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Saraladevi Manimaran, Ramya Ramanathan, Sundari Subramanian
Cowden syndrome is a rare genetic anomaly mostly attributed to mutations in the Phosphatase and Tensin (PTEN) Homolog gene. This illness manifests with a diverse array of symptoms that impact several physiological systems and an increased susceptibility to various forms of malignancy. The patient typically exhibits mucocutaneous lesions and a heightened vulnerability to the formation of neoplasms, specifically thyroid carcinomas. The inclusion of thyroid disorders, such as Graves' disease, introduces complications to the management procedure, necessitating a complete approach that includes many healthcare practitioners to guarantee optimal care...
April 2024: Curēus
#2
JOURNAL ARTICLE
Ane J Schei-Andersen, Bart van Oirschot, Meggie M C M Drissen, Jolanda Schieving, Janneke H M Schuurs-Hoeijmakers, Janet R Vos, Claire M Barton, Nicoline Hoogerbrugge
AIMS: Patients with PTEN hamartoma tumour syndrome (PHTS) have an increased risk of developing cancer due to a pathogenic germline variant in the PTEN tumour suppressor gene. Early recognition of PHTS facilitates initiation of cancer surveillance which is highly effective in preventing the development of advanced malignancies. PHTS is rare and due to its varied phenotype, even within families, oral abnormalities may be a valuable tool in the identification of these patients at an early stage before cancer development...
May 1, 2024: International Dental Journal
#3
Amro Abdelrahman, Shahd M Abass, Elhassan M Abdalla, Shuhal Elamin, Hany A Zaki, Khalid Y Fadul, Muhammad Abugabala, Mohamed Elgassim
Lhermitte-Duclos disease (LDD) is a rare, slow-growing neoplasm that develops in the brain's posterior fossa. It can appear as a single lesion or as part of Cowden's syndrome. We report the case of a 51-year-old female with a history of diabetes, hypertension, and a previously treated neuroendocrine tumor, who presented to the hospital after experiencing a generalized tonic-clonic seizure. Except for a tongue laceration, the neurological examination was unremarkable. Brain magnetic resonance imaging (MRI) showed a T2 left cerebellar hemisphere pseudomass lesion with iso-hyperintense signals suggestive of Lhermitte-Duclos disease...
July 2024: Radiology Case Reports
#4
Glaucia Suzanna Jong-A-Liem, Talita Helena Martins Sarti, Mariusi Glasenapp Dos Santos, Luciano Marcus Tirotti Giacon, Raphael Wuo-Silva, Alex Machado Baeta, José Maria de Campos Filho, Feres Chaddad-Neto
INTRODUCTION: Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte-Duclos disease (LDD), and various types of associated vascular anomalies...
2024: Frontiers in Neurology
#5
JOURNAL ARTICLE
Qiao Peng, Ning Duan, Xiang Wang, Wen Mei Wang
OBJECTIVE: To provide a comprehensive overview of the current knowledge structure and research hotspots of Cowden syndrome via bibliometrics. METHODS: The articles and reviews related to Cowden syndrome were included from the Web of Science Core Collection (WoSCC) database. VOSviewer, CiteSpace and GraphPad Prism were used to conduct the bibliometric analysis. RESULTS: The number of papers focusing on Cowden syndrome was relatively low initially but increased rapidly from 1997 to 1999, and then maintained small-scale fluctuation...
March 28, 2024: Chinese Journal of Dental Research
#6
JOURNAL ARTICLE
Stephanie Patrick, Deirdre James
SUMMARY: Thyroid cancer is one of the most common manifestations of Cowden syndrome, yet the syndrome is rare. The incidence of Cowden syndrome is 1 in 200,000. The diagnosis can be made clinically when patients present with a combination of symptoms such as mucocutaneous lesions with a strong personal or family history of thyroid, breast, endometrial, and colorectal cancer. A high index of suspicion is required to provide a clinical diagnosis utilizing major and minor criteria. Once a clinical diagnosis is made, genetic testing for a PTEN mutation, a tumor suppressor gene, is recommended...
January 1, 2024: Endocrinology, Diabetes & Metabolism Case Reports
#7
REVIEW
Donatella Gambini, Stefano Ferrero, Gaetano Bulfamante, Luigi Pisani, Massimo Corbo, Elisabetta Kuhn
PTEN hamartoma tumour syndrome (PHTS) comprises different hereditary conditions caused by germline PTEN mutations, predisposing to the development of multiple hamartomas in many body tissues and also increasing the risk of some types of cancer. Cerebellar involvement in PHTS patients has been long known due to the development of a pathognomonic cerebellar hamartoma (known as dysplastic gangliocytoma of the cerebellum or Lhermitte-Duclos disease). Recently, a crucial role of the cerebellum has been highlighted in the pathogenesis of autism spectrum disorders, now recognised as a phenotype expressed in a variable percentage of PHTS children...
