Somatic PTPN11 mutations in childhood acute myeloid leukaemia

Marco Tartaglia, Simone Martinelli, Ivano Iavarone, Giovanni Cazzaniga, Monica Spinelli, Emanuela Giarin, Valentina Petrangeli, Claudio Carta, Riccardo Masetti, Maurizio Aricò, Franco Locatelli, Giuseppe Basso, Mariella Sorcini, Andrea Pession, Andrea Biondi

Research output: Contribution to journalArticlepeer-review


Somatic mutations in PTPN11, the gene encoding the transducer SHP-2, have emerged as a novel class of lesions that upregulate RAS signalling and contribute to leukaemogenesis. In a recent study of 69 children and adolescents with de novo acute myeloid leukaemia (AML), we documented a non-random distribution of PTPN11 mutations among French-American-British (FAB) subtypes. Lesions were restricted to FAB-M5 cases, where they were relatively common (four of 12 cases). Here, we report on the results of a molecular screening performed on 181 additional unselected patients, enrolled in participating institutions of the Associazione Italiana Ematologia Oncologia Pediatrica-AML Study Group, to provide a more accurate picture of the prevalence, spectrum and distribution of PTPN11 mutations in childhood AML and to investigate their clinical relevance. We concluded that PTPN11 defects do not represent a frequent event in this heterogeneous group of malignancies (4-4%), although they recur in a considerable percentage of patients with FAB-M5 (18%). PTPN11 lesions rarely occur in other subtypes. Within the FAB-M5 group no clear association of PTPN11 mutations with any clinical variable was evident. Nearly two third of the patients with this subtype were found to harbour an activating mutation in PTPN11, NRAS, KRAS2 or FLT3.

Original languageEnglish
Pages (from-to)333-339
Number of pages7
JournalBritish Journal of Haematology
Issue number3
Publication statusPublished - May 2005


  • Childhood acute myeloid leukaemia
  • FAB-M5 subtype
  • PTPN11
  • SHP-2
  • Somatic mutation

ASJC Scopus subject areas

  • Hematology


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