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Acute Lymphoblastic Leukemia Developing in a Patient With Noonan Syndrome Harboring a PTPN11 Germline Mutation

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

Journal of Pediatric Hematology/Oncology: March 2014 - Volume 36 - Issue 2 - p e136–e139
doi: 10.1097/MPH.0000000000000002
Online Articles: Clinical and Laboratory Observations

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:

Received January 15, 2013

Accepted August 20, 2013

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