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: Simone Cesaro, Paola De Filippi, Annamaria Di Meglio, Anna Leszl, Svetlana Donska, Ada Zaccaron, Claudia Cagioni, Roberta Galavotti, Cesare Danesino, Fiorenza Aprili, Chiara Cugno, Geertruy te Kronnie, Marco Zecca, Silvia Bresolin
• Journal: International journal of hematology (Int J Hematol) Vol. 99 Issue 2 Pg. 208-12 (Feb 2014) ISSN: 1865-3774 [Electronic] Japan
• PMID: 24338706 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

• Cord Blood Stem Cell Transplantation (adverse effects)
• Diseases in Twins (diagnosis, immunology, metabolism, therapy)
• Fatal Outcome
• Gene Expression Profiling
• Gene Expression Regulation, Leukemic
• Graft Rejection (immunology, physiopathology)
• Graft Survival
• Hematopoietic Stem Cell Transplantation (adverse effects)
• Humans
• Infant
• Leukemia, Myelomonocytic, Juvenile (diagnosis, immunology, metabolism, therapy)
• Male
• Prognosis
• Remission Induction
• Transplantation, Homologous
• Treatment Outcome
• Twins, Monozygotic