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

Kenichi Sakamoto, Toshihiko Imamura, Daisuke Asai, Sachiko Goto-Kawashima, Hideki Yoshida, Atsushi Fujiki, Akiyo Furutani, Hiroyuki Ishida, Yoko Aoki, Hajime Hosoi

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

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.

Original languageEnglish
JournalJournal of Pediatric Hematology/Oncology
Volume36
Issue number2
DOIs
Publication statusPublished - 2014 Mar 1

Keywords

  • Noonan syndrome
  • PTPN11
  • RAS/MAPK syndromes
  • acute lymphoblastic leukemia
  • hyperdiploid karyotype

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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