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Current Treatment of Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia (JMML) is a rare pediatric leukemia characterized by mutations in five canonical RAS pathway genes. The diagnosis is made by typical clinical and hematological findings associated with a compatible mutation. Although this is sufficient for clinical decision-making in...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305558/ https://www.ncbi.nlm.nih.gov/pubmed/34300250 http://dx.doi.org/10.3390/jcm10143084 |
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author | Mayerhofer, Christina Niemeyer, Charlotte M. Flotho, Christian |
author_facet | Mayerhofer, Christina Niemeyer, Charlotte M. Flotho, Christian |
author_sort | Mayerhofer, Christina |
collection | PubMed |
description | Juvenile myelomonocytic leukemia (JMML) is a rare pediatric leukemia characterized by mutations in five canonical RAS pathway genes. The diagnosis is made by typical clinical and hematological findings associated with a compatible mutation. Although this is sufficient for clinical decision-making in most JMML cases, more in-depth analysis can include DNA methylation class and panel sequencing analysis for secondary mutations. NRAS-initiated JMML is heterogeneous and adequate management ranges from watchful waiting to allogeneic hematopoietic stem cell transplantation (HSCT). Upfront azacitidine in KRAS patients can achieve long-term remissions without HSCT; if HSCT is required, a less toxic preparative regimen is recommended. Germline CBL patients often experience spontaneous resolution of the leukemia or exhibit stable mixed chimerism after HSCT. JMML driven by PTPN11 or NF1 is often rapidly progressive, requires swift HSCT and may benefit from pretransplant therapy with azacitidine. Because graft-versus-leukemia alloimmunity is central to cure high risk patients, the immunosuppressive regimen should be discontinued early after HSCT. |
format | Online Article Text |
id | pubmed-8305558 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-83055582021-07-25 Current Treatment of Juvenile Myelomonocytic Leukemia Mayerhofer, Christina Niemeyer, Charlotte M. Flotho, Christian J Clin Med Review Juvenile myelomonocytic leukemia (JMML) is a rare pediatric leukemia characterized by mutations in five canonical RAS pathway genes. The diagnosis is made by typical clinical and hematological findings associated with a compatible mutation. Although this is sufficient for clinical decision-making in most JMML cases, more in-depth analysis can include DNA methylation class and panel sequencing analysis for secondary mutations. NRAS-initiated JMML is heterogeneous and adequate management ranges from watchful waiting to allogeneic hematopoietic stem cell transplantation (HSCT). Upfront azacitidine in KRAS patients can achieve long-term remissions without HSCT; if HSCT is required, a less toxic preparative regimen is recommended. Germline CBL patients often experience spontaneous resolution of the leukemia or exhibit stable mixed chimerism after HSCT. JMML driven by PTPN11 or NF1 is often rapidly progressive, requires swift HSCT and may benefit from pretransplant therapy with azacitidine. Because graft-versus-leukemia alloimmunity is central to cure high risk patients, the immunosuppressive regimen should be discontinued early after HSCT. MDPI 2021-07-13 /pmc/articles/PMC8305558/ /pubmed/34300250 http://dx.doi.org/10.3390/jcm10143084 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Mayerhofer, Christina Niemeyer, Charlotte M. Flotho, Christian Current Treatment of Juvenile Myelomonocytic Leukemia |
title | Current Treatment of Juvenile Myelomonocytic Leukemia |
title_full | Current Treatment of Juvenile Myelomonocytic Leukemia |
title_fullStr | Current Treatment of Juvenile Myelomonocytic Leukemia |
title_full_unstemmed | Current Treatment of Juvenile Myelomonocytic Leukemia |
title_short | Current Treatment of Juvenile Myelomonocytic Leukemia |
title_sort | current treatment of juvenile myelomonocytic leukemia |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8305558/ https://www.ncbi.nlm.nih.gov/pubmed/34300250 http://dx.doi.org/10.3390/jcm10143084 |
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