|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lhermitte-Duclos disease is a rare hamartomatous tumor of the cerebellum resulting from a mutation in the phosphatase and tensin homolog (PTEN) gene: it has been reported in fewer than 10 infants.
|
27932596 |
2017 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This case of Lhermitte-Duclos disease associated with paraspinal AVF and mutation of the PTEN gene suggests a relationship between Lhermitte-Duclos disease and Cowden disease.
|
16998279 |
2006 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
|
17942903 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
|
22261759 |
2012 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
At 6 months before his death, the patient complained of hoarseness and dysphagia, and clinical whole-body examinations revealed advanced lung adenocarcinoma (T4N2M1b, Stage IV), multiple skin verrucas, gastrointestinal polyposis, goiters, and cerebellar dysplastic gangliocytoma (Lhermitte-Duclos disease), while PTEN gene mutation was detected in his serum.
|
26376867 |
2015 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
It remains unclear whether all cases of LDD, even without features of CS, are caused by germline PTEN mutation and whether somatic PTEN mutation occurs in sporadic LDD.
|
14566704 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations of PTEN can also be found in patients with Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum).
|
17941496 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
|
21828076 |
2011 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A heterozygous frameshift mutation of the PTEN/MMAC1 gene in a patient with Lhermitte-Duclos disease - only the mutated allele was expressed in the cerebellar tumor.
|
9852626 |
1998 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LDD is often not associated with CD and germline PTEN mutations seem not to be present in isolated LDD.
|
12690565 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report on a patient with CD and LDD in whom a unique de novo germline missense mutation is present in the PTEN gene.
|
10051160 |
1999 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
|
24375884 |
2014 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
We obtained paraffin-embedded LDD lesions from 18 unselected, unrelated patients and performed mutational analysis of PTEN.
|
14566704 |
2003 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
|
10400993 |
1999 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
|
27477328 |
2017 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Cowden syndrome with PTEN gene mutation, linked to higher risk of neoplasia and occurrence of hamartomatous lesions characteristic of the Lhermitte-Duclos disease (LDD), was confirmed by genetic investigation.
|
30153148 |
2018 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
|
25756585 |
2015 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition, the differential PTEN mutation status with corresponding LDD phenotypes suggests a potential correlation between germline or somatic mutation and coexisting LDD/CS or isolated LDD, respectively.
|
24102544 |
2014 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A candidate tumour suppressor gene, PTEN, has recently been identified within chromosome 10q23, the locus of the Cowden syndrome/Lhermitte Duclos disease susceptibility gene.
|
9764804 |
1998 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease.
|
17427195 |
2007 |
|
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
CTD_human |
PTEN mutation in a family with Cowden syndrome and autism.
|
11496368 |
2001 |
|
Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysregulation of cell growth control by PTEN is associated with the neurological disorder Lhermitte-Duclos disease.
|
12367630 |
2002 |