Researchers Discover Solution to Medical Mystery That May Help Some Children Avoid Bone Marrow Transplantation

Sunday, August 26, 2018 - 09:38

Researchers from St. Jude Children’s Research Hospital and the University of California, San Francisco, have identified mutations that cause a rare bone marrow disorder and discovered the condition sometimes resolves without treatment.

According to St. Jude Children’s Research Hospital report, researchers have helped solve a decades-old mystery about which mutations are responsible for an inherited bone marrow disorder.

The answer may allow some children to avoid the risk and expense of bone marrow transplantation, a common treatment for leukemia and bone marrow disorders. Investigators at St. Jude Children’s Research Hospital and UCSF, led the study, which appears today in the scientific journal JCI Insight.

Researchers analyzed blood samples from 16 siblings in five families affected by a rare bone marrow disorder and found they all carried germline mutations in the genes SAMD9 or SAMD9L.

The disorder is myelodysplasia and leukemia syndrome with monosomy 7, which is also called familial monosomy 7 syndrome. In three of the five families, an apparently healthy parent also carried the mutation. Germline mutations are found in the DNA of every cell and are usually inherited.

“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,” said Jeffery Klco, M.D., Ph.D., assistant member of the St. Jude Department of Pathology. Klco and Kevin Shannon, M.D., of UCSF, are co-corresponding authors of the study.

The findings also identified SAMD9 and SAMD9L as cancer predisposition genes that should be included in genetic counseling and screening offered to at-risk patients and families. These families include those affected by myelodysplasia and related blood abnormalities like AML. St. Jude is establishing a clinic to develop clinical trials and new treatments for children with bone marrow failure disorders, including MDS. The clinic will be led by Marcin Wlodarski, M.D., Ph.D., an assistant member of the St. Jude Department of Hematology.

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