Professor of Medicine, Section of Hematology/Oncology, University of Chicago

Dr. Janet D. Rowley died at her home in the Hyde Park neighborhood of Chicago on December 17, 2013, from recurrent ovarian cancer. She was 88 years old. Dr. Rowley, the Blum-Riese Distinguished Service Professor at the University of Chicago, was one of the most renowned scientists of the 20th century for her transformative contributions to the understanding of cancer biology and the development of novel approaches to cancer treatment. She was internationally recognized for her studies of chromosome abnormalities in human leukemia and lymphoma, leading directly to more precise diagnoses, to better risk stratification, and to specific therapies for these malignancies. Her work set in motion the current era of cancer genetics, revolutionized thinking about the pathogenesis of cancer, and led to novel therapies such as imatinib for chronic myeloid leukemia (CML).

As a trainee in hematology in 1980, my first recollection of Janet is a memory of her wearing hiking boots and a heavily laden backpack, climbing up and down the back staircase in the Franklin McLean Institute at the University of Chicago. She was training to hike the Inca Trail from Cuzco to Machu Picchu with her husband Donald. She approached her science with equal vigor, determination, and persistence. In addition to her independent scientific contributions, Dr. Rowley was an exceptional role model and mentor. She was known for her kind and energetic guidance of her colleagues, and she was an inspiration to dozens of young physician-scientists, especially women.

Janet was born in New York City in 1925 and moved to Chicago when she was two. At the age of 15, she was granted a scholarship to an advanced placement program at the University of Chicago Laboratory Schools, which combined the last two years of high school with the first two years of college. She received her Bachelor of Philosophy degree in 1944 and was accepted into the University’s medical school, although her enrollment was delayed a year because the quota of women – three in each class of 65 – had already been filled.

She received her MD in 1948 at the age of 23 and married Donald Rowley, also a physician, the very next day. She spent most of the next two decades raising their four children while working part time as a physician at a clinic for children with developmental disabilities, including Down syndrome. The 1959 report by J.J. Lejeune describing trisomy 21 in Down syndrome sparked her interest in cytogenetics.

In 1962, after spending a year at Oxford learning cytogenetics, while Donald, a pathologist, was on a sabbatical, Janet returned to the University of Chicago as a hematology research associate. Dr. Leon Jacobson, a colleague and mentor, suggested she apply her knowledge to the study of chromosomes from patients with leukemia. He offered some laboratory space, a microscope, and a salary of $5,000 a year. For the next decade, she labored over the microscope, searching amid the seeming genetic chaos for consistent chromosome abnormalities.

In 1972, Dr. Rowley discovered the first consistent chromosome translocation in any human cancer, namely the t(8;21) translocation in acute myeloid leukemia (AML). In a landmark paper published in Nature in 1973 (Nature. 1973;243:290-293), Janet described the t(9;22) translocation in CML. At that time, the distinctive Philadelphia chromosome was thought to result from the loss of DNA from either chromosome 21 or 22, but Janet showed that it was due to a balanced translocation. Subsequently, she identified more than a dozen different recurring translocations in children and adults with leukemia and lymphoma, including t(14;18) seen in follicular lymphoma, t(15;17), the pathognomonic signature of acute promyelocytic leukemia, and chromosome 11 translocations affecting the MLL gene that contribute frequently to the pathobiology of lymphocytic and myeloid leukemias. Working closely with hematopathologists James W. Vardiman and Daina Variakojis and with Harvey M. Golomb, her clinical collaborator, she was able to link these recurring chromosomal abnormalities with distinctive phenotypes, clinical characteristics, and treatment outcomes. Janet was a pioneer in what is now called “translational research,” applying laboratory studies to the understanding and treatment of human disease. Her discoveries changed the prevailing view of cancer researchers who had considered chromosomal abnormalities in cancer to be an epiphenomenon with little biologic or clinical significance.

“Janet has been a mentor for her colleagues as well as her trainees and an ongoing example of scientific wisdom and imagination combined with impeccable professional and personal style,” colleague Michelle Le Beau, PhD, director of the University of Chicago Medicine Comprehensive Cancer Center, said. “She received just about every imaginable honor. Yet she remained breathtakingly humble, giving most of the credit to her colleagues, her students, and luck.”

Janet’s contributions to hematology were recognized by ASH with the William Dameshek Prize in 1983 and the Henry M. Stratton Medal in 2003. In 2011, she shared the Ernest Beutler Lecture and Prize with Dr. Brian J. Druker. She was elected to membership of numerous scientific and honorary societies including the National Academy of Sciences, the Institute of Medicine, the American Philosophical Society, and the American Academy of Arts and Sciences. President Jimmy Carter appointed her to the National Cancer Advisory Board (1979-1984). President Bill Clinton awarded her the National Medal of Science (1998). From 2002 to 2009, she served on President George W. Bush’s Council on Bioethics, and, in 2009, she stood next to President Barack Obama when he lifted the federal moratorium on funding for stem cell research. She was also the recipient of many prestigious awards for her work – among them, the 1998 Albert Lasker Clinical Medicine Research Prize for her work on chromosomal translocation, the Presidential Medal of Freedom in 2009, and the Gruber Prize in Genetics.

Outside of the lab, she was an avid biker. She was also well known for her gardening skills. Her husband, Donald, an emeritus professor of pathology at the University of Chicago, died in early 2013. Her legacy is the impact she has had on the thousands of patients who benefited from her discoveries, the worldwide community of cancer cytogeneticists and leukemia investigators, and the students and trainees she mentored.