What is MFM

Marrow Failure and Myelodysplasia

MFM, or short for Marrow Failure and Myelodysplasia includes a large group of disorders than can be either inherited or acquired. These diseases are disorders of the hematopoietic stem cell that can involve either one cell line or all of the cell lines. Bone marrow failure and Myelodysplasia disorders include:
  • Aplastic anemia
  • Fanconi anemia
  • Shwachman-Diamond syndrome
  • Congenital amegakaryocytic thrombocytopenia
  • Dyskeratosis congenital
  • Congenital hair hypoplasia
  • Pearson disease
  • Diamond Blackfan anemia
  • Sideroblastic anemia
  • Kostmann neutropenia
  • Cyclic neutropenia
  • Barth’s syndrome
  • Benign familial neutropenia
  • Glycogen storage disease type Ib
  • Myelokathexis
  • Thrombocytopenia with absent radii
  • Familial non-syndromic thrombocytopenia
  • Dyserythropoietic anemia with thrombocytopenia
  • Familial thrombocytopenia with propensity for leukemia
  • Myelodysplastic syndromes
MFM disorders comprise a large number of genetic and acquired conditions with life threatening cytopenias and a risk for cancer. In many of the disorders the estimated actuarial risk of cancer at the age of 50 years is more than 50%, which is ten to hundred times higher than in the general population. Understanding MFM not only benefits patients with these rare diseases, but also provides a unique insight into global pathologic mechanisms of other disease states applicable to the general population. Progress has been made in understanding the MFMSs and in treating patients with the disorders in recent years. However, major advances are necessary to cure the diseases and improve the outcome of the patients. Currently most therapies provide either a temporary solution and may result in substantial long-term toxicity. At present, hematopoietic stem cell transplantation (HSCT) is the main curative option for the hematological complications in MFM. However, transplant-related complications in the inherited marrow failure syndromes (IMFSs) are very common due to inherent hypersensitivity to the chemotherapy and irradiation given during preparation for transplant. The explosion in scientific knowledge regarding blood disorders over the past decade has been breathtaking and is likely to continue at an accelerated pace. Much of the human genome has been characterized, and advances in biotechnology have brought many novel and effective treatments, some of which, like recombinant growth factors (e.g. G-CSF), have come at a high financial cost to the Canadian health care system. Increasingly, advances in science and clinical care will reflect team-based approaches and collaboration between groups of health care professionals and researchers. It is essential therefore that, as health care professionals in a leading academic paediatric centre, we take advantage of these scientific opportunities while ensuring that our patients with blood disorders have access to the best evidence-based medical care delivered in a safe and cost-effective manner. 

Dr. Yigal Dror, Haematologist/Oncologist and Director of the Marrow Failure and Myelodysplasia Program, The Hospital for Sick Children (SickKids), Toronto, Canada.