Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation
Corresponding Author
Christophe F. Chantrain MD
Department of Pediatric Hematology-Oncology, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Department of Pediatric Hematology Oncology, St-Luc University Hospital, Catholic University of Louvain, 10, Avenue Hippocrate-B 1200 Brussels, Belgium.===Search for more papers by this authorPriscilla Jijon MD
Department of Pediatric Hematology-Oncology, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Search for more papers by this authorThomas De Raedt
Center of Human Genetics, Catholic University of Leuven, Leuven, Belgium
Search for more papers by this authorChristiane Vermylen MD, PhD
Department of Pediatric Hematology-Oncology, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Search for more papers by this authorHélène A. Poirel MD, PhD
Hematological section of the Center for Medical Genetics, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Search for more papers by this authorEric Legius MD, PhD
Center of Human Genetics, Catholic University of Leuven, Leuven, Belgium
Search for more papers by this authorBénédicte Brichard MD, PhD
Department of Pediatric Hematology-Oncology, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Search for more papers by this authorCorresponding Author
Christophe F. Chantrain MD
Department of Pediatric Hematology-Oncology, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Department of Pediatric Hematology Oncology, St-Luc University Hospital, Catholic University of Louvain, 10, Avenue Hippocrate-B 1200 Brussels, Belgium.===Search for more papers by this authorPriscilla Jijon MD
Department of Pediatric Hematology-Oncology, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Search for more papers by this authorThomas De Raedt
Center of Human Genetics, Catholic University of Leuven, Leuven, Belgium
Search for more papers by this authorChristiane Vermylen MD, PhD
Department of Pediatric Hematology-Oncology, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Search for more papers by this authorHélène A. Poirel MD, PhD
Hematological section of the Center for Medical Genetics, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Search for more papers by this authorEric Legius MD, PhD
Center of Human Genetics, Catholic University of Leuven, Leuven, Belgium
Search for more papers by this authorBénédicte Brichard MD, PhD
Department of Pediatric Hematology-Oncology, St-Luc University Hospital, Catholic University of Louvain, Brussels, Belgium
Search for more papers by this authorAbstract
A 4-year-old girl with Noonan syndrome (NS) and constitutive PTPN11 mutation presented with stage 4 neuroblastoma and was treated by intensive chemotherapy. During the treatment, cytogenetic analysis revealed the development of a hyperdiploid clone with duplication of the germline PTPN11 mutation in a morphologically normal bone marrow. A few months later, the patient developed acute myelomonoblastic leukemia with an additional clonal deletion of 7q. Although, we cannot conclude whether there is an association between NS and neuroblastoma, this case suggests that duplication of germline PTPN11 mutations, potentially induced by chemotherapy, contributes to leukemogenesis in patients with NS. Pediatr Blood Cancer 2007;48:101–104. © 2005 Wiley-Liss, Inc.
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