1,884 results match your criteria Cowden Disease Multiple Hamartoma Syndrome


PTEN hamartoma tumour syndrome: What happens when there is no PTEN germline mutation?

Hum Mol Genet 2020 Jun 22. Epub 2020 Jun 22.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, USA.

Hereditary cancer syndromes represent ~10% of all incident cancers. It is important to identify individuals having these disorders because, unlike patients with sporadic cancer, these patients require specialised life-long care, with implications for their families. Importantly, the identification of alterations in cancer-predisposing genes facilitates gene-informed molecular diagnosis, cancer risk assessment and gene-specific clinical management. Read More

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http://dx.doi.org/10.1093/hmg/ddaa127DOI Listing

WWP1 Gain-of-Function Inactivation of PTEN in Cancer Predisposition.

N Engl J Med 2020 05;382(22):2103-2116

From the Cancer Research Institute, Beth Israel Deaconess Cancer Center (Y.-R.L., T.K., J.Z., N.P., J.L., W.W., P.P.P.), and the Departments of Medicine (Y.-R.L., T.K., N.P., P.P.P.) and Pathology (J.Z., J.L., W.W., P.P.P.), Beth Israel Deaconess Medical Center, Harvard Medical School, Boston; the Genomic Medicine Institute (L.Y., Y.N., B.L., C.E.) and the Department of Quantitative Health Sciences (Y.N.), Lerner Research Institute, Cleveland Clinic, the Taussig Cancer Institute (C.E.), the Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine (C.E.), and the Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University (C.E.) - all in Cleveland; the Department of Radiation and Medical Oncology, Zhongnan Hospital of Wuhan University (J.Z.), and the Medical Research Institute, Wuhan University (J.Z.) - both in Wuhan, China; and the Molecular Biotechnology Center, Department of Molecular Biotechnology and Health Sciences, University of Turin, Turin, Italy (P.P.P.).

Background: Patients with hamartoma tumor syndrome (PHTS) have germline mutations in the tumor-suppressor gene encoding phosphatase and tensin homologue (). Such mutations have been associated with a hereditary predisposition to multiple types of cancer, including the Cowden syndrome. However, a majority of patients who have PHTS-related phenotypes have tested negative for mutations. Read More

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http://dx.doi.org/10.1056/NEJMoa1914919DOI Listing

Multi-model functionalization of disease-associated PTEN missense mutations identifies multiple molecular mechanisms underlying protein dysfunction.

Nat Commun 2020 Apr 29;11(1):2073. Epub 2020 Apr 29.

Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, Canada.

Functional variomics provides the foundation for personalized medicine by linking genetic variation to disease expression, outcome and treatment, yet its utility is dependent on appropriate assays to evaluate mutation impact on protein function. To fully assess the effects of 106 missense and nonsense variants of PTEN associated with autism spectrum disorder, somatic cancer and PTEN hamartoma syndrome (PHTS), we take a deep phenotypic profiling approach using 18 assays in 5 model systems spanning diverse cellular environments ranging from molecular function to neuronal morphogenesis and behavior. Variants inducing instability occur across the protein, resulting in partial-to-complete loss-of-function (LoF), which is well correlated across models. Read More

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http://dx.doi.org/10.1038/s41467-020-15943-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7190743PMC
April 2020
10.742 Impact Factor

Middle-Aged Woman With Recent Onset Dizziness.

Ann Emerg Med 2020 05;75(5):e29-e30

Department of Radiology, Wan Fang Hospital, Taipei Medical University, Taipei, Taiwan.

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http://dx.doi.org/10.1016/j.annemergmed.2019.11.014DOI Listing

Successful stereotactic radiotherapy of meningiomas in a patient with Cowden syndrome: a case report.

Chin Clin Oncol 2020 Jun 24;9(2):38. Epub 2020 Apr 24.

Department of Radiation Oncology, Thomas Jefferson University, Philadelphia, PA, USA.

Cowden's Syndrome (CS) is a rare disease with increased risk for several carcinomas. Experimental studies and limited case reports have described the negative effects of radiotherapy. A 35-yearold woman presented with newly diagnosed CS and multiple meningiomas. Read More

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http://dx.doi.org/10.21037/cco.2020.03.04DOI Listing

The Cowden Syndrome.

