| Autor: |
Özlem Tüfekçi, Hale Ören, Fatma Demir Yenigürbüz, Salih Gözmen, Tuba Hilkay Karapınar, Gülersu İrken |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Turkish Journal of Hematology, Vol 32, Iss 2, Pp 175-179 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
1308-5263 |
| DOI: |
10.4274/tjh.2014.0034 |
| Popis: |
Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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