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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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 © 2014 Wolters Kluwer Health, Inc. All rights reserved.


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