A rare form of childhood myelodysplasia has been linked to genes responsible for a range of developmental disorders.
The discovery may help improve screening and treatment decisions about familial monosomy 7 syndrome, also known as myelodysplasia and leukaemia syndrome with monosomy 7.
US researchers have linked germline mutations in the SAMD9 and SAMD9L genes to the disease. These were found in samples from 16 individuals in five affected families.
Among the 16, three died from acute myeloid leukaemia while 11 seemed healthy despite having been previously treated for anaemia and other conditions associated with low blood counts.
The researchers, reporting in JCI Insight, say that some of the patients had a history of developing bone marrow monosomy 7 - and that it spontaneously corrected over time without therapy.
This suggests that genetic screening and further research might help identify patients who will experience spontaneous remission.
The research was undertaken at St Jude Children’s Research Hospital, Memphis, Tennessee, and the University of California, San Francisco.
Researcher Dr Jeffery Klco, from St Jude, said: "Surprisingly, the health consequences of these mutations varied tremendously for reasons that must still be determined, but the findings are already affecting how we may choose to manage these patients.
"The spontaneous recovery experienced by some children with the germline mutations suggests some patients with SAMD9 and SAMD9L mutations who were previously considered candidates for bone marrow transplantation may recover haematologic function on their own."
He added: "Now that we know this disease can resolve without treatment in some patients, we need to focus on developing screening and treatment guidelines.
"We want to reserve haematopoietic bone marrow transplantation for those who truly need the procedure. These findings will help to point the way.
"So little is known about SAMD9 and SAMD9L that we need to continue working in the lab to better understand how these mutations impact blood cell development and how they are activated in response to infections and other types of stress."
Source: Wong J,.C. , Bryant V., Lamprecht T. et al, 2018. Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes. JCI Insight. 2018;3(14):e121086. https://doi.org/10.1172/jci.insight.121086.
Link: https://insight.jci.org/articles/view/121086
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