@article{Costa Villela_Vasconcelos Gouveia_de Castro Resende Franco_Zamperlini_Shimoda Ikeuti_Lopes_2021, title={Juvenile Myelomonocytic Leukemia and other myelodysplastic/myeloproliferative neoplasms}, volume={2}, url={https://www.jbmtct.com.br/seer/index.php/jbmtct/article/view/128}, DOI={10.46765/2675-374X.2021v2n4p128}, abstractNote={<p class="P68B1DB1-Normal2" style="text-align: justify; line-height: 200%;"><span lang="EN-US" style="font-family: ’Times New Roman’,serif; text-decoration: none; text-underline: none;">Juvenile Myelomonocytic Leukemia (JMML) is a clonal hematopoietic disorder that usually occurs in early childhood, characterized by hyperactivation of the RAS signaling pathway.</span> <span lang="EN-US" style="font-family: ’Times New Roman’,serif; text-decoration: none; text-underline: none;">About 90% of patients have mutations in 1 of 5 genes (PTPN11, NRAS, KRAS, NF1, CBL) that define genetically and clinically distinct subtypes of the disease, with a highly variable clinical course. Allogeneic hematopoietic stem cell transplantation (HSCT) remains the therapy of choice for most patients with JMML, although children with CBL mutations and few of those with N-RAS mutations may have spontaneous resolution of hematologic abnormalities. The results of HSCT in patients with JMML have progressively improved over time, but relapse is still an important cause of treatment failure. </span></p>}, number={4}, journal={JOURNAL OF BONE MARROW TRANSPLANTATION AND CELLULAR THERAPY}, author={Costa Villela, Neysimelia and Vasconcelos Gouveia, Roseane and de Castro Resende Franco, Simone and Zamperlini, Gustavo and Shimoda Ikeuti, Patrícia and Lopes, Luiz Fernando}, year={2021}, month={Nov.}, pages={128} }