Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia |
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| Authors: | Paola De Filippi Marco Zecca Daniela Lisini Vittorio Rosti Claudia Cagioni Carmelo Carlo-Stella Orietta Radi Pierangelo Veggiotti Angela Mastronuzzi Antonio Acquaviva Alfonso D'Ambrosio Franco Locatelli Cesare Danesino |
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| Affiliation: | Medical Genetics, Department of Human and Hereditary Pathology, University of Pavia, Pavia;, Paediatric Haematology/Oncology, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia;, Area Trapiantologica, Fondazione IRCCS Policlinico San Matteo, Pavia;, Oncologia Medica, Fondazione IRCCS Istituto Nazionale Tumori, Milano;, Child Neuropsychiatry Unit, Department of Child Neurology and Psychiatry, IRCCS C. Mondino Foundation, University of Pavia, Pavia;, Paediatric Haematology/Oncology, Department of Paediatrics, Obstetrics and Reproductive Medicine, University of Siena, Siena;, and Medical Genetics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy |
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| Abstract: | We report the case of a child with clinical and haematological features indicative of juvenile myelomonocytic leukaemia (JMML). The patient showed dysmorphic features: high forehead, bilateral epicanthal folds, long eyebrows, low nasal bridge and slightly low-set ears. A 38G>A (G13D) mutation in exon 1 of the NRAS gene was first demonstrated on peripheral blood cells, and then confirmed on granulocyte-macrophage colony-forming units. The same mutation was also found in buccal swab, hair bulbs, endothelial cells, skin fibroblasts. This case suggests for the first time that constitutional mutations of NRAS may be responsible for development of a myeloproliferative/myelodysplastic disorder in children. |
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| Keywords: | JMML RAS PTPN11 Noonan |
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