TY - JOUR
T1 - Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia
AU - Cesaro, Simone
AU - De Filippi, Paola
AU - Di Meglio, Annamaria
AU - Leszl, Anna
AU - Donska, Svetlana
AU - Zaccaron, Ada
AU - Cagioni, Claudia
AU - Galavotti, Roberta
AU - Danesino, Cesare
AU - Aprili, Fiorenza
AU - Cugno, Chiara
AU - Te Kronnie, Geertruy
AU - Zecca, Marco
AU - Bresolin, Silvia
PY - 2014/2
Y1 - 2014/2
N2 - 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.
AB - 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.
KW - Gene expression-based diagnostic classification
KW - Hematopoietic stem cell transplant
KW - Juvenile myelomonocytic leukemia
KW - Twins
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U2 - 10.1007/s12185-013-1489-3
DO - 10.1007/s12185-013-1489-3
M3 - Article
C2 - 24338706
AN - SCOPUS:84894457523
VL - 99
SP - 208
EP - 212
JO - International Journal of Hematology
JF - International Journal of Hematology
SN - 0925-5710
IS - 2
ER -