by Robin Kalbfleisch
Picture a 50-year-old woman meeting with her doctor to discuss treatment options for breast cancer, while several floors below, at the same hospital, a 10-year-old boy and his parents learn more about his newly diagnosed Fanconi anemia. Apart from being face-to-face with serious illnesses, what could these two patients possibly have in common? One is battling the second leading cause of cancer mortality among Canadian women, while the other faces a rare genetic disorder that affects only few patients per million children and adults.
Remarkably, the two might be born with the same genetic mutation. Thanks to the explosion in knowledge regarding blood disorders and the human genome, it is now known that a significant number of patients with breast cancer have mutations in one copy of a gene that is completely mutated in a portion of the patients with Fanconi anemia. This means that it’s possible to share research, care and education between these two seemingly disparate conditions. And it’s precisely this type of collaboration that Dr. Yigal Dror and his colleagues at The Hospital for Sick Children (SickKids) in Toronto aim to leverage.
Dr. Dror is a Haematologist/Oncologist at SickKids and Director of the hospital’s Marrow Failure and Myelodysplasia Program. Bone marrow failure occurs when the body cannot produce enough of certain types of blood cells. Myelodysplastic syndromes (MDS, also called pre-leukemia) result from ineffective production of blood cells, and if not treated progresses into leukemia. Bone marrow failure and MDS comprise a number of acquired or genetic disorders, including aplastic anemia, Fanconi anemia, Diamond-Blackfan anemia and severe congenital neutropenia.
In many of these disorders, there is a high risk they will develop into cancer. So, understanding marrow failure and myelodysplastic syndromes (MFMSs) not only benefits patients with these rare diseases, but it also provides a unique insight into other disease states that are common among the general population. "A lot of progress has been made in treating patients with these disorders in recent years,” says Dr. Dror. "However, major advances are necessary to cure the diseases and improve the outcome for patients.”
Many patients require life-long transfusions or daily injections of drugs to stimulate the bone marrow. These therapies provide only a temporary solution and may result in substantial long-term toxicity, as well as complications such as heart and kidney disease, learning difficulties and hormonal imbalances. Currently, the only curative treatment of the disorders is bone marrow transplantation. However, for yet unknown reasons, the procedure in these patient population results in a high risk of death and substantial short and long-term toxicity.
While there are 16 hospitals with pediatric oncology centres across Canada, SickKids is the only children’s hospital with a program specifically aimed at MFMSs. Created in 2002, the centre offers an unrivalled infrastructure for research, education and clinical care. And Dr. Dror has set his sights on taking it one step further: growing the program so it can take a national and global leadership role in the field of pediatric MFMSs. "We want to have a critical impact on the field beyond the Greater Toronto Area,” he says.
Over the next three years, Dr. Dror and his colleagues are looking to establish what will be known as the Comprehensive Childhood Marrow Failure and Myelodysplasia Program (CCMFMP) at SickKids. Building on the existing infrastructure, CCMFMP will:
- Promote collaboration outside SickKids with health care professionals and researchers working in the field;
- Promote care for patients and families with MFMSs; and
- Increase the local, provincial, national and international awareness of the major medical challenges facing patients and families.
"We predict that the CCMFMP will lead the way in the generation, dissemination and application of new knowledge,” says Dr. Dror. "The end result will be better outcomes for children with these blood diseases, as well as valuable insights into related cancers that affect the wider population. The possibilities are endless.”