N Engl J Med 2020 Apr;382(15):e29

Hôpital de Hautepierre, Strasbourg, France

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http://dx.doi.org/10.1056/NEJMicm1910478DOI Listing

Predominant Pathogenic Variants in Pediatric Follicular Thyroid Carcinomas.

Thyroid 2020 May 8. Epub 2020 May 8.

Seoul National University Cancer Research Institute, Seoul Republic of Korea.

Pediatric thyroid cancer has characteristics that are distinct from adulthood thyroid cancer. Due to its very low prevalence, little is known about the genetic characteristics of pediatric follicular thyroid cancer (FTC). We investigated genetic alterations in tumor tissues from 15 patients aged <20 years (median: 14. Read More

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http://dx.doi.org/10.1089/thy.2019.0233DOI Listing

Imaging of Neuronal and Mixed Glioneuronal Tumors.

J Comput Assist Tomogr 2020 May/Jun;44(3):356-369

Department of Radiology. Alexandria Faculty of Medicine, Alexandria, Egypt.

Neuronal and mixed glioneuronal tumors represent a group of neoplasms with varying degrees of neural and glial elements. Their age of presentation varies, but they are most commonly seen in children and young adults. With the exception of anaplastic ganglioglioma and other atypical variants, most lesions are low grade; however, they can have significant morbidity because of seizures, mass effect, or difficult to treat hydrocephalus. Read More

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http://dx.doi.org/10.1097/RCT.0000000000001010DOI Listing
May 2020
1.602 Impact Factor

Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with hamartoma tumor syndrome: A case report.

Mol Clin Oncol 2020 Apr 27;12(4):329-335. Epub 2020 Jan 27.

Department of Genetic Medicine, Takatsuki General Hospital, Takatsuki, Osaka 569-1192, Japan.

A heterozygous loss-of-function mutation of the gene, one of the tumor suppressor genes, causes a wide variety of disorders, ranging from macrocephaly/autism syndrome to hamartoma tumor syndrome, including Cowden disease that causes thyroid and breast cancer mainly in the adolescence and young adult generation. An 8-month-old male infant with simple macrocephaly developed a café-au-lait spot and two subcutaneous tumors at the age of 1 year. One of the tumors developed rapidly was resected at the age of 1 year and 9 months and identified as benign lipoma. Read More

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http://dx.doi.org/10.3892/mco.2020.1988DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7058917PMC

Duplication of the pituitary gland and basilar artery, with multiple midline fusion defects and craniofacial anomalies.

Int J Pediatr Otorhinolaryngol 2020 Apr 21;131:109897. Epub 2020 Jan 21.

Department of Otolaryngology - Head and Neck Surgery, LSU Health Shreveport, Shreveport, LA, USA.

Duplication of the pituitary gland (DPG) is a phenomenon with no clear syndromic association. This case adds to the literature as a DPG-plus syndrome patient with multiple fusion defects of unknown etiology, fetal risk factors of first trimester tobacco usage and intrauterine drug exposure. An 8-month old female presented with noisy breathing, poor feeding, cleft palate, seizures and failure to thrive. Read More

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http://dx.doi.org/10.1016/j.ijporl.2020.109897DOI Listing

A case report of Proteus syndrome (PS).

BMC Med Genet 2020 01 21;21(1):15. Epub 2020 Jan 21.

Department of Endocrinology, ShenZhen Hospital, Southern Medical University, No. 1333, Xinhu Road, Shenzhen, 518100, Guangdong, China.

Background: Proteus syndrome (PS) is an extremely rare disease characterized by excessive chimeric growth of cells, and progressive and irregular asymmetrical hyperplasia.

Case Presentation: Herein, a PS case with atypical clinical features and syndromes was reported, to improve the understanding of the diagnosis and treatment of the disease. The case was a 3-year-and-11-month-old male child. Read More

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http://dx.doi.org/10.1186/s12881-020-0949-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975093PMC
January 2020

Imaging of PTEN-related abnormalities in the central nervous system.

