Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation (HCT) for Inherited Bone Marrow Failure Syndromes (IBMFS): Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium I

Publication Type:

Journal Article


Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation (2017)


Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are three of the most common inherited bone marrow failure syndromes (IBMFS), in which the hematologic manifestations can be cured with hematopoietic cell transplantation (HCT). Later in life these patients face a variety of medical conditions which may be a manifestation of underlying disease, may be due to their pre-HCT therapy, may be due to their HCT, or may be a combination of all these elements. Very limited long-term follow-up data exist in these populations, with FA the only IBMFS that has specific published data. During the international consensus conference sponsored by the Pediatric Blood and Marrow Transplant Consortium entitled "Late Effects Screening and Recommendations Following Allogeneic Hematopoietic Cell Transplant (HCT) for Immune Deficiency and Nonmalignant Hematologic Disease" held in Minneapolis, Minnesota in May of 2016, a half-day session was focused specifically on the unmet needs for these patients with IBMFS. A multidisciplinary group of experts discussed what is currently known, outlined an agenda for future research, and laid out long-term follow-up guidelines based on a combination of evidence in the literature as well as expert opinion. This article addresses the state of science in that area as well as consensus regarding the agenda for future research, with specific screening guidelines to follow in the next article from this group.