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.
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Acknowledgments
The work was support by Associazione Italiana per la Ricerca sul Cancro (AIRC) to S.B., PRIN and Fondazione Cariplo to G.teK. We thank Lifeline Charity Trust for the support to the family and Anna Pegoraro, M.D., for the help editing the manuscript.
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The authors declare that they have no conflict of interest.
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Cesaro, S., De Filippi, P., Di Meglio, A. et al. Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia. Int J Hematol 99, 208–212 (2014). https://doi.org/10.1007/s12185-013-1489-3
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DOI: https://doi.org/10.1007/s12185-013-1489-3