Lhermitte-Duclos disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Dysplastic gangliocytoma (Lhermitte-Duclos disease [LDD]) typically presents as a PTEN (phosphatase and tensin homolog)-positive, insidious unilateral mass of the cerebellar cortex.
|
30905649 |
2019 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
|
25756585 |
2015 |
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
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 |
CausalMutation
|
disease |
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Cognitive characteristics of PTEN hamartoma tumor syndromes.
|
23470840 |
2013 |
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
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 |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
|
22628360 |
2012 |
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
|
22266152 |
2012 |
Lhermitte-Duclos disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
|
21659347 |
2011 |
Lhermitte-Duclos disease
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
|
21956414 |
2011 |
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 |
Biomarker
|
disease |
CTD_human |
Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.
|
19968660 |
2010 |