Juvenile Myelomonocytic Leukemia (JMML)

Common Name(s)

Juvenile Myelomonocytic Leukemia (JMML), Juvenile myelomonocytic leukemia

Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny ({9:Loh et al., 2009}). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia ({5:Hasle et al., 1999}). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT ({13:Niemeyer et al., 1997}). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 ({601511}) hyperphosphorylation ({9:Loh et al., 2009}). Genetic Heterogeneity of Juvenile Myelomonocytic Leukemia In up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11, KRAS, and NRAS genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall ({9:Loh et al., 2009}). Somatic disruptions of the GRAF gene (ARHGAP26; {605370}) have also been found in patients with JMML. About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1; {162200}) due to germline mutations in the NF1 gene ({613113}). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL; {613563}) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic Leukemia Somatic mutations in the CBL, ASXL1 ({612990}), TET2 ({612839}), and SF3B1 ({605590}) genes have been found in patients with CMML.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile Myelomonocytic Leukemia (JMML)" for support, advocacy or research.

Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

Last Updated: 2 Aug 2013

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JMML Foundation, The

The Mission of the JMML Foundation is to cure Juvenile Myelomonocytic Leukemia (JMML) and to improve the quality of life of JMML patients and families through research, education, advocacy, and charity.

Last Updated: 28 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Juvenile Myelomonocytic Leukemia (JMML)" for support, advocacy or research.

Isabella's Aviary Alliance, LLC

Isabella’s Aviary Alliance, LLC actively demonstrates, through Isabella’s passionate and loving care in breeding and raising baby parrots for other special needs children, the possibility for two hearts—bird and child—coming together and connecting in a way which infinitely brightens the lives of both.

http://www.isabellasaviary.com

Last Updated: 2 Aug 2013

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JMML Foundation, The

The Mission of the JMML Foundation is to cure Juvenile Myelomonocytic Leukemia (JMML) and to improve the quality of life of JMML patients and families through research, education, advocacy, and charity.

https://thejmmlfoundation.wildapricot.org/

Last Updated: 28 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Juvenile Myelomonocytic Leukemia (JMML)" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Juvenile Myelomonocytic Leukemia (JMML)" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study for Epidemiology and Characterization of Myelodysplastic Syndromes (MDS) and Juvenile Myelomonocytic Leucemia (JMML) in Childhood
 

Status: Recruiting

Condition Summary: Myelodysplastic Syndromes; Juvenile Myelomonocytic Leukemia

 

Last Updated: 3 Feb 2010

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Stem Cell Transplant for Juvenile Myelomonocytic Leukemia (JMML)
 

Status: Recruiting

Condition Summary: Juvenile Myelomonocytic Leukemia

 

Last Updated: 4 Mar 2014

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