Pediatricians face a difficult task determining when to refer a child for a suspected bone marrow failure syndrome. These syndromes are a group of disorders that typically share a few common features: low blood counts due to poor blood cell production, congenital anomalies and cancer predisposition. However, only a subset of children with bone marrow failure syndromes will present with the findings described in textbooks. These children often appear well and lack classical physical findings. The blood counts may even sometimes be normal or only drop intermittently, but remain at risk for malignancy. By the time a child looks sick, their marrow’s ability to produce blood cells can be so weakened that it could be too late – or at least much more difficult – to treat them successfully. …Read More
Akiko Shimamura, MD, PhD, first became fascinated with hematology as a pediatric resident at Johns Hopkins Hospital, an interest that blossomed into a career dedicated to the study and treatment of bone marrow failure (BMF) syndromes, first at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and then at Seattle Children’s Hospital/Fred Hutchinson Cancer Research Center. Last fall, she moved back to Boston to take the helm of the Bone Marrow Failure (BMF) Program at Dana-Farber/Boston Children’s, bringing with her a perspective on pediatric BMF/myelodysplastic syndrome (MDS) that centers on collaboration as a path to deeper understanding of BMF/MDS biology and an approach to patient care.
Notes invited Shimamura to talk about her thoughts on the current and future state of BMF/MDS research and management. Below is a summary transcript of what she had to say. …Read More