Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation

J Pediatr Hematol Oncol. 2014 Mar;36(2):e136-9. doi: 10.1097/MPH.0000000000000002.

Abstract

Noonan syndrome (NS) is a congenital genetic disorder characterized by certain facial features, short stature, and congenital heart disease. The disorder is caused by genetic alterations in the RAS/MAPK signal pathway. NS patients show a predisposition to malignancy; however, acute lymphoblastic leukemia (ALL) is rarely reported. Here, we describe a NS patient with B-cell precursor ALL (BCP-ALL) harboring a hyperdiploid karyotype and a PTPN11 germline mutation (c.922A>G; p.N308D). We also discuss the relationship between the hyperdiploid karyotype and genetic alterations in the RAS/MAPK pathway in BCP-ALL.

Publication types

  • Case Reports

MeSH terms

  • Abnormal Karyotype
  • Child
  • DNA Mutational Analysis
  • Female
  • Germ-Line Mutation*
  • Humans
  • Noonan Syndrome / complications
  • Noonan Syndrome / genetics*
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / complications
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*

Substances

  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11