Different outcomes of allogeneic hematopoietic stem cell transplant in a pair of twins affected by juvenile myelomonocytic leukemia

• Published in: International journal of hematology Vol. 99; no. 2; pp. 208 - 212
• Main Authors: Cesaro, Simone, De Filippi, Paola, Di Meglio, Annamaria, Leszl, Anna, Donska, Svetlana, Zaccaron, Ada, Cagioni, Claudia, Galavotti, Roberta, Danesino, Cesare, Aprili, Fiorenza, Cugno, Chiara, te Kronnie, Geertruy, Zecca, Marco, Bresolin, Silvia
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.02.2014; Springer; Springer Nature B.V
• Subjects: Autografts; Biological and medical sciences; Case Report; Cord Blood Stem Cell Transplantation - adverse effects; Diseases in Twins - diagnosis; Diseases in Twins - immunology; Diseases in Twins - metabolism; Diseases in Twins - therapy; Fatal Outcome; Gene Expression Profiling; Gene Expression Regulation, Leukemic; Graft Rejection - immunology; Graft Rejection - physiopathology; Graft Survival; Hematologic and hematopoietic diseases; Hematology; Hematopoietic Stem Cell Transplantation - adverse effects; Humans; Infant; Leukemia, Myelomonocytic, Juvenile - diagnosis; Leukemia, Myelomonocytic, Juvenile - immunology; Leukemia, Myelomonocytic, Juvenile - metabolism; Leukemia, Myelomonocytic, Juvenile - therapy; Male; Medical sciences; Medicine; Medicine & Public Health; Oncology; Prognosis; Remission Induction; Transplantation, Homologous; Treatment Outcome; Twins, Monozygotic; Hematopoietic stem cell transplant; Juvenile myelomonocytic leukemia; Twins; Gene expression-based diagnostic classification; Prognosis; Hematology; Stem cell; Hematopoietic cell; Homograft; Gene expression; Twin; Classification; Diagnosis; Hematopoietic stem cell transplantation
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/s12185-013-1489-3

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.