Clin Imaging 2020 Apr 24;60(2):180-185. Epub 2019 Dec 24.

Divison of Neuroradiology, Department of Radiology, Mayo Clinic, 5777 E Mayo Blvd, Phoenix, AZ 85054, USA. Electronic address:

The phosphatase and tensin homolog (PTEN) located at 10q23.31 is a tumor suppressor gene expressed ubiquitously, and loss of function mutations lead to aberrant growth, angiogenesis, and an increased risk for a variety of tumors. PTEN mutations have been associated with multiple abnormalities in the central nervous system, and a number of clinical phenotypes are now attributed to germline PTEN mutations, collectively referred to as PTEN hamartoma tumor syndrome (PHTS). Read More

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http://dx.doi.org/10.1016/j.clinimag.2019.12.006DOI Listing

Hornstein-Knickenberg syndrome vs. Birt-Hogg-Dubé syndrome: a critical review of an unjustified designation.

Authors:
R Happle

J Eur Acad Dermatol Venereol 2020 Apr 9;34(4):885-887. Epub 2020 Feb 9.

Department of Dermatology, Medical Center - University of Freiburg, Freiburg, Germany.

The disorder that is presently called 'Birt-Hogg-Dubé syndrome' was in reality delineated in 1975 by Otto P. Hornstein and Monika Knickenberg from Erlangen (Germany) who emphasized that the occurrence of multiple 'perifollicular fibromas' represented a distinct autosomal dominant trait heralding extracutaneous cancer proneness. By contrast, Arthur R. Read More

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http://dx.doi.org/10.1111/jdv.16190DOI Listing

Mosaic PTEN alteration in the neural crest during embryogenesis results in multiple nervous system hamartomas.

Acta Neuropathol Commun 2019 12 3;7(1):191. Epub 2019 Dec 3.

Department of Genetics, Rouen University Hospital and Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, F76000, Rouen, France.

The contribution of mosaic alterations to tumors of the nervous system and to non-malignant neurological diseases has been unmasked thanks to the development of Next Generation Sequencing (NGS) technologies. We report here the case of a young patient without any remarkable familial medical history who was first referred at 7 years of age, for an autism spectrum disorder (ASD) of Asperger type, not associated with macrocephaly. The patient subsequently presented at 10 years of age with multiple nodular lesions located within the trigeminal, facial and acoustic nerve ganglia and at the L3 level. Read More

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http://dx.doi.org/10.1186/s40478-019-0841-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892231PMC
December 2019

Dysmorphology.

Pediatr Rev 2019 Dec;40(12):609-618

Department of Genetic Medicine.

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http://dx.doi.org/10.1542/pir.2018-0331DOI Listing
December 2019

[What attitude to women at high risk of breast cancer?]

Presse Med 2019 Oct 6;48(10):1092-1100. Epub 2019 Nov 6.

Institut Paoli-Calmettes, oncogénétique clinique, département d'anticipation et de suivi du cancer, 232, boulevard Sainte-Marguerite, 13009 Marseille, France; Aix-Marseille Université, IRD, SESSTIM, Inserm, 13007 Marseille, France.

In France, breast cancer is the most common cancer among women and the leading cause of cancer deaths. Identifying women with a "high" or "very high" breast cancer risk, according the terminology of the Haute Autorité de Santé 2014 guidelines, is essential to offer them special cares in term of screening and prevention. Women genetically predisposed have a very high risk of breast cancer. Read More

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http://dx.doi.org/10.1016/j.lpm.2019.07.014DOI Listing
October 2019

A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.

Am J Med Genet C Semin Med Genet 2019 12 6;181(4):565-570. Epub 2019 Nov 6.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Phenotype-based diagnostic criteria were developed for Proteus syndrome in 1999 and updated in 2006. Subsequently, the causative mosaic gene alteration was discovered, the c.49G>A p. Read More

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http://dx.doi.org/10.1002/ajmg.c.31744DOI Listing
December 2019

Metachronous ovarian endometrioid carcinomas in a patient with a PTEN variant: case report of incidentally detected Cowden syndrome.

