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Transplantation is usually considered when other treatments failed and the patient becomes transfusion dependent. Only 20% of patients go into remission. Retrospective studies suggest that allogeneic HCT is effective in the treatment of DBA unresponsive to glucocorticoid therapy. Long-term survival is achieved in 65 to 75 percent of patients.

The International Bone Marrow Transplant Registry (IBMTR) is a working group of more than 400 transplant centers that cooperate in collecting data on HCT. This group has published the largest series of patients with DBA who underwent HCT [2]. This review included 61 patients with a median age at transplant of seven years (range 1 to 32 years). Forty-one of the patients received transplants from an HLA-identical sibling donor, eight from a nonsibling family donor, and 12 from an unrelated donor. The median time for transplantation after diagnosis of DBA was 62 months (range 5 to 286 months). Results included the following:

●Of the 59 evaluable patients, 54 achieved neutrophil recovery with a white blood cell count of >500 per mm3, (median time: 17 days, range: 10 to 119 days) and 51 achieved platelet recovery, defined as a platelet count >20,000 per mm3 (median time: 23 days, range: 9 to 119 days). The donor source did not alter the probability of neutrophil recovery. The speed of recovery was greatest in those patients who received the lowest number of transfusions prior to transplantation.
The Diamond Blackfan Anemia Registry of North America is a voluntary database of patients with DBA from the United States and Canada. In a report from 2006, HCT had been performed in 36 patients (median age: 7 years 19 months) primarily because of transfusion dependence [4]. Five years after HCT, the survival rate for patients receiving HCT from an HLA-matched sibling donor was 73 percent, as compared with 19 percent in patients receiving HCT from an alternative donor (umbilical cord blood, bone marrow, or peripheral blood stem cells from a matched unrelated donor, or mismatched bone marrow from a relative). Among the 16 patients who died, causes of death included infection, GVHD, and/or veno-occlusive disease of the liver. Graft failure was the cause of death in only one patient, who underwent HCT from an unrelated donor.

The Italian Association of Pediatric Hematology and Oncology Registry reported the following outcomes of 30 patients with DBA who underwent allogeneic HCT, with the majority performed after the year 2000
●A matched sibling donor was employed in 16 patients, with the remaining 14 being transplanted using a matched unrelated donor. Engraftment was achieved in 28 of the 30 patients, with overall survival and transplant-related mortality at five years of 74 and 26 percent, respectively.
●Patients younger than 10 years as well as those transplanted after the year 2000 showed a significantly higher overall survival and a significantly lower risk of transplant-related mortality.

The rarity of DBA precludes large-scale randomized trials

Velu NairEmail et al, Successful bone marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report. Journal of Medical Case Reports 2011 5:216

Ohga S, Mugishima H, Ohara A, Kojima S, Fujisawa K, Yagi K, Higashigawa M, Tsukimoto I., Aplastic Anemia Committee Japanese Society of Pediatric Hematology. Diamond-Blackfan anemia in Japan: clinical outcomes of prednisolone therapy and hematopoietic stem cell transplantation. Int J Hematol. 2004;79:22–30.

5.Fagioli F, Quarello P, Zecca M, et al. Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry. Br J Haematol 2014; 165:673.

Vlachos A, Muir E. How I treat Diamond-Blackfan anemia. Blood 2010; 116:3715.

Narla A, Vlachos A, Nathan DG. Diamond Blackfan anemia treatment: past, present, and future. Semin Hematol 2011; 48:117.

Aghalar J, Atsidaftos E, Lipton JM, Vlachos A. Improved outcomes in Diamond Blackfan anemia treated via stem cell transplantation since the year 2000 (abstract). Blood 2009; 114:3202.