Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)706-709
Number of pages4
JournalBritish Journal of Haematology
Volume147
Issue number5
DOIs
Publication statusPublished - Dec 2009

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Juvenile Myelomonocytic Leukemia
Germ-Line Mutation
Mutation
Genes
Eyebrows
Myeloproliferative Disorders
Granulocyte-Macrophage Progenitor Cells
Forehead
Cheek
Nose
Hair
Ear
Exons
Blood Cells
Endothelial Cells
Fibroblasts
Skin

Keywords

  • JMML
  • Noonan
  • PTPN11
  • RAS

ASJC Scopus subject areas

  • Hematology

Cite this

Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia. / De Filippi, Paola; Zecca, Marco; Lisini, Daniela; Rosti, Vittorio; Cagioni, Claudia; Carlo-Stella, Carmelo; Radi, Orietta; Veggiotti, Pierangelo; Mastronuzzi, Angela; Acquaviva, Antonio; D'Ambrosio, Alfonso; Locatelli, Franco; Danesino, Cesare.

In: British Journal of Haematology, Vol. 147, No. 5, 12.2009, p. 706-709.

Research output: Contribution to journalArticle

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AU - Cagioni, Claudia

AU - Carlo-Stella, Carmelo

AU - Radi, Orietta

AU - Veggiotti, Pierangelo

AU - Mastronuzzi, Angela

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