Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

Henk van den Berg; Willem Hans Schreuder; Marjolijn Jongmans; Danielle van Bommel-Slee; Bart Witsenburg; Jan de Lange

doi:10.1016/j.ejmg.2016.05.013

Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

Henk van den Berg, Willem Hans Schreuder, Marjolijn Jongmans, Danielle van Bommel-Slee, Bart Witsenburg, Jan de Lange

Section Oncogenetics

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

Abstract

A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies.

Original language	English
Pages (from-to)	425–428
Journal	European Journal of Medical Genetics
Volume	59
Issue number	8
DOIs	https://doi.org/10.1016/j.ejmg.2016.05.013
Publication status	Published - 2016

Keywords

Noonan syndrome
LEOPARD syndrome
Lentigines
Giant cell tumor
Giant cell granuloma
Mandible
Maxilla

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10.1016/j.ejmg.2016.05.013

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@article{9540e07d67ec471891ebe7e2cbe09b16,

title = "Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines",

abstract = "A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies.",

keywords = "Noonan syndrome, LEOPARD syndrome, Lentigines, Giant cell tumor, Giant cell granuloma, Mandible, Maxilla",

author = "\{van den Berg\}, Henk and Schreuder, \{Willem Hans\} and Marjolijn Jongmans and \{van Bommel-Slee\}, Danielle and Bart Witsenburg and \{de Lange\}, Jan",

year = "2016",

doi = "10.1016/j.ejmg.2016.05.013",

language = "English",

volume = "59",

pages = "425–428",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

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T1 - Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

AU - van den Berg, Henk

AU - Schreuder, Willem Hans

AU - Jongmans, Marjolijn

AU - van Bommel-Slee, Danielle

AU - Witsenburg, Bart

AU - de Lange, Jan

PY - 2016

Y1 - 2016

N2 - A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies.

AB - A patient with Noonan syndrome with multiple lentigines (NSML) and multiple giant cell lesions (MGCL) in mandibles and maxillae is described. A mutation p.Thr468Met in the PTPN11-gene was found. This is the second reported NSML patient with MGCL. Our case adds to the assumption that, despite a different molecular pathogenesis and effect on the RAS/MEK pathway, NSML shares the development of MGCL, with other RASopathies.

KW - Noonan syndrome

KW - LEOPARD syndrome

KW - Lentigines

KW - Giant cell tumor

KW - Giant cell granuloma

KW - Mandible

KW - Maxilla

U2 - 10.1016/j.ejmg.2016.05.013

DO - 10.1016/j.ejmg.2016.05.013

M3 - Article

C2 - 27238887

SN - 1769-7212

VL - 59

SP - 425

EP - 428

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 8

ER -

Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines

Abstract

Keywords

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