TY - JOUR
T1 - Outcome of patients with Fanconi anemia developing myelodysplasia and acute leukemia who received allogeneic hematopoietic stem cell transplantation: A retrospective analysis on behalf of EBMT group
AU - Giardino, Stefano
AU - De Latour, Regis P.
AU - Aljurf, Mahmoud
AU - Eikema, Dirk-Jan
AU - Bosman, Paul
AU - Bertrand, Yves
AU - Tbakhi, Abdelghani
AU - Holter, Wolfgang
AU - Bornhäuser, Martin
AU - Rössig, Claudia
AU - Burkhardt, Birgit
AU - Zecca, Marco
AU - Afanasyev, Boris
AU - Michel, Gerard
AU - Ganser, Arnold
AU - Alseraihy, Amal
AU - Ayas, Mouhab
AU - Uckan-Cetinkaya, Duygu
AU - Bruno, Benedicte
AU - Patrick, Katharine
AU - Bader, Peter
AU - Itälä-Remes, Maija
AU - Rocha, Vanderson
AU - Jubert, Charlotte
AU - Diaz, Miguel A.
AU - Shaw, Peter J.
AU - Junior, Luiz G. D.
AU - Locatelli, Franco
AU - Kröger, Nicolaus
AU - Faraci, Maura
AU - Pierri, Filomena
AU - Lanino, Edoardo
AU - Miano, Maurizio
AU - Risitano, Antonio
AU - Robin, Marie
AU - Dufour, Carlo
PY - 2020
Y1 - 2020
N2 - Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is curative for bone marrow failure in patients with Fanconi anemia (FA), but the presence of a malignant transformation is associated with a poor prognosis and the management of these patients is still challenging. We analyzed outcome of 74 FA patients with a diagnosis of myelodysplastic syndrome (n = 35), acute leukemia (n = 35) or with cytogenetic abnormalities (n = 4), who underwent allo-HSCT from 1999 to 2016 in EBMT network. Type of diagnosis, pre-HSCT cytoreductive therapies and related toxicities, disease status pre-HSCT, donor type, and conditioning regimen were considered as main variables potentially influencing outcome. The 5-year OS and EFS were 42% (30-53%) and 39% (27-51%), respectively. Patients transplanted in CR showed better OS compared with those transplanted in presence of an active malignant disease (OS:71%[48-95] vs 37% [24-50],P =.04), while none of the other variables considered had an impact. Twenty-two patients received pre-HSCT cytoreduction and 9/22 showed a grade 3-4 toxicity, without any lethal event or negative influence on survival after HSCT(OS:toxicity pre-HSCT 48% [20-75%] vs no-toxicity 51% [25-78%],P =.98). The cumulative incidence of day-100 grade II-IV a-GvHD and of 5-year c-GvHD were 38% (26-50%) and 40% (28-52%). Non-relapse-related mortality and incidence of relapse at 5-years were 40% (29-52%) and 21% (11-30%) respectively, without any significant impact of the tested variables. Causes of death were transplant-related events in most patients (34 out of the 42 deaths, 81%). This analysis confirms the poor outcome of transformed FA patients and identifies the importance of achieving CR pre-HSCT, suggesting that, in a newly diagnosed transformed FA patient, a cytoreductive approach pre-HSCT should be considered if a donor have been secured.
AB - Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is curative for bone marrow failure in patients with Fanconi anemia (FA), but the presence of a malignant transformation is associated with a poor prognosis and the management of these patients is still challenging. We analyzed outcome of 74 FA patients with a diagnosis of myelodysplastic syndrome (n = 35), acute leukemia (n = 35) or with cytogenetic abnormalities (n = 4), who underwent allo-HSCT from 1999 to 2016 in EBMT network. Type of diagnosis, pre-HSCT cytoreductive therapies and related toxicities, disease status pre-HSCT, donor type, and conditioning regimen were considered as main variables potentially influencing outcome. The 5-year OS and EFS were 42% (30-53%) and 39% (27-51%), respectively. Patients transplanted in CR showed better OS compared with those transplanted in presence of an active malignant disease (OS:71%[48-95] vs 37% [24-50],P =.04), while none of the other variables considered had an impact. Twenty-two patients received pre-HSCT cytoreduction and 9/22 showed a grade 3-4 toxicity, without any lethal event or negative influence on survival after HSCT(OS:toxicity pre-HSCT 48% [20-75%] vs no-toxicity 51% [25-78%],P =.98). The cumulative incidence of day-100 grade II-IV a-GvHD and of 5-year c-GvHD were 38% (26-50%) and 40% (28-52%). Non-relapse-related mortality and incidence of relapse at 5-years were 40% (29-52%) and 21% (11-30%) respectively, without any significant impact of the tested variables. Causes of death were transplant-related events in most patients (34 out of the 42 deaths, 81%). This analysis confirms the poor outcome of transformed FA patients and identifies the importance of achieving CR pre-HSCT, suggesting that, in a newly diagnosed transformed FA patient, a cytoreductive approach pre-HSCT should be considered if a donor have been secured.
KW - FANCONI ANEMIA
KW - FANCONI ANEMIA
UR - http://hdl.handle.net/10807/229773
U2 - 10.1002/ajh.25810
DO - 10.1002/ajh.25810
M3 - Article
SN - 0361-8609
VL - 95
SP - 809
EP - 816
JO - American Journal of Hematology
JF - American Journal of Hematology
ER -