Janet Davison Rowley

Janet Davison Rowley, MD, a founder in the field of cancer cytogenetics and a leader in molecular oncology, was born in New York City in 1925 and her family moved to Chicago when she was two years old. She is a product of the University of Chicago; earning her B.S. in Anatomy (1946) and her M.D. (1948) from the University. She returned to the University of Chicago in 1962 as a Research Associate (Assistant Professor) and rose through several academic positions to her current appointment as the Blum-Riese Distinguished Service Professor of Medicine, Molecular Genetics and Cell Biology, and Human Genetics at the University.

Her scientific career got rolling in 1962. On sabbatical with her husband in Oxford the previous year, she learned newly developed techniques of chromosome analysis. Back in Chicago, she accepted a position at the University of Chicago. Early 1970s cytogeneticists perfected the art of chromosome "banding," a way of visualizing segments of chromosomes with more precision. Rowley learned these techniques during a sabbatical in Oxford in 1970-71. They enabled her to discover that chromosomes from leukemic cells not only lost genetic material, they sometimes exchanged it. Early in 1972, Rowley discovered the first such "translocation," an exchange of small pieces of DNA between chromosomes 8 and 21 in patients with acute myeloblastic leukemia. Later that same year, she found that the "Philadelphia" chromosome was also the result of a translocation. In patients with CML, a crucial segment of chromosome 22 broke off and moved to chromosome 9, where it did not belong. At the same time, a tiny piece of chromosome 9, which included an important cancer-causing gene, the Abelson gene, had moved to the breakpoint on chromosome 22. Because of this transfer from one chromosome to another, important genes that regulated cell growth and division were no longer located intact in their normal position on the chromosome. This provided critical evidence that cancer was a genetic disorder. Rowley and her colleagues subsequently identified several other chromosome translocations that were characteristic of specific malignancies, such as the 14;18 translocation seen in follicular lymphoma, and the 15;17 translocation that causes acute promyelocytic leukemia (APL). Identifying these changes has led to the development of important therapeutic agents such as Gleevec® or Imantinib® for CML.

She has contributed directly to our increasing knowledge of cancer-related genes by cloning a number of genes at translocation breakpoints in her laboratory. She was the first to map the location of the Myeloid-Lymphoid gene, MLL, which as become the focus of intense research in her laboratory and around the world.

Dr. Rowley’s work has also had a major impact on oncology through her observations that the type of therapy used to treat a primary cancer is closely correlated with the karyotype of leukemic cells in those few patients who develop therapy-related (secondary) leukemia. She first showed in 1977, that there were recurring abnormalities in therapy-related leukemia, notably an unusually high frequency of loss of chromosomes 5 and/or 7 in patients treated with alkylating agents with or without radiation. She and her colleagues also were the first to implicate etoposide (a topoisomerase II inhibitor) in the unusual cytogenetics pattern (namely 11q23 translocations) seen in leukemic cells of patients who had previously received very high doses of topoisomerase II inhibitors. She also reported that the occurrence of secondary leukemias harboring balancing translocations could be related to drugs acting on topoisomerase II.

Dr. Rowley continues to direct an active laboratory exploring new areas of research, including the pattern of gene and microRNA expression in normal hematopoietic cells as well as in acute myelogenous leukemia cells with recurring translocations.

In recognition of her accomplishments Dr. Rowley has been the recipient of numerous awards throughout her career including the Albert Lasker Clinical Research Award (1998), the National Medal of Science (1998), Gruber Prize in Genetics (2009), Presidential Medal of Freedom (2009), the Jesse Stevenson Kovalenko Award from the National Academy of Sciences (2010), and the Lifetime Achievement Award from the American Association for Cancer Research (2010).