Uçar, CananÇalışkan, ÜmranMartini, SusanneHeinritz, Wolfram2020-03-262020-03-262006Canan, U., Ümran, Ç., Martin, S., Wolfram, H., (2006). Acute Myelomonocytic Leukemia in a Boy With Leopard Syndrome (Ptpn11 Gene Mutation Positive). Journal of Pediatric Hematology/Oncology, 28(3), 123-125.1077-41141536-3678https://hdl.handle.net/20.500.12395/20305The LEOPARD syndrome is a complex of multisystemic congenital abnormalities characterized by lentiginosis, electrocardiographic conduction abnormalities. ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, and deafness (sensorineural). Mutations in PTPNII, a gene encoding the protein tyrosine phosphatase SHP-2 located on chromosome 12q24. 1, have been identified in 88% of patients with LEOPARD syndrome. A missense mutation (836 -> G; Tyr279Cys) in exon 7 of PTPNII gene was identified in this patient and his mother with LEOPARD syndrome. This mutation is one of the two recurrent mutations most often associated with the syndrome. Leukemia has not previously been reported in patients with LEOPARD syndrome. The authors describe a 13-year-old boy diagnosed with both LEOPARD syndrome and acute myelomonocytic leukemia (AML-M4).eninfo:eu-repo/semantics/openAccessLEOPARD syndromeacute myelomonocytic leukemia (AML-M4)PTPN11 gene mutationArticle28312312516679933Q3WOS:000236724600004Q2