BMC Cancer 2019 Oct 29;19(1):1014. Epub 2019 Oct 29.

Research Institution of Shizuoka Cancer Center, Nagaizumi, Suntogun, Shizuoka, 411-8777, Japan.

Background: Somatic PTEN mutation occurs in a proportion of ovarian endometrioid carcinomas. However, these cancers have seldom been reported in diseases associated with germline PTEN variants, such as Cowden syndrome (CS).

Case Presentation: The present case was a 39-year-old woman with a left ovarian carcinoma who demonstrated a germline splice variant of PTEN (c. Read More

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http://dx.doi.org/10.1186/s12885-019-6272-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819610PMC
October 2019
1 Read

Mystery Case: Cowden syndrome presenting with paraneoplastic encephalitis.

Neurology 2019 10;93(18):814-816

From Shanghai Jiao Tong University School of Medicine (M.-s.Y.); and Department of Neurology (S.C., J.L.), Shanghai Ruijin Hospital, Affiliated Hospital of Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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http://dx.doi.org/10.1212/WNL.0000000000008398DOI Listing
October 2019
8.286 Impact Factor

Mesenchymal Hamartoma in Children: A Diagnostic Challenge.

Case Rep Pediatr 2019 16;2019:4132842. Epub 2019 Sep 16.

Division of Pediatric Gastroenterology & Hepatology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota, USA.

Mesenchymal hamartoma is a benign tumor of the liver with a poorly understood pathogenesis. It is uncommon in older children, especially after 2 years of age. The signs and symptoms may be nonspecific; therefore, a high index of suspicion is required for diagnosis and treatment. Read More

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http://dx.doi.org/10.1155/2019/4132842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766091PMC
September 2019
1 Read

Long-term therapy of multiple basal cell carcinomas: Clinicodermoscopic score for monitoring of intermittent vismodegib treatment.

Dermatol Ther 2019 11 17;32(6):e13097. Epub 2019 Oct 17.

Dermatology Unit and Skin Bank, Department of Medical, Surgical and Neuro-Sciences, University of Siena, Siena, Italy.

Vismodegib treatment of multiple basal cell carcinomas (BCCs) is limited by adverse effects and high relapse rates: intermittent regimens are therefore preferred for long-term administration. The objective of this study was to investigate clinical and dermoscopic changes in BCCs during long-term intermittent treatment and to identify those most indicative of tumor persistence/clearing. Clinical and dermoscopic images (n = 380 each) of 38 BCCs were acquired at 10 observation times (t0-t9). Read More

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http://dx.doi.org/10.1111/dth.13097DOI Listing
November 2019
1 Read

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.

Am J Med Genet C Semin Med Genet 2019 12 14;181(4):591-610. Epub 2019 Oct 14.

Wessex Clinical Genetics Service, University Hospitals Southampton NHS Trust, Southampton, United Kingdom.

PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, overgrowth, and tumor predisposition phenotypes, which often overlap. PHTS incorporates a number of historical clinical presentations including Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, and a macrocephaly-autism/developmental delay syndrome. Many reviews in the literature focus on PHTS as an adult hamartoma and malignancy predisposition condition. Read More

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http://dx.doi.org/10.1002/ajmg.c.31743DOI Listing
December 2019
1 Read

Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome.

BMJ Case Rep 2019 Feb 12;12(2). Epub 2019 Feb 12.

The Goldschleger eye institute , Department of Ophthalmology, Sheba Medical Center, Tel Hashomer, Israel.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a congenital disorder characterised by macrocephaly, multiple hamartomas, lipomas, and pigmented macules of the glans penis. Intermediate uveitis is characterised by chronic inflammatory cells aggregates on the pars plana (snowbanks) and within the vitreous cavity (snowballs). We describe what we believe to be the first case of intermediate uveitis associated with BRRS. Read More

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http://dx.doi.org/10.1136/bcr-2017-224079DOI Listing
February 2019
1 Read

Distinct Alterations in Tricarboxylic Acid Cycle Metabolites Associate with Cancer and Autism Phenotypes in Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome.

Am J Hum Genet 2019 10 26;105(4):813-821. Epub 2019 Sep 26.

Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA; Germline High Risk Cancer Focus Group, Case Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:

Germline heterozygous PTEN mutations cause subsets of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS); these subsets are characterized by high risks of breast, thyroid, and other cancers and, in one subset, autism spectrum disorder (ASD). Up to 10% of individuals with PTEN CS, CS-like syndrome, or BRRS have germline SDHx (succinate dehydrogenase, mitochondrial complex II) variants, which modify cancer risk. PTEN contributes to metabolic reprogramming; this is a well-established role in a cancer context. Read More

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http://dx.doi.org/10.1016/j.ajhg.2019.09.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817552PMC
October 2019
4 Reads

Life-Threatening Multilevel Airway Stenosis Due to Myhre Syndrome.

Am J Respir Crit Care Med 2020 03;201(6):731-732

Division of Thoracic Surgery and Interventional Pulmonology, Beth Israel Deaconess Medical Center and.

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http://dx.doi.org/10.1164/rccm.201905-0922IMDOI Listing
March 2020
1 Read

The Role of PTEN in Innate and Adaptive Immunity.

Cold Spring Harb Perspect Med 2019 12 2;9(12). Epub 2019 Dec 2.

Translational Gastroenterology Unit, NIHR Oxford Biomedical Research Centre, Nuffield Department of Experimental Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom.

The lipid and protein phosphatase and tensin homolog (PTEN) controls the differentiation and activation of multiple immune cells. PTEN acts downstream from T- and B-cell receptors, costimulatory molecules, cytokine receptors, integrins, and also growth factor receptors. Loss of PTEN activity in human and mice is associated with cellular and humoral immune dysfunction, lymphoid hyperplasia, and autoimmunity. Read More

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http://dx.doi.org/10.1101/cshperspect.a036996DOI Listing
December 2019
1 Read

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.

Am J Med Genet C Semin Med Genet 2019 12 6;181(4):571-581. Epub 2019 Sep 6.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

Increased risk of thromboembolism has been recognized in individuals with mosaic overgrowth disorders, Proteus syndrome (PS) and PIK3CA-related overgrowth spectrum (PROS), including Klippel-Trenaunay syndrome and CLOVES syndrome. PS and PROS have distinct, yet overlapping clinical findings and are caused by somatic pathogenic variants in the PI3K/AKT gene signaling pathway. PS is caused by a single somatic activating AKT1 c. Read More

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http://dx.doi.org/10.1002/ajmg.c.31735DOI Listing
December 2019
3 Reads

The Lhermitte-Duclos disease: a rare bilateral cerebellar location of a rare pathology.

Pan Afr Med J 2019 14;33:118. Epub 2019 Jun 14.

Department of Neurosurgery-UHC Habib Bourguiba, Sfax, Tunisia.

Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). Read More

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http://dx.doi.org/10.11604/pamj.2019.33.118.16809DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6711701PMC
September 2019
2 Reads

Hypothalamic hamartomas and inner ear diverticula with X-linked stapes gusher syndrome - new associations?

Pediatr Radiol 2020 01 22;50(1):142-145. Epub 2019 Aug 22.

Department of Radiology, University of Minnesota, Minneapolis, MN, USA.

X-linked stapes gusher syndrome is a genetic form of deafness with distinct radiographic features on temporal bone CT. Hypothalamic hamartoma is a congenital glioneuronal anomaly of the hypothalamus. We report a potential association between these two rare anomalies that, to our knowledge, has not been reported. Read More

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http://dx.doi.org/10.1007/s00247-019-04497-zDOI Listing
January 2020
3 Reads

An Update on Inherited Colon Cancer and Gastrointestinal Polyposis.

Klin Onkol 2019 ;32(Supplementum2):97-108

Background: It is estimated that 5-10% of colorectal cancers arise due to a known genetic syndrome. Individuals with these cancer syndromes are also at risk of extracolonic cancers. Polyposis and nonpolyposis hereditary syndromes are generally recognized. Read More

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http://dx.doi.org/10.14735/amko2019S97DOI Listing
January 2020
7 Reads

Enlarging left atrial haemangioma in a patient with Cowden syndrome.

