Acute lymphoblastic leukemia developing in a patient with Noonan syndrome harboring a PTPN11 germline mutation.
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.
Kenichi
K
Sakamoto
Toshihiko
T
Imamura
Daisuke
D
Asai
Sachiko
S
Goto-Kawashima
Hideki
H
Yoshida
Atsushi
A
Fujiki
Akiyo
A
Furutani
Hiroyuki
H
Ishida
Yoko
Y
Aoki
Hajime
H
Hosoi
D059786:Abnormal Karyotype; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D009634:Noonan Syndrome / Q000150:complications / Q000235:genetics*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications / Q000235:genetics*; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics*
C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11