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

被引：38

作者：

Giardino, Stefano ^{[1
]}

Latour, Regis P. de ^{[2
,3
]}

Aljurf, Mahmoud ^{[4
]}

Eikema, Dirk-Jan ^{[5
]}

Bosman, Paul ^{[6
]}

Bertrand, Yves ^{[7
]}

Tbakhi, Abdelghani ^{[8
]}

Holter, Wolfgang ^{[9
]}

Bornhaeuser, Martin ^{[10
]}

Roessig, Claudia ^{[11
]}

Burkhardt, Birgit ^{[11
]}

Zecca, Marco ^{[12
]}

Afanasyev, Boris ^{[13
]}

Michel, Gerard ^{[14
]}

Ganser, Arnold ^{[15
]}

Alseraihy, Amal ^{[4
]}

Ayas, Mouhab ^{[4
]}

Uckan-Cetinkaya, Duygu ^{[16
]}

Bruno, Benedicte ^{[17
]}

Patrick, Katharine ^{[18
]}

Bader, Peter ^{[19
]}

Itala-Remes, Maija ^{[20
]}

Rocha, Vanderson ^{[21
]}

Jubert, Charlotte ^{[22
]}

Diaz, Miguel A. ^{[23
]}

Shaw, Peter J. ^{[24
]}

Junior, Luiz G. D. ^{[25
]}

Locatelli, Franco ^{[26
]}

Kroeger, Nicolaus ^{[27
]}

Faraci, Maura ^{[1
]}

Pierri, Filomena ^{[1
]}

Lanino, Edoardo ^{[1
]}

Miano, Maurizio ^{[28
]}

Risitano, Antonio ^{[29
]}

Robin, Marie ^{[2
,3
]}

Dufour, Carlo ^{[28
]}

机构：

[1] Ist Giannina Gaslini, Hematopoiet Stem Cell Transplantat Unit, Lgo Gaslini 5, I-16147 Genoa, GE, Italy

[2] Univ Paris, French Reference Ctr Aplast Anemia, Paris, France

[3] Univ Paris, PNH, St Louis Hosp, Paris, France

[4] King Faisal Hosp & Res Ctr, Riyadh, Saudi Arabia

[5] EBMT Stat Unit, Leiden, Netherlands

[6] EBMT Data Off, Leiden, Netherlands

[7] IHOP, Lyon, France

[8] King Hussein Canc Ctr, Amman, Jordan

[9] St Anna Childrens Hosp, Vienna, Austria

[10] TU, Univ Klinikum Dresden, Dresden, Germany

[11] Univ Childrens Hosp Muenster, Pediat Hematol & Oncol, Munster, Germany

[12] Fdn IRCSS Policlin San Matteo, Pavia, Italy

[13] First State Med Univ, St Petersburg, Russia

[14] Hop Enfants La Timone, Marseille, France

[15] Hannover Med Sch, Hannover, Germany

[16] Hacettepe Univ, Childrens Hosp, Ankara, Turkey

[17] CHU Lille, Serv Hematol Pediat, Lille, France

[18] Sheffield Childrens NHS Fdn Trust, Sheffield, S Yorkshire, England

[19] Klinikum Johann Wolfgang Goethe Univ, Klin Kinder & Jugendmed, Schwerpunkt Stammzelltransplantat, Immunol & Intens Med, Frankfurt, Germany

[20] HUCH Comprehens Canc Ctr, Helsinki, Finland

[21] Hosp Sirio Libanes, Sao Paulo, Brazil

[22] Grp Hosp Pellegrin Enfants, Bordeaux, France

[23] Hosp Infantil Univ Nino Jesus, Madrid, Spain

[24] Childrens Hosp Westmead, Sydney, NSW, Australia

[25] Ribeirao Preto Med Sch, Sao Paulo, Brazil

[26] Univ Rome, IRCSS Osped Pediat Bambino Gesu, Rome, Italy

[27] Univ Hosp Eppendorf, Hamburg, Germany

[28] Ist Giannina Gaslini, UOC Ematol, Genoa, Italy

[29] Univ Federico II, Naples, Italy

来源：

AMERICAN JOURNAL OF HEMATOLOGY | 2020年 / 95卷 / 07期

关键词：

HEALTH-ORGANIZATION CLASSIFICATION; VERSUS-HOST-DISEASE; 2016; REVISION; MARROW; SUPPRESSES; DIAGNOSIS; MDS;

D O I：

10.1002/ajh.25810

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：809 / 816

页数：8

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