BMJ Case Rep 2019 Jul 27;12(7). Epub 2019 Jul 27.

Department of Thoracic Surgery, Austin Health, Heidelberg, Victoria, Australia.

A 53-year-old female patient known to have Cowden disease ( mutation positive) was found to have a mass at the left atrium on a CT coronary angiography performed as part of a preoperative workup for an unrelated surgery. Further radiological characterisation of the lesion was achieved using MRI and positron emission tomography. Interval growth prompted surgical excision; however, surgery was expedited after the patient presented with haemopericardium and cardiac tamponade. Read More

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http://dx.doi.org/10.1136/bcr-2019-230088DOI Listing
July 2019
3 Reads

Left atrial cavernous haemangioma presenting with cardiac tamponade in a patient with Cowden syndrome.

BMJ Case Rep 2019 Jul 8;12(7). Epub 2019 Jul 8.

Department of Anaesthesia, Austin Health, Heidelberg, Victoria, Australia.

Cowden syndrome (CS) is a rare disorder characterised by multiple non-cancerous, tumour-like growths called hamartomas. The syndrome is associated with the development of cancer of the breast, endometrium, kidneys, skin and rarely the brain. We report a rare case of symptomatic cardiac haemangioma in a patient with CS. Read More

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http://dx.doi.org/10.1136/bcr-2019-229741DOI Listing
July 2019
1 Read

[A clinical study of Proteus syndrome caused by a mosaic somatic mutation in AKT1 gene].

Zhonghua Nei Ke Za Zhi 2019 Jul;58(7):508-513

Metabolic Bone Disease and Genetics Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China.

Proteus syndrome is a rare disease. The aim of the present study was to analyze the clinical characteristics and gene mutations of Proteus syndrome with a case report and relevant literature review. Clinical data of the patient with Proteus syndrome were collected in detail and biochemical measurements and radiological examinations were conducted. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2019.07.005DOI Listing
July 2019
4 Reads

In Reply to the Letter to Editor Regarding "Giant Cerebral Aneurysm in a Patient with Cowden Syndrome Treated with Surgical Clipping".

World Neurosurg 2019 07;127:682

Department of Neurosurgery, University of Occupational and Environmental Health, Kitakyushu, Japan.

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http://dx.doi.org/10.1016/j.wneu.2019.04.196DOI Listing

Letter to the Editor Regarding "Giant Cerebral Aneurysm in a Patient with Cowden Syndrome Treated with Surgical Clipping".

World Neurosurg 2019 07;127:680-681

Department of Internal Medicine, Saint Vincent Hospital, Worcester, Massachusetts, USA.

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http://dx.doi.org/10.1016/j.wneu.2019.04.098DOI Listing

Current Knowledge of Germline Genetic Risk Factors for the Development of Non-Medullary Thyroid Cancer.

Genes (Basel) 2019 06 26;10(7). Epub 2019 Jun 26.

The Faculty of Health Sciences of the Jan Kochanowski University, 25-317 Kielce, Poland.

The thyroid is the most common site of endocrine cancer. One type of thyroid cancer, non-medullary thyroid cancer (NMTC), develops from follicular cells and represents approximately 90% of all thyroid cancers. Approximately 5%-15% of NMTC cases are thought to be of familial origin (FNMTC), which is defined as the occurrence of the disease in three or more first-degree relatives of the patient. Read More

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http://dx.doi.org/10.3390/genes10070482DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678600PMC
June 2019
10 Reads

Oral hamartomatous lesion of Cowden's disease treated with the combination of erbium:YAG laser and topical sirolimus.

Dermatol Ther 2019 09 8;32(5):e13002. Epub 2019 Jul 8.

Faculty of Health Sciences, Department of Dermatology, Gülhane School of Medicine, Gülhane Training and Research Hospital, Ankara, Turkey.

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http://dx.doi.org/10.1111/dth.13002DOI Listing
September 2019
1 Read

Novel PTEN mutation in Cowden syndrome: case report with late diagnosis and non-malignant course.

Dermatol Online J 2019 May 15;25(5). Epub 2019 May 15.