April 2024: Neuropathology and Applied Neurobiology
#8
JOURNAL ARTICLE
Anna Gerasimenko, Cyril Mignot, Olivier Naggara, Florence Coulet, Samar Ekram, Solveig Heide, Clarisse Sorato, Maxime Mazowiecki, Laurence Perrin, Chrystelle Colas, Veronica Cusin, Frédéric Caux, Antoine Dardenne, Salima El Chehadeh, Alain Verloes, Hélène Maurey, Alexandra Afenjar, Florence Petit, Stéphane Barete, Odile Boespflug-Tanguy, Emmanuelle Bourrat, Yline Capri, Viorica Ciorna, Wallid Deb, Diane Doummar, Alexandre Perrier, Alexis Guédon, Emmanuel Houdart, Bertrand Isidor, Marie-Line Jacquemont, Camille Buffet, Sandra Mercier, Sandrine Passemard, Audrey Riquet, Lyse Ruaud, Elise Schaefer, Delphine Heron, Annouk Bisdorff, Patrick R Benusiglio
Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN-related hamartoma tumor syndrome (PHTS). However, PHTS-associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34-year-old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21-year-old woman with acute intracranial hypertension due to a torcular DAVF...
February 29, 2024: Clinical Genetics
#9
JOURNAL ARTICLE
Jesús Martín-Valbuena, Nerea Gestoso-Uzal, María Justel-Rodríguez, María Isidoro-García, Elena Marcos-Vadillo, Sandra Milagros Lorenzo-Hernández, M Carla Criado-Muriel, Pablo Prieto-Matos
OBJECTIVE: The aim of this study was to provide a full characterization of a cohort of 11 pediatric patients diagnosed with PTEN hamartoma tumor syndrome (PHTS). PATIENTS AND METHODS: Eleven patients with genetic diagnostic of PHTS were recruited between February 2019 and April 2023. Clinical, imaging, demographic, and genetic data were retrospectively collected from their hospital medical history. RESULTS: Regarding clinical manifestations, macrocephaly was the leading sign, present in all patients...
February 26, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
#10
Wei Yuan, Yanbin Liu, Haibin Sun, Ming Su, Lizheng Qin, Xin Huang
BACKGROUND: Cowden syndrome (CS) is a rare genetic disorder associated with PTEN gene mutations. It is characterized by macrocephaly, specific mucocutaneous features, and a predisposition to benign and malignant tumors. Cases of CS primarily presenting with oral clinical manifestations are relatively uncommon. METHODS/RESULTS: We report the case of a 41-year-old male proband who presented with bilateral commissural and lingual externally projecting symmetric lesions for over two years...
2024: Frontiers in Oncology
#11
JOURNAL ARTICLE
Zsófia Tömböl, Judit Tőke, Géza Tóth, Zsolt Varga, Eszter Balázs, Erika Tóth, Lajos Gergely, Ľudovít Danihel, Márta Medvecz, Katalin Borka, Miklós Tóth
Cowden syndrome (CS) is a rare genetic condition due to the various germline mutations in the phosphatase and tensin homologue on chromosome ten (PTEN) tumour suppressor gene. As a result, CS is characterised by an increased risk of developing various benign and malignant tumours, such as thyroid, breast, endometrial and urogenital neoplasms, as well as gastrointestinal tract tumours. However, the neuroendocrine tumour association with CS is not elucidated yet. We present a case of a 46-year-old male patient diagnosed with testicular seminoma and follicular thyroid cancer in his medical history...
February 14, 2024: Endocrine
#12
Michela Salusti-Simpson, Michael Madrid, Deborah Cook
Storiform collagenoma, also known as sclerotic fibroma, is a relatively rare benign cutaneous tumor consisting of a proliferation of fibroblasts that shows increased production of type I collagen. It may appear as a solitary, sporadic lesion, or, especially when multiple, associated with Cowden syndrome. Giant cell collagenoma has a histopathologic appearance similar to that of storiform collagenoma with the addition of floret-type giant cells. Herein, we report the finding of multiple giant cell collagenomas arising in an individual with Cowden syndrome...
