title: Common acute lymphoblastic leukemia in a girl with genetically confirmed LEOPARD syndrome.
abstract: Germline mutations in PTPN11 gene cause Noonan syndrome and the clinically similar LEOPARD syndrome (LS). LS is a rare congenital developmental disorder characterized by multiple lentigines, cardiac abnormalities, facial dysmorphism, retardation of growth, and deafness. Mutations in exons 7 and 12 of the PTPN11 gene can be identified in nearly 90% of patients with LS. PTPN11 gene encodes for an ubiquitously expressed protein tyrosine phosphatase SHP-2 involved in a variety of intracellular signaling processes in development and hematopoiesis. Somatic PTPN11 mutations contribute to leukemogenesis in children with hematologic malignancies including juvenile myelomonocytic leukemia, acute lymphoblastic leukemia, acute myeloid leukemia, and myelodysplasia. Two cases of leukemia (acute myeloid leukemia) have been reported in children with LS. The authors describe for the first time a girl with genetically confirmed LEOPARD syndrome presenting with common acute lymphoblastic leukemia.
authors.affiliation: Pediatric Hematology and Oncology Unit, Department of Pediatrics, HELIOS Klinikum Erfurt, Erfurt, Germany. danilaux@yahoo.de
authors.forename: Daniela
authors.initials: D
authors.lastname: Laux
authors.forename: Christian
authors.initials: C
authors.lastname: Kratz
authors.forename: Axel
authors.initials: A
authors.lastname: Sauerbrey
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D002648:Child; D005260:Female; D006801:Humans; D044542:LEOPARD Syndrome / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D020125:Mutation, Missense; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11