Skip Navigation LinksHome > March 2014 - Volume 36 - Issue 2 > Acute Lymphoblastic Leukemia Developing in a Patient With No...
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Journal of Pediatric Hematology/Oncology:
doi: 10.1097/MPH.0000000000000002
Online Articles: Clinical and Laboratory Observations

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*

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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.

Copyright © 2013 by Lippincott Williams & Wilkins

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