Modern management of Fanconi anemia

In this review, we present a clin i cal case report and dis cus sion to out line the impor tance of long -term spe cifi c Fanconi ane mia (FA) mon i tor ing, and we dis cuss the main aspects of the gen eral man age ment of patients with FA and clin i cal complications. While several nontransplant treatments are currently under evaluation, hematopoietic stem cell transplan-ta tion (HSCT) remains the only ther a peu tic option for bone mar row fail ure (BMF). Although HSCT out comes in patients with FA have remark ably improved over the past 20 years, in addi tion to the mor tal ity intrin sic to the pro ce dure, HSCT increases the risk and accel er ates the appear ance of late malig nan cies. HSCT offers the best out come when performed in opti mal con di tions (mod er ate cytopenia shifting to severe, prior to trans fu sion depen dence and before clonal evo lu-tion or myelodysplasia / acute mye loid leu ke mia); hence, an accu rate sur veil lance pro gram is vital. Haploidentical HSCT offers very good out comes, although long -term effects on malig nan cies have not been fully explored. A mon i tor ing plan is also impor tant to iden tify can cers, par tic u larly head and neck car ci no mas, in very early phases. Gene ther apy is still exper i men tal and offers the most encour ag ing results when performed in early phases of BMF by infus ing high num bers of corrected cells with out genotoxic effects. Patients with FA need com pre hen sive mon i tor ing and care plans, coor di-nated by cen ters with exper tise in FA man age ment, that start at diag no sis and con tinue through out life. Such long -term fol low -up is essen tial to detect com pli ca tions related to the dis ease or treat ment in this set ting.