Matched sibling donor stem cell transplantation for Fanconi anemia patients with T‐cell somatic mosaicism

Yabe M, Shimizu T, Morimoto T, Koike T, Takakura H, Tsukamoto H, Muroi K, Oshima K, Asami K, Takata M, Yamashita T, Kato S, Yabe H. Matched sibling donor stem cell transplantation for Fanconi anemia patients with T-cell somatic mosaicism. Abstract:  SCT from HLA-identical sibling donors is generally associated with an excellent survival in FA patients if performed prior to the development of MDS or leukemia. However, the optimal conditioning regimen has not been defined. We report here our experience with 15 Japanese FA patients who underwent HLA-matched sibling donor SCT. The aim of this study is to compare radiation-based conditioning to Flu-based conditioning for FA patients in a Japanese population where the T-cell somatic mosaicism is higher than in the Caucasian population. Eight patients (a-group) received a radiation-based conditioning (500–600 cGy of thoracoabdominal/TBI) with CY dose modification (20–120 mg/kg), and ATG; two patients exhibited rejection. Seven patients (b-group) received CY (40 mg/kg), 150–180 mg/m2 of Flu, and ATG. Durable engraftment was demonstrated in all patients. In FA patients, Flu-based conditioning may allow stable engraftment in matched sibling donor transplantation without radiation, even in patients with T-cell somatic mosaicism.