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.
*Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine
†Department of Pediatrics, Kyoto Second Red Cross Hospital, Kyoto
‡Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
The authors declare no conflict of interest.
Reprints: Kenichi Sakamoto, MD, Department of Pediatrics, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 465 Kajii-chou, Hirokouji, Kamigyo-ku, Kyoto, Japan (e-mail: firstname.lastname@example.org).
Received January 15, 2013
Accepted August 20, 2013