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Review
. 2017 May;23(5):726-735.
doi: 10.1016/j.bbmt.2017.01.075. Epub 2017 Jan 20.

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation

Andrew C Dietz  1 , Parinda A Mehta  2 , Adrianna Vlachos  3 , Sharon A Savage  4 , Dorine Bresters  5 , Jakub Tolar  6 , Farid Boulad  7 , Jean Hugues Dalle  8 , Carmem Bonfim  9 , Josu de la Fuente  10 , Christine N Duncan  11 , K Scott Baker  12 , Michael A Pulsipher  13 , Jeffrey M Lipton  3 , John E Wagner  6 , Blanche P Alter  4
Affiliations
Review

Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation

Andrew C Dietz et al. Biol Blood Marrow Transplant. 2017 May.

Abstract

Fanconi anemia (FA), dyskeratosis congenita (DC), and Diamond Blackfan anemia (DBA) are 3 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 or due to pre-HCT therapy, the HCT, or 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.

Keywords: Diamond Blackfan anemia; Dyskeratosis congenita; Fanconi anemia; Inherited bone marrow failure syndromes; Late effects; Pediatric allogeneic hematopoietic cell transplantation.

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Conflict of interest statement

Conflict of interest statement: The authors have no relevant conflicts of interest to disclose.

Figures

Figure 1
Figure 1
FA/BRCA DNA damage response pathway. This figure is updated from [30].
Figure 2
Figure 2
Schematic of telomere biology. The relevant genes are listed in the text, and the figure includes proteins that have not yet been reported to be associated with disease. [Wegman-Ostrosky T, Savage, SA. The genomics of inherited bone marrow failure: from mechanism to the clinic. Br J Haematol. In press.]
Figure 3
Figure 3
Genes involved in ribosomal biogenesis in Diamond Blackfan anemia.
See this image and copyright information in PMC

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