2,070 results match your criteria Cowden Disease Multiple Hamartoma Syndrome


[Translated article] Lip Papillomas in Cowden Disease: Carbon Dioxide Laser Vaporization.

Actas Dermosifiliogr 2022 Jun 4;113(6):T640-T641. Epub 2022 May 4.

Servicio de Dermatología, Hospital del Bierzo, Ponferrada, León, Spain.

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Lip Papillomas in Cowden Disease: Carbon Dioxide Laser Vaporization.

Actas Dermosifiliogr 2022 Jun 26;113(6):640-641. Epub 2021 Jul 26.

Servicio de Dermatología, Hospital del Bierzo, Ponferrada, León, España.

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Clinicopathologic features of thyroid nodules with PTEN mutations on preoperative testing.

Endocr Relat Cancer 2022 Jun 1. Epub 2022 Jun 1.

E Morariu, Department of Medicine, University of Pittsburgh, Pittsburgh, United States.

The incidence of cancer in thyroid nodules carrying germline or somatic PTEN mutations is not well defined. This study characterizes clinical and histopathologic features of thyroid nodules with preoperatively detected PTEN mutations and their impact on management. Thyroid nodules with PTEN