title: Factor V Leiden and allogeneic bone marrow transplantation: chimerism as a confounding factor in genetic test interpretation.
abstract: Factor V Leiden is one of the most common genetic conditions predisposing to venous thrombosis. Diagnosis is currently made by plasma activity assay for activated protein C (APC) resistance or polymerase chain reaction (PCR)-based DNA assay. The occurrence of factor V Leiden is reported in a patient affected by acute myeloid leukaemia submitted to allogeneic bone marrow transplantation from an HLA identical sister. The donor was not affected by the factor V mutation. The patient did not develop thrombosis during induction and consolidation chemotherapy and the post-transplantation course was not complicated by thrombosis or veno-occlusive disease. At engraftment, PCR analysis showed the disappearance of factor V Leiden. Genetic tests on DNA after allogeneic marrow transplantation should be carefully interpreted as a result of donor chimerism.
authors.affiliation: Divisione Ematologia, Istituto Di Semeiotica Medica, Universita' Cattolica Sacro Cuore, Roma, Italia.
authors.forename: P
authors.initials: P
authors.lastname: Chiusolo
authors.forename: S
authors.initials: S
authors.lastname: Sica
authors.forename: P
authors.initials: P
authors.lastname: Salutari
authors.forename: G
authors.initials: G
authors.lastname: D'Onofrio
authors.forename: V D
authors.initials: VD
authors.lastname: Stefano
authors.forename: N P
authors.initials: NP
authors.lastname: Ccirillo
authors.forename: G
authors.initials: G
authors.lastname: Leone
mesh_terms: D016026:Bone Marrow Transplantation; D005165:Factor V / Q000235:genetics*; D006680:HLA Antigens; D006650:Histocompatibility Testing; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000628:therapy*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D018183:Transplantation Chimera; D014184:Transplantation, Homologous
chemical_list: D006680:HLA Antigens; C095381:factor V Leiden; D005165:Factor V