Researchers have solved a decades-old mystery about which mutations cause a rare, inherited bone marrow disorder. The answer may allow some children to avoid bone marrow transplantation.
Scientists studied blood samples from 16 siblings in five families affected by myelodysplasia and leukemia syndrome with monosomy 7, which is also called familial monosomy 7 syndrome. All 16 siblings were found to have germline mutations in the genes SAMD9 or SAMD9L.
Surprisingly, 11 of the children regained normal bone marrow function.
“Now that we know this disease can resolve without treatment in some patients, we need to focus on developing screening and treatment guidelines,” said Jeffery Klco, MD, PhD, of St. Jude Pathology. “We want to reserve bone marrow transplantation for those who truly need the procedure. These findings will help to point the way.”
The study identified SAMD9 and SAMD9L as cancer predisposition genes that should be included in genetic counseling and screening for at-risk patients and families.
A report on this study appeared in the journal JCI Insight.