February 9, 2024: Journal of Cutaneous Pathology
#13
JOURNAL ARTICLE
Lulu Yan, Liyun Tian, Yuxin Zhang, Yingwen Liu, Juan Cao, Dongmei Li, Jinghui Zou, Haibo Li
OBJECTIVE: To explore the genetic etiology of a child with Cowden syndrome 1 (CS1). METHODS: A child who had visited the Ningbo Women and Children's Hospital on August 26, 2022 was selected as the study subject. Clinical information of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his family members and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RESULTS: The child, a 13-year-old boy, had manifested with severe mental retardation, hyperactivity, autistic behavior, sparse and prominent teeth, macrocephaly, and skin freckles on the penis...
February 10, 2024: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
#14
JOURNAL ARTICLE
Darren Liu, Lamis Yehia, Andrew Dhawan, Ying Ni, Charis Eng
Individuals with PTEN hamartoma tumor syndrome (PHTS) harbor pathogenic germline PTEN variants that confer a significantly increased lifetime risk of various organ-specific cancers including second primary malignant neoplasms (SMNs). Currently, there are no reliable biomarkers that can predict individual-level cancer risk. Despite the highly promising value of cell-free DNA (cfDNA) as a biomarker for underlying sporadic cancers, the utility of cfDNA in individuals with known cancer-associated germline variants and subclinical cancers remains poorly understood...
January 9, 2024: Cell reports medicine
#15
REVIEW
Naushabah Malik, Banchhita Sahu
OBJECTIVE: To review the literature with reference to counselling and management of women with genetic predisposition to gynaecological cancers. METHODS: Histochemical analysis, ultrasound, blood investigations, genetic testing, screening and risk-reducing surgery (RRS) are important tools for the management of gynaecological cancers and mortality reduction. Counselling can assist in timely management of gynaecological cancers. Systematic reviews, review articles, observational studies and clinical trials on PubMed, published in the English language, were included in this review...
March 2024: European Journal of Obstetrics, Gynecology, and Reproductive Biology
#16
JOURNAL ARTICLE
Emily Hartsough, Mia S DeSimone, Mayra E Lorenzo, Dora Dias-Santagata, Vania Nose, Mai P Hoang
OBJECTIVES: Cowden syndrome (CS) is a multisystem disease with an elevated lifetime risk of internal malignancy. We aim to assess the role of PTEN immunostain as a screening test for CS in a variety of common CS-associated neoplasms, with a particular focus on cutaneous tumors. METHODS: We retrospectively searched for patients meeting criteria for CS and/or demonstrating germline PTEN mutation from 2008 to 2022. We then performed PTEN immunostains on tumors of these patients as well as control cases...
January 11, 2024: American Journal of Clinical Pathology
#17
Marian Caligayahan, Deon Wolpowitz, Candice E Brem
Sclerotic fibroma (SF) is a rare subset of dermal fibromas that occurs sporadically or in association with Cowden syndrome (CS). We report a case of a patient with known CS and a solitary lesion on the scalp. Histologic examination demonstrated a well-circumscribed lesion with sclerotic dermis and a whorled collagen pattern, multinucleated giant cells, and dendritic spindle cells. Nuclear atypia or mitotic figures were not noted. The giant cells were negative for Melan-A, SOX-10, EMA, SOX-10, and factor XIIIa...
December 23, 2023: Journal of Cutaneous Pathology
#18
JOURNAL ARTICLE
R T Rajeswarie, Dattatraya Mallik, Swaroop Gopal
No abstract text is available yet for this article.
December 10, 2023: International Journal of Surgical Pathology
#19
JOURNAL ARTICLE
Ashis Patnaik, Naina Pattnaik, Arunkumar Sekar, Dhirendra Kumar Singh
No abstract text is available yet for this article.
2023: Journal of Neurosciences in Rural Practice
#20
A Di Nora, G Pellino, A Di Mari, F Scarlata, F Greco, P Pavone
In the clinical practice, it is not common for pediatricians to visit children with overgrowth phenotype. When it happens, it is important to focus on the age of manifestations and research the pathogenic causes using appropriate genetic test. Cowden syndrome is one of these rare causes; it is an autosomal dominant genodermatosis characterized by multiple hamartomas of ectodermal, mesodermal, and endodermal origin. It is caused by loss of function mutations in the phosphatase and tensin homolog (PTEN) gene located on chromosome 10q23...
December 2023: Global medical genetics
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