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• W2067955480 abstract "The overall risk of cancer in children with Noonan (NS), cardio-facial-cutaneous, Costello or LEOPARD syndrome is high, although no precise estimates are available. There are few data on cancer in adults with NS, but the reported numbers of malignancies in adults do not seem excessive. Juvenile myelomonocytic leukemia (JMML) is a rare aggressive leukemia in young children. A JMML-like myeloproliferative disorder has been described in about 30 neonates with NS and the <i>PTPN11</i> mutation. The disorder often regresses spontaneously, but fatal complications may occur. A review of the literature indicates an increased risk of acute lymphoblastic leukemia and acute myeloid leukemia in NS. Young children with Costello syndrome have an extremely high risk of rhabdomyosarcoma, and also an increased risk of neuroblastoma and bladder carcinoma. Registry-based studies of patients with NS and related disorders diagnosed with molecular genetics and a high-quality long-term follow-up are necessary to further estimate the incidence of malignancy." @default.
• W2067955480 created "2016-06-24" @default.
• W2067955480 creator A5073788325 @default.
• W2067955480 date "2009-01-01" @default.
• W2067955480 modified "2023-10-03" @default.
• W2067955480 title "Malignant Diseases in Noonan Syndrome and Related Disorders" @default.
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• W2067955480 doi "https://doi.org/10.1159/000243773" @default.
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