Genetically Informed Therapy in Leukemia
Menée sur 27 patients atteints d'une leucémie chronique à neutrophiles ou d'une leucémie myéloïde chronique atypique, cette étude identifie la présence fréquente de mutations du gène CSF3R
What can we learn from the study of rare diseases? A lot. Chronic myeloid leukemia (CML) occurs in 3 in 100,000 persons, yet it is perhaps the best example of “bench to bedside” medicine in oncology. The discovery of the signature BCR-ABL translocation found in all CML ushered in an era of molecular diagnostics and targeted therapy with tyrosine kinase inhibitors, with treatment implications beyond this rare disease. Similarly, research on the other rare myeloproliferative neoplasms led to the discovery and potential therapeutic targeting of the JAK2 kinase mutation...
New England Journal of Medicine , éditorial, 2012