Acute Myelomonocytic Leukemia in a Boy With Leopard Syndrome (Ptpn11 Gene Mutation Positive)
Yükleniyor...
Dosyalar
Tarih
2006
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Lippincott Williams & Wilkins
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
The 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).
Açıklama
Anahtar Kelimeler
LEOPARD syndrome, acute myelomonocytic leukemia (AML-M4), PTPN11 gene mutation
Kaynak
Journal of Pediatric Hematology/Oncology
WoS Q Değeri
Q2
Scopus Q Değeri
Q3
Cilt
28
Sayı
3
Künye
Canan, 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.
