Acute lymphoblastic leukemia developing in a patient with noonan syndrome harboring a PTPN11 germline mutation

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

doi:10.1097/MPH.0000000000000002

Acute lymphoblastic leukemia developing in a patient with noonan syndrome harboring a PTPN11 germline mutation

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

MED - Public Health

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Pages (from-to)	e136-e139
Journal	Journal of Pediatric Hematology/Oncology
Volume	36
Issue number	2
DOIs	https://doi.org/10.1097/MPH.0000000000000002
Publication status	Published - 2014 Mar

Keywords

acute lymphoblastic leukemia
hyperdiploid karyotype
Noonan syndrome
PTPN11
RAS/MAPK syndromes

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10.1097/MPH.0000000000000002

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title = "Acute lymphoblastic leukemia developing in a patient with noonan syndrome harboring a PTPN11 germline mutation",

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.",

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author = "Kenichi Sakamoto and Toshihiko Imamura and Daisuke Asai and Sachiko Goto-Kawashima and Hideki Yoshida and Atsushi Fujiki and Akiyo Furutani and Hiroyuki Ishida and Yoko Aoki and Hajime Hosoi",

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T1 - Acute lymphoblastic leukemia developing in a patient with noonan syndrome harboring a PTPN11 germline mutation

AU - Sakamoto, Kenichi

AU - Imamura, Toshihiko

AU - Asai, Daisuke

AU - Goto-Kawashima, Sachiko

AU - Yoshida, Hideki

AU - Fujiki, Atsushi

AU - Furutani, Akiyo

AU - Ishida, Hiroyuki

AU - Aoki, Yoko

AU - Hosoi, Hajime

PY - 2014/3

Y1 - 2014/3

N2 - 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.

AB - 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.

KW - acute lymphoblastic leukemia

KW - hyperdiploid karyotype

KW - Noonan syndrome

KW - PTPN11

KW - RAS/MAPK syndromes

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ER -

Acute lymphoblastic leukemia developing in a patient with noonan syndrome harboring a PTPN11 germline mutation

Abstract

Keywords

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