juvenile myelomonocytic leukaemia

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juvenile myelomonocytic leukaemia

A paediatric myelodysplastic syndrome (OMIM:607785) which comprises approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukaemia.

Molecular pathology
Germline mutations of NF1 account for the association of JMML with type-1 neurofibromatosis.
References in periodicals archive ?
Die facility's goal is to develop and maintain standardized iPSCs lines specific to a variety of rare inherited diseases--not only DBA and JMML, but also dyskeratosis congenita, congenital dyserythropoietic anemia, thrombocytopenia absent radii (TAR), Glanzmarm's thrombasthenia and Hermansky--Pudlak syndrome.
Although that pathway had not previously been directly implicated in JMML, Kotecha used an antibody that binds only to activated STAT5 to determine whether the cells of 12 patients with JMML displayed abnormally high levels of the protein in response to low doses of GM-CSF.
In contrast to the JMML samples, seven out of eight normal bone marrow samples, as well as eight out of eight samples from patients with similar, but not identical, disorders, maintained normal levels of activated protein after the low dose GM-CSF treatment--suggesting that the technique may be a sorely needed diagnostic aid for JMML.
We have personally treated patients with JMML at UCSF with identical driver mutations, some of whom survived, while others died, Stieglitz said.
In the new study, the researchers used comprehensive whole-exome gene sequencing, assisted by novel computational algorithms, to compare the genomes of healthy blood cells to those of cancer cells at diagnosis and relapse in 27 JMML patients ranging from one month to three years of age.
JMML patients do achieve complete remission and long-term cure after a second bone marrow transplant.
JMML accounts for 1% to 2% of childhood leukaemias each year.
Discussions with regulators and clinical experts on the appropriate clinical development program in JMML are ongoing.
More than half the children diagnosed as having JMML are under two years old.
The Juina area, which includes the JMML property, offers numerous indications of the existence of higher grade diamondiferous eluvial colluvial and alluvial gravels.
Generous Gazette readers have sent in donations ranging from pounds 10 to pounds 150 for the fund, raising money for research into JMML.
All funds raised will be channelled into JMML research and an annual donation will go to Crawford House in Newcastle, which provided her family with a home while she had treatment at the Royal Victoria Infirmary.