title: Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia.
abstract: A twin pair affected by juvenile myelomonocytic leukemia (JMML) with the same somatic PTPN11 mutation and abnormal chromosome 7 in bone marrow samples but distinct prognostic gene expression signatures, received a matched-unrelated donor and matched-unrelated cord blood transplant, respectively. Both twins fully engrafted, but after 6 months, the twin with an acute-myeloid-like (AML-like) signature at diagnosis rejected the graft and had an autologous reconstitution. A second transplant with an unrelated 5/6-HLA-matched-loci cord blood performed after 4 months from rejection was unsuccessful. After 25 months from diagnosis, the twin with the AML-like gene expression signature died of liver failure while on progression of his JMML. The other twin, who had a non-acute-myeloid-like (non-AML-like) gene expression signature at diagnosis is in complete hematological remission with full donor chimera. This observation suggests a biological diversity of JMML also in patients with a common genetic background.
authors: Pediatric Hematology Oncology, Azienda Ospedaliera Universitaria Integrata, Piazzale L.A. Scuro, 10 Policlinico G.B. Rossi, 37134, Verona, Italy, simone.cesaro@ospedaleuniverona.it.
authors: Simone
authors: S
authors: Cesaro
authors: Paola
authors: P
authors: De Filippi
authors: Annamaria
authors: A
authors: Di Meglio
authors: Anna
authors: A
authors: Leszl
authors: Svetlana
authors: S
authors: Donska
authors: Ada
authors: A
authors: Zaccaron
authors: Claudia
authors: C
authors: Cagioni
authors: Roberta
authors: R
authors: Galavotti
authors: Cesare
authors: C
authors: Danesino
authors: Fiorenza
authors: F
authors: Aprili
authors: Chiara
authors: C
authors: Cugno
authors: Geertruy
authors: G
authors: te Kronnie
authors: Marco
authors: M
authors: Zecca
authors: Silvia
authors: S
authors: Bresolin
mesh_terms: D036101:Cord Blood Stem Cell Transplantation / Q000009:adverse effects; D004200:Diseases in Twins / Q000175:diagnosis / Q000276:immunology / Q000378:metabolism / Q000628:therapy*; D017809:Fatal Outcome; D020869:Gene Expression Profiling; D015973:Gene Expression Regulation, Leukemic; D006084:Graft Rejection / Q000276:immunology / Q000503:physiopathology*; D006085:Graft Survival; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects*; D006801:Humans; D007223:Infant; D054429:Leukemia, Myelomonocytic, Juvenile / Q000175:diagnosis / Q000276:immunology / Q000378:metabolism / Q000628:therapy*; D008297:Male; D011379:Prognosis; D012074:Remission Induction; D014184:Transplantation, Homologous; D016896:Treatment Outcome; D014430:Twins, Monozygotic