleeding symptoms that result from quantitative and/or qualitative defect in platelets and a significantly increased risk for developing hematologic malignancies. Myeloid neoplasms are the most commonly diagnosed hematologic malignancies, followed by lymphoid malignancies of T-cell origin. Here, we describe the first 2 cases of B-cell acute lymphoblastic leukemia (B-ALL) in patients with confirmed germline RUNX1 mutations. While 1 of the patients had a known diagnosis of RUNX1-FPD with a RUNX1 p.P240Hfs mutation, the other was the index patient of a kindred with a novel RUNX1 variant, RUNX1 c.587C>T (p.T196I), noted on a targeted genetic testing of the B-ALL diagnostic sample. We discuss the clinical course, treatment approaches, and the outcome for the 2 patients. Additionally, we describe transient resolution of the mild thrombocytopenia and bleeding symptoms during therapy, as well as the finding of clonal hematopoiesis with a TET2 mutant clone in 1 of the patients. It is critical to consider testing for germline RUNX1 mutations in patients presenting with B-ALL who have a personal or family history of thrombocytopenia, bleeding symptoms, or RUNX1 variants identified on genetic testing at diagnosis. |
| Related Links | https://ashpublications.org/bloodadvances/article-pdf/5/16/3199/1818953/advancesadv2021004653.pdf |
| Ending Page | 3202 |
| Page Count | 4 |
| Starting Page | 3199 |
| DOI | 10.1182/bloodadvances.2021004653 |
| Journal | Blood advances |
| Issue Number | 16 |
| Volume Number | 5 |
| Language | English |
| Publisher | American Society of Hematology |
| Publisher Date | 2021-08-23 |
| Access Restriction | Open |
| Subject Keyword | Hematology Germline Runx1 Bleeding Symptoms Malignancies Platelet Hematologic Mutations Treatment Journal: Blood advances (Vol- 126, Issue- 16) |
| Content Type | Text |
| Resource Type | Article |
