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Therapy‐related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation
Author(s) -
Chantrain Christophe F.,
Jijon Priscilla,
De Raedt Thomas,
Vermylen Christiane,
Poirel Hélène A.,
Legius Eric,
Brichard Bénédicte
Publication year - 2007
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20527
Subject(s) - ptpn11 , noonan syndrome , medicine , gene duplication , germline mutation , germline , neuroblastoma , mutation , clone (java method) , leukemia , cancer research , blood cancer , myeloid leukemia , bone marrow , cancer , immunology , genetics , biology , gene , colorectal cancer , kras , cell culture
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.