Prevalence and clinical correlates ofJAK2mutations in Down syndrome acute lymphoblastic leukaemia
| Autor: | Andrea Pession, Karen R. Rabin, Giuseppe Basso, Meenakshi Devidas, Shai Izraeli, Cassia L. Rye, Amos Gaikwad, Nyla A. Heerema, Sharon E. Plon, Andrew J. Carroll |
|---|---|
| Přispěvatelé: | Gaikwad A., Rye C.L., Devidas M., Heerema NA., Carroll AJ., Izraeli S., Plon SE., Basso G., Pession A., Rabin KR. |
| Rok vydání: | 2009 |
| Předmět: |
Male
medicine.medical_specialty Down syndrome Aneuploidy Kaplan-Meier Estimate Biology medicine.disease_cause Gastroenterology Article Disease-Free Survival Sex Factors hemic and lymphatic diseases Acute lymphocytic leukemia Internal medicine medicine Humans Point Mutation Child Mutation Hematology Point mutation Age Factors Sequence Analysis DNA Janus Kinase 2 Precursor Cell Lymphoblastic Leukemia-Lymphoma medicine.disease Diploidy Enzyme Activation Child Preschool Immunology Hyperdiploidy Down Syndrome Trisomy |
| Zdroj: | British Journal of Haematology. 144:930-932 |
| ISSN: | 1365-2141 0007-1048 |
| DOI: | 10.1111/j.1365-2141.2008.07552.x |
| Popis: | Recurrent, prognostically significant chromosomal abnormalities occur in approximately 75% of paediatric acute lymphoblastic leukaemia (ALL), but only infrequently in children with Down syndrome (DS) and ALL. Recently, novel somatic activating mutations in the gene Janus kinase 2 (JAK2) were reported in 18% of DS ALL. Here we report identification and clinical correlates of JAK2 mutations in an independent cohort. JAK2 activating mutations occurred in 10/53 DS ALL cases (18.9%). Mutations were overrepresented in males (P < 0.03), occurred once in association with high hyperdiploidy and were not significantly correlated with age, initial white blood count, or event-free survival. Our results confirm the significance of JAK-STAT pathway activation in DS ALL. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text