Department of Clinical Analyses, Consorci Hospital General Universitari de Valencia, Valencia.

Cowden syndrome (CS) is an infrequent genodermatosis caused by mutations in the phosphatase and tensin homolog (PTEN) gene in the majority of cases. As such, it belongs to the PTEN hamartoma tumor syndrome spectrum. This disease has a variable clinical expression characterized by the development of multiple hamartomatous tumors in different organs, usually during the second and third decades of life, and a high cumulative risk of several malignancies. Read More

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May 2019
7 Reads

A mouse model of Proteus syndrome.

Hum Mol Genet 2019 09;28(17):2920-2936

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

Proteus syndrome is a mosaic, progressive overgrowth disorder caused by a somatic activating variant c.49G > A p.(E17K) in AKT1. Read More

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http://dx.doi.org/10.1093/hmg/ddz116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736390PMC
September 2019
7 Reads

Skin Biopsy in the Context of Systemic Disease.

Actas Dermosifiliogr 2019 Nov 4;110(9):710-727. Epub 2019 Jun 4.

Servicio de Anatomía Patológica, Hospital El Bierzo, Ponferrada, León, España; Instituto de Investigación Biomédica de A Coruña, Grupo de Investigación CellCOM-SB, A Coruña, España; Servicio de Anatomía Patológica, Hospital de la Reina, Ponferrada, León, España. Electronic address:

The skin is the largest and most exposed organ in the human body and the ideal place to look for signs that aid in the early diagnosis of systemic diseases with cutaneous effects. As the concepts that underpin our understanding of many of these diseases have evolved or expanded in recent years, there have also been changes in the criteria we use for early diagnosis, including our approaches to skin biopsy and dermatopathologic evaluation. This review focuses on some of the systemic processes with skin manifestations for which our basic understanding has changed most in recent decades. Read More

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http://dx.doi.org/10.1016/j.ad.2019.02.012DOI Listing
November 2019
11 Reads

Sclerosing Pneumocytoma of the Lungs Arising in a Child With PTEN Mutation.

Pediatr Dev Pathol 2019 Nov-Dec;22(6):579-583. Epub 2019 Jun 5.

Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada.

We report a rare case of sclerosing pneumocytoma occurring in a child with PTEN mutation. A 13-year-old female presented to the emergency department of an adult hospital following 2 to 3 days of upper respiratory tract infection symptoms. A primary lung lesion was discovered during her initial chest X-ray to rule out pneumonia. Read More

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http://dx.doi.org/10.1177/1093526619851423DOI Listing
April 2020
10 Reads
0.857 Impact Factor

An update on the CNS manifestations of neurofibromatosis type 2.

Acta Neuropathol 2020 Apr 4;139(4):643-665. Epub 2019 Jun 4.

Division of Neuropathology, Department of Pathology, Brigham and Women's Hospital, Hale Building for Transformative Medicine, BTM8002P, 60 Fenwood Road, Boston, MA, 02115, USA.

Neurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system lesions. NF2 results from loss-of-function alterations in the NF2 gene on chromosome 22, with resultant dysfunction of its protein product merlin. NF2 is most commonly associated with the development of bilateral vestibular schwannomas; however, patients also have a predisposition to development of other tumors including meningiomas, ependymomas, and peripheral, spinal, and cranial nerve schwannomas. Read More

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http://dx.doi.org/10.1007/s00401-019-02029-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7038792PMC
April 2020
18 Reads
10.762 Impact Factor

Cowden syndrome: gastrointestinal manifestations of an infrequent polyposis.

Endoscopy 2019 10 16;51(10):E280-E281. Epub 2019 May 16.

Clínica de Gastroenterología, Universidad de la República, Montevideo, Uruguay.

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http://dx.doi.org/10.1055/a-0885-9246DOI Listing
October 2019
1 Read

Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management.

Periodontol 2000 2019 06;80(1):12-27

WHO Collaboration Centre for Epidemiology and Community Dentistry, University of Milan, Milan, Italy.

A large number of disorders may affect the oral cavity, including genetic diseases, infections, cancers, blood diseases, skin diseases, endocrine and metabolic disorders, autoimmune and rheumatologic diseases, local lesions, to name a few. Oral mucosa shows a considerable variation in its normal structure and a wide range of conditions may affect it. Such conditions are often harmless or minor and could be primary or secondary to systemic disease. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/prd.12261
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http://dx.doi.org/10.1111/prd.12261DOI Listing
June 2019
39 Reads

Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene.

BMC Gastroenterol 2019 May 9;19(1):70. Epub 2019 May 9.

Department of Gastroenterology, Airforce Medical Center of PLA, 30 Fucheng Rd., Beijing, 100142, China.

Background: Peutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by gastrointestinal polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication.

Case Presentation: A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Read More

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http://dx.doi.org/10.1186/s12876-019-0987-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507206PMC
May 2019
10 Reads

Familial Intracranial Hypertension in 2 Brothers With Mutation: Expansion of the Phenotypic Spectrum.

J Child Neurol 2019 08 2;34(9):506-510. Epub 2019 May 2.

1 Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.

(Phosphatase and Tensin Homolog on chromosome TEN) encodes a vastly expressed tumor suppressor protein that antagonizes the PI3 K signaling pathway and alters the MTOR pathway. Mutations in have been described in association with a number of syndromes including hamartoma-tumor syndrome, macrocephaly/autism, and juvenile polyposis of infancy. Although there is a wide variability in the clinical and radiologic presentations of -related phenotypes, the most consistent features include macrocephaly and increased tumorigenesis. Read More

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http://dx.doi.org/10.1177/0883073819842970DOI Listing
August 2019
11 Reads

Cowden syndrome caused by a novel mutation: Endoscopy aided diagnosis.

Dig Liver Dis 2019 06 2;51(6):910. Epub 2019 Apr 2.

Department of Gastroenterology and Hepatology, University Hospitals Leuven, Belgium.

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http://dx.doi.org/10.1016/j.dld.2019.03.003DOI Listing
June 2019
3 Reads

Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review.

World Neurosurg 2019 Jul 21;127:319-325. Epub 2019 Mar 21.

Department of Neurological Surgery, Ohio State University Wexner Medical Center, Columbus, Ohio, USA. Electronic address:

Background: Dysplastic gangliocytoma (Lhermitte-Duclos disease [LDD]) typically presents as a PTEN (phosphatase and tensin homolog)-positive, insidious unilateral mass of the cerebellar cortex. Patients can present with symptoms of increased intracranial pressure. Magnetic resonance imaging (MRI) will reveal a characteristic laminar/tigroid appearance. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.03.131DOI Listing
July 2019
18 Reads

Giant Cerebral Aneurysm in a Patient with Cowden Syndrome Treated with Surgical Clipping.

World Neurosurg 2019 Jun 20;126:336-340. Epub 2019 Mar 20.

Department of Neurosurgery, University of Occupational and Environmental Health, Kitakyushu, Japan.

Background: Cowden syndrome is characterized by multiple hamartomas and accompanied by a germline mutation of the phosphatase and tensin homolog gene. Cowden syndrome has been described to be associated with vascular anomalies such as arteriovenous malformation and developmental venous anomalies with high frequency. However, the association of cerebral aneurysms with this syndrome has not been reported yet. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.02.245DOI Listing
June 2019
5 Reads

What's New in Genetic Skin Diseases.

Dermatol Clin 2019 Apr;37(2):229-239

Department of Dermatology, University of Alabama at Birmingham, 1940 Elmer J. Bissell Road, Birmingham, AL 35243, USA. Electronic address:

The discoveries of new genes underlying genetic skin diseases have occurred at a rapid pace, supported by advances in DNA sequencing technologies. These discoveries have translated to an improved understanding of disease mechanisms at a molecular level and identified new therapeutic options based on molecular targets. This article highlights just a few of these recent discoveries for a diverse group of skin diseases, including tuberous sclerosis complex, ichthyoses, overgrowth syndromes, interferonopathies, and basal cell nevus syndrome, and how this has translated into novel targeted therapies and improved patient care. Read More

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http://dx.doi.org/10.1016/j.det.2018.11.004DOI Listing
April 2019
19 Reads