2,245 results match your criteria: "Cowden Disease Multiple Hamartoma Syndrome"
Dysplastic ganglion cell tumor of the right cerebellum: A case report and literature review.
Medicine (Baltimore)
December 2024
Department of Neurosurgery, The First Affiliated Hospital of Shihezi University, Shihezi, China.
Rationale: This study aims to present a case of cerebellar dysplastic ganglioneuroma, which is commonly referred to as Lhermitte-Duclos disease (LDD). Furthermore, the study aims to provide an extensive review of the essential aspects of LDD, thereby providing essential information for its accurate diagnosis and effective treatment.
Patient Concerns: A 54-year-old woman was admitted with symptoms of headache, facial numbness, and a visible cerebellar mass.
Importance: A subset of thyroid cancers develops in a setting of a known hereditary cancerassociated syndrome. Understanding the population prevalence of thyroid cancer-associated syndromes is important to guide germline genetic testing and clinical management.
Objective: To estimate the prevalence of the major thyroid cancer-associated syndromes in the United States using the All of Us Research Program (AoU) data.
Cancer and disease profiles for PTEN pathogenic variants in Japanese population.
J Hum Genet
December 2024
Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
A germline alteration in the PTEN gene causes a spectrum of disorders conceptualized as PTEN hamartoma tumor syndrome (PHTS), which show high risk of tumor development and a highly variable and complex phenotype. The diagnosis of PHTS is established in a proband by identification of a heterozygous germline PTEN pathogenic variant on molecular genetic testing. In this study, to understand more PTEN-associated clinical phenotype and PHTS in a Japanese population, we extracted 128 germline PTEN rare variants from 113,535 adult Japanese registered in Biobank Japan (BBJ), and categorized 29 pathogenic/likely pathogenic variants in 30 individuals (0.
View Article and Find Full Text PDFPathologists' integration of prior biopsies of women with germline PTEN mutations may expedite the identification of this rare cancer predisposition syndrome.
Pathology
October 2024
Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, SA, Australia.
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) is a rare genetic condition linked to mutations in the PTEN gene, causing increased cancer risks and benign lesions across various organs.
- A study conducted over 28 years examined the biopsy histories of 12 women with PTEN mutations, revealing that most presented with benign mucocutaneous lesions and significant breast cancer development, with only one having a known family history of Cowden syndrome.
- The findings suggest that analyzing past biopsies can help identify underlying cancer susceptibility syndromes like PHTS, leading to better clinical and genetic counseling for affected individuals.
Management of Children with Megafoot Secondary to Proteus Syndrome: A Report of Three Cases with Long-Term Follow-Up.
J Am Podiatr Med Assoc
November 2024
*Department of Orthopaedics and Traumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Proteus syndrome is a rare disorder characterized by overgrowth of limbs and organs and neurocutaneous findings.
Methods: We examined three Proteus syndrome cases with unilateral foot enlargement, megafoot. The patients had ambulatory and cosmetic difficulties.
[Thyroid cancer in a child with Cowden syndrome].
Probl Endokrinol (Mosk)
November 2024
Izhevsk State Medical Academy.
Article Synopsis
- - Cowden syndrome, caused by mutations in the PTEN gene, increases the risk of various tumors due to disrupted cell cycle regulation, leading to unchecked cell growth throughout a person's life.
- - A clinical case presented discusses a 7-year-old patient with typical features of Cowden syndrome, including macrocephaly and skin manifestations like trichilemmomas and keratosis, alongside benign and malignant tumors.
- - Common malignancies associated with Cowden syndrome are breast, thyroid, colorectal, renal cell, and endometrial cancers, with thyroid cancer often developing early in childhood, necessitating regular screenings for affected individuals.
Re-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study.
Pathology
September 2024
Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; CARADERM Network, France; 'Biologie des infections à polyomavirus' Team, UMR INRA ISP 1282, Université de Tours, Tours, France.
Article Synopsis
- - Naevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic condition caused by mutations in the Sonic Hedgehog (SHH) pathway, leading to early development of multiple basal cell carcinomas (BCCs) and related skin tumors like basaloid follicular hamartoma (BFH).
- - A study analyzed 140 skin tumors from NBCCS patients and 140 control BCC tumors to compare their morphological characteristics, finding that BFH was exclusively present in NBCCS patients and had distinct histopathological features.
- - The research indicates that BFH could represent precursors to BCC, as it was identified in up to 24% of the tumors in NBCCS patients, with possible
Neuromodulation strategies in developmental and epileptic encephalopathies.
Epilepsy Behav
November 2024
Department of Neurosurgery, Mass General Brigham, Harvard Medical School, Boston, MA 02115, USA.
Article Synopsis
- Developmental and epileptic encephalopathies (DEEs) are serious childhood epilepsy syndromes with frequent seizures and significant cognitive impairments, often not responding to standard treatments.
- Recent advancements in neuromodulation techniques like deep brain stimulation (DBS) and responsive neurostimulation (RNS) show promise in managing these conditions by targeting specific brain networks involved in seizures.
- Initial findings, particularly with DBS for Lennox-Gastaut syndrome (LGS), indicate some effectiveness, but mixed results across various DEEs highlight the need for a better understanding of brain networks to guide optimal treatment strategies.
Genetic Predisposition for Gynecologic Cancers.
Clin Obstet Gynecol
December 2024
Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, Comprehensive Cancer Center, University of Virginia Health, Charlottesville, Virginia.
Article Synopsis
- Hereditary cancer syndromes account for up to 10% of all cancers and are often detected after a cancer diagnosis, indicating a need for earlier testing.
- Primary care providers, especially obstetrician-gynecologists, can play a crucial role in assessing hereditary cancer risks through family history and genetic testing.
- Identifying hereditary cancer genes can lead to proactive prevention strategies, including better screenings and personalized care plans, particularly for common gynecologic hereditary cancer syndromes.
DYNC2H1 splicing variants causing severe prenatal short-rib polydactyly syndrome and postnatal orofaciodigital syndrome.
Ann Hum Genet
January 2025
Genetics Service, São João Universitary Hospital Center, Porto, Portugal.
Article Synopsis
- The DYNC2H1 gene is linked to short-rib polydactyly syndrome (SRPS) and other skeletal ciliopathies, with two unique cases highlighting distinct phenotypes caused by splicing variants.
- The first case involved a 14-week-old fetus with severe malformations and two compound heterozygous variants that were initially uncertain but later deemed likely pathogenic after further testing.
- The second case presented an 11-year-old boy with various physical abnormalities and identified variants in DYNC2H1, underscoring the gene's role in conditions like SRPS and orofaciodigital syndrome, enhancing understanding of splicing variants' impacts.
Classification of germline non-truncating variants: a new approach to interpretation.
J Med Genet
November 2024
Cancer Genetics Unit, Institut Bergonié, Bordeaux, Aquitaine, France.
Article Synopsis
- PTEN hamartoma tumour syndrome (PHTS) includes syndromes like Cowden syndrome, with missense variants making up 30% of PHTS cases, yet their classification is complex.
- A study from the Bergonie Institute identified 76 non-truncating variants in 166 patients, developing a new classification method using criteria like functional analysis, phenotypic features, and familial patterns.
- The new approach successfully reclassifies 25 variants, revealing the need to update current classification standards based on multiple factors, and it requires further validation in future research.
Quantitative evaluation of DNA damage repair dynamics to elucidate predictors of autism vs. cancer in individuals with germline PTEN variants.
PLoS Comput Biol
October 2024
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio, United States of America.
Article Synopsis
Constitutional Mutation of : A Variant of Cowden Syndrome?
Genes (Basel)
September 2024
Medical Oncology Department, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), 28034 Madrid, Spain.
Article Synopsis
- Among the other affected relatives, one has ovarian cysts and thyroid issues, while the rest have multinodular goiter; a deceased sister had multiple ovarian and thyroid cancers.
- This suggests the gene in question should be evaluated in families with similar cancer backgrounds, contributing to understanding how it relates to hereditary breast and ovarian cancer syndromes.
The Genomic Landscape of Benign and Malignant Thyroid Tumors from Individuals Carrying Germline PTEN Variants Is Distinct from Sporadic Thyroid Cancers.
Cancer Res
November 2024
Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, Ohio.
Article Synopsis
Severe lupus nephritis in a young adult with PTEN hamartoma tumour syndrome.
BMJ Case Rep
September 2024
Department of Internal Medicine, Kantonsspital Graubünden, Chur, Graubünden, Switzerland
Article Synopsis
- * Mutations in this gene are linked to hamartoma tumor syndrome, leading to various disorders, including Bannayan-Riley-Ruvalcaba and Cowden syndromes.
- * A recent case study describes a man in his late 20s with a PTEN mutation, who developed lupus nephritis, indicating a possible connection between the mutation and immune system dysregulation.
A systematic review of Bannayan - Riley - Ruvalcaba syndrome.
Sci Rep
September 2024
Faculty of Medicine, Vilnius University, M.K. Čiurlionio g. 21, 03101, Vilnius, Lithuania.
Article Synopsis
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare genetic condition linked to the PTEN gene, characterized by overgrowth and significant variability in symptoms.
- A systematic review of 83 pediatric cases revealed that common symptoms include macrocephaly and developmental disorders, with surgery being the primary treatment approach.
- Early identification and referral to a geneticist are crucial for managing BRRS, as current treatment options are limited, focusing mainly on symptom relief and long-term monitoring for cancer risk.
Clinical Neurologic Features and Evaluation of PTEN Hamartoma Tumor Syndrome: A Systematic Review.
Neurology
October 2024
From the Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, OH.
Background And Objectives: PTEN hamartoma tumor syndrome (PHTS) is a well-recognized hereditary tumor syndrome and is now also recognized as a common cause of monogenic autism spectrum disorder. There is a vast spectrum of phenotypic variability across individuals with PHTS, and in addition to neurodevelopmental challenges, patients with PHTS may experience a wide variety of neurologic challenges, many of which have only recently been described. Thus, this systematic review aimed to summarize the breadth of the current knowledge of neurologic conditions in individuals with PHTS.
View Article and Find Full Text PDFSirolimus for vascular anomalies associated with PTEN hamartoma tumor syndrome.
Pediatr Blood Cancer
November 2024
Division of Paediatric Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Article Synopsis
- PTEN hamartoma tumor syndrome (PHTS) is a rare condition that increases the risk of tumors and is linked to vascular anomalies.
- A study reviewed seven children with PHTS treated with sirolimus, an mTOR inhibitor, with a median age of 10 years at treatment initiation.
- After 2.5 years, 86% of patients showed significant improvement, with only minor side effects like mild buccal ulcers and acne, suggesting sirolimus is a safe and effective treatment for vascular issues in PHTS.
Cowden Syndrome: A Rare Cause of Intestinal Polyposis.
Cureus
July 2024
Department of Pediatrics, Salmaniya Medical Complex, Manama, BHR.
Article Synopsis
- - Cowden syndrome (CS) is a rare genetic disorder that leads to multiple hamartomata lesions from all embryonic layers, primarily affecting the gastrointestinal system and leading to an increased risk of certain cancers, including thyroid and breast cancer.
- - The initial symptoms of CS typically include mucocutaneous issues like trichilemmomas and oral papillomas, making early diagnosis and management crucial for improving patient outcomes.
- - A case study is presented involving a Bahraini child with macrocephaly and extensive intestinal polyposis, with genetic testing confirming CS through a pathogenic variant in the PTEN gene.
Acute acquired comitant esotropia associated with Lhermitte-Duclos disease: a case report.
J Med Case Rep
August 2024
Department of Ophthalmology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
Article Synopsis
- Acute acquired comitant esotropia, often linked to prolonged near work with digital devices, requires intracranial examination even in nonparalytic cases.
- A 16-year-old female found to have Lhermitte-Duclos disease presented with this condition, alongside a cerebellar tumor and obstructive hydrocephalus, leading to her diagnosis.
- Despite partial tumor resection not resolving her esotropia, strabismus surgery successfully eliminated her diplopia, highlighting the importance of neurological assessments for proper treatment.
Increased frequency of infections and autoimmune disease in adults with PTEN Hamartoma Tumour Syndrome.
Eur J Med Genet
August 2024
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:
Article Synopsis
- The study investigates immune dysregulation in patients with PTEN Hamartoma Tumour Syndrome (PHTS) by comparing infection and autoimmune disease rates in 81 pediatric and 109 adult PHTS patients to 73 female adult controls.
- Pediatric PHTS patients reported low rates of infections and autoimmune disease, while adult patients had significantly higher instances of viral infections, bacterial infections, and autoimmune conditions compared to the control group.
- Findings suggest that adult PHTS patients experience a more extensive range of immune-related issues, indicated by frequent infections and a higher prevalence of autoimmune diseases.
Autopsy case of linear nevus sebaceous syndrome with KRAS (G12D) mutation.
Pathol Int
September 2024
Department of Regional Neonatal and Perinatal Medicine, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Article Synopsis
- Linear nevus sebaceous syndrome (LNSS) is a neurocutaneous disorder linked to RAS gene mutations, affecting various organs including skin and the brain.
- A case report details the autopsy of a Japanese boy with LNSS who faced serious complications like hydrocephalus and congenital heart issues, leading to his death at six months old.
- Genetic testing revealed a KRAS G12D mutation in a skin sample but not in blood, indicating a postzygotic mutation, and autopsy findings uncovered new pathological issues such as intracranial lipomatous hamartoma.
Gyratory Seizures in Hypothalamic Hamartoma.
J Epilepsy Res
June 2024
Department of Neurology, Meitra Hospital, Calicut, India.
Article Synopsis
- * A 25-year-old female patient with a history of seizures experienced gelastic seizures (inappropriate laughter) and developed GS to the right side, despite ongoing antiepileptic treatment and inconclusive EEG results.
- * The presence of polydactyly in the patient raised the possibility of Pallister Hall syndrome (PHS), though some features were missing; the report emphasizes the relationship between GS and HH, encouraging research on the implications of hypothalam
Analysis of the loss of phosphatase and tensin homolog expression in thyroid tissue for the diagnosis of Cowden syndrome.
Surgery
September 2024
Unidad de Cirugía Endocrina, Cirugía General y del Apartado Digestivo, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain; Digestive, Endocrine and Trasplant Group, Instituto Murciano de Investigación Biosanitaria Pascual Parrilla (IMIB_Pascual Parrilla), Murcia, Spain; General Surgery Department, Universidad de Murcia, Murcia, Spain.
Article Synopsis
- Cowden syndrome is a genetic disorder linked to a specific mutation that leads to aggressive tumors, particularly affecting the thyroid, and early detection methods involving histologic criteria are being explored.
- A study analyzed 535 thyroid specimens for the expression of the phosphatase and tensin homolog, discovering that about 22% of samples showed loss of expression associated with specific histologic features.
- Out of the patients with loss of expression, a significant number presented dermatologic signs of Cowden syndrome, with genetic testing confirming the syndrome in 25% of those cases, suggesting this method could enhance early diagnosis.
Practical considerations for the use of fenfluramine to manage patients with Dravet syndrome or Lennox-Gastaut syndrome in clinical practice.
Epilepsia Open
October 2024
Goethe-University Frankfurt, Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, University Hospital Frankfurt, Frankfurt am Main, Germany.
Article Synopsis
- Fenfluramine is a medicine used to help control seizures in kids and adults with two conditions called Dravet syndrome and Lennox-Gastaut syndrome.
- Doctors have found that it works well for these seizures, especially when other treatments haven't worked.
- This review shares stories of four patients and gives doctors advice on using fenfluramine safely, including possible side effects and how to manage the treatment.