| Autor: |
George Mason, Rhian Aghajani, Brieanna Dance, Jad Othman, Linda Goodwin, William Stevenson, Naomi Mackinlay |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
eJHaem, Vol 5, Iss 2, Pp 397-402 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2688-6146 |
| DOI: |
10.1002/jha2.864 |
| Popis: |
Abstract Casitas B‐cell lineage (CBL) syndrome is a rare RASopathy known to predispose to CBL‐mutated juvenile myelomonocytic leukemia (JMML) in childhood. Adulthood acute myeloid leukemia arising out of a genetic aberrancies consistent with prior CBL‐mutated JMML has been twice previously described, but chronic myeloproliferative neoplasia has not. We present a case of progressive myeloproliferative neoplasm in adulthood in the context of CBL syndrome alongside a novel CSF3R variant. We also review pathogenic splice‐site mutations in CBL‐mutated JMML. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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