
From left: Tamara Lamprecht, Jason Schwartz, MD, Jing Ma, PhD, and Jeffery Klco, MD, PhD
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.
More Information
-
St. Jude Newsroom
Visit the St. Jude newsroom to read our latest news, find media relations contacts and explore resources for journalists and bloggers.
-
Research at St. Jude
At St. Jude, science matters. From molecular breakthroughs to innovative therapies, our research discovers the cures of tomorrow, and saves children's lives today.
-
Research News & Publications
Browse the latest peer-reviewed articles from St. Jude investigators and clinicians, as well as breaking news, in-depth features and our Scientific Report.
-
About St. Jude
St. Jude Children’s Research Hospital is leading the way the world understands, treats and defeats childhood cancer and other life-threatening diseases.
-
Clinical & Research Innovation
At St. Jude, we dream big, and build our research programs to match. Explore just a few of the pioneering initiatives that make St. Jude different.
-
Careers
St. Jude is a world-class research hospital seeking a diverse staff of faculty, researchers, clinicians, fundraisers and more. Find a job and help save lives.
-
Education and Training
St. Jude offers world-class scientific and clinical training experiences for fellows, students and other trainees. We also share knowledge through international outreach.