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Serious blood diseases linked to abnormal stem cells

"Researchers have suspected that MDS is a stem cell disease and now we finally have proof," said co-senior author Amit Verma, M.B.B.S. Dr. Verman is associate professor of medicine and developmental and molecular biology at Einstein and a physician at Montefiore Einstein Center for Cancer Care. "Equally important, we found that even after MDS standard treatment, abnormal stem cells persist in the bone marrow. So although the patient may be in remission, those stem cells don't die and the disease will inevitably return.

'Based on our findings, it's clear that we need to wipe out the abnormal stem cells in order to improve cure rates"

Each year, about 10,000 to 15,000 people in the U.S., most over the age of 60, are diagnosed with MDS, according to the National Marrow Donor Program. MDS is a diverse group of incurable diseases affect the bone marrow and lead to low numbers of blood cells. While some forms are mild and easily managed, 25 to 30 percent of MDS cases develop into acute myeloid leukemia. Treatment usually involves chemotherapy plus supportive care such as blood transfusions.

Britta Will, Ph.D., research associate in the department of cell biology, is lead author in the study. She and her colleagues analyzed bone marrow stem cells and progenitor cells from 16 patients with various types of MDS and 17 healthy controls. The stem and progenitor cells were isolated from bone marrow using cell-sorting methods developed in the laboratory of co-senior author Ulrich Steidl, M.D., Ph.D., the Diane and Arthur B. Belfer Faculty Scholar in Cancer Research at Einstein.

Genome-wide analysis revealed widespread genetic and epigenetic alterations in stem and progenitor cells taken from MDS patients, in comparison to cells taken from healthy controls. The abnormalities were more pronounced in patients with types of MDS likely to prove fatal than in patients with lower-risk types.

"Our study offers new hope that MDS can be more effectively treated, with therapies that specifically target genes that are deregulated in early stem and progenitor cells," Dr. Steidl said. "In addition, our findings could help to detect minimal residual disease in patients in remission, allowing for more individualized treatment strategies that permanently eradicate the disease."

The study, "Stem and Progenitor Cells in Myelodysplastic Syndromes Show Aberrant Stage Specific Expansion and Harbor Genetic and Epigenetic Alterations," appears ahead of print in the July 2 online edition of Blood.

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Albert Einstein College of Medicine