Het Bannayan-Riley-Ruvalcaba-syndroom: Onderdeel van het PTEN-hamartoomtumor-syndroom

M. G.H.C. Reinders; J. J. Hoefnagel; D. E. Fransen Van De Putte; R. Van Doorn

Het Bannayan-Riley-Ruvalcaba-syndroom: Onderdeel van het PTEN-hamartoomtumor-syndroom

Translated title of the contribution: The Bannayan-Riley-Ruvalcaba syndrome: Part of the PTEN hamartoma tumor syndrome

M. G.H.C. Reinders, J. J. Hoefnagel, D. E. Fransen Van De Putte, R. Van Doorn

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

Abstract

A 3-year-old girl presented to our outpatient clinic with multiple lipomas and macrocephaly. DNA analysis revealed a germline mutation in the PTEN gene confirming our clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome. PTEN mutations are also found in Cowden syndrome, Proteus and Proteus-like syndrome. Because of a common site of the mutation in the PTEN tumor suppressor gene and a common clinical phenotype, these syndromes are jointly termed the PTEN hamartoma tumor syndrome. These clinically heterogeneous syndromes share a predisposition to the development of a variety of benign and malignant tumors.

Translated title of the contribution	The Bannayan-Riley-Ruvalcaba syndrome: Part of the PTEN hamartoma tumor syndrome
Original language	Dutch
Pages (from-to)	245-248
Number of pages	4
Journal	Nederlands Tijdschrift voor Dermatologie en Venereologie
Volume	20
Issue number	5
Publication status	Published - 1 May 2010

Keywords

Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Proteus syndrome
PTEN gene
PTEN hamartoma tumor syndrome

Cite this

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title = "Het Bannayan-Riley-Ruvalcaba-syndroom: Onderdeel van het PTEN-hamartoomtumor-syndroom",

abstract = "A 3-year-old girl presented to our outpatient clinic with multiple lipomas and macrocephaly. DNA analysis revealed a germline mutation in the PTEN gene confirming our clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome. PTEN mutations are also found in Cowden syndrome, Proteus and Proteus-like syndrome. Because of a common site of the mutation in the PTEN tumor suppressor gene and a common clinical phenotype, these syndromes are jointly termed the PTEN hamartoma tumor syndrome. These clinically heterogeneous syndromes share a predisposition to the development of a variety of benign and malignant tumors.",

keywords = "Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Proteus syndrome, PTEN gene, PTEN hamartoma tumor syndrome",

author = "Reinders, {M. G.H.C.} and Hoefnagel, {J. J.} and {Fransen Van De Putte}, {D. E.} and {Van Doorn}, R.",

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T2 - Onderdeel van het PTEN-hamartoomtumor-syndroom

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AU - Hoefnagel, J. J.

AU - Fransen Van De Putte, D. E.

AU - Van Doorn, R.

PY - 2010/5/1

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N2 - A 3-year-old girl presented to our outpatient clinic with multiple lipomas and macrocephaly. DNA analysis revealed a germline mutation in the PTEN gene confirming our clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome. PTEN mutations are also found in Cowden syndrome, Proteus and Proteus-like syndrome. Because of a common site of the mutation in the PTEN tumor suppressor gene and a common clinical phenotype, these syndromes are jointly termed the PTEN hamartoma tumor syndrome. These clinically heterogeneous syndromes share a predisposition to the development of a variety of benign and malignant tumors.

AB - A 3-year-old girl presented to our outpatient clinic with multiple lipomas and macrocephaly. DNA analysis revealed a germline mutation in the PTEN gene confirming our clinical diagnosis of Bannayan-Riley-Ruvalcaba syndrome. PTEN mutations are also found in Cowden syndrome, Proteus and Proteus-like syndrome. Because of a common site of the mutation in the PTEN tumor suppressor gene and a common clinical phenotype, these syndromes are jointly termed the PTEN hamartoma tumor syndrome. These clinically heterogeneous syndromes share a predisposition to the development of a variety of benign and malignant tumors.

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KW - Cowden syndrome

KW - Proteus syndrome

KW - PTEN gene

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JO - Nederlands Tijdschrift voor Dermatologie en Venereologie

JF - Nederlands Tijdschrift voor Dermatologie en Venereologie

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Het Bannayan-Riley-Ruvalcaba-syndroom: Onderdeel van het PTEN-hamartoomtumor-syndroom

Abstract

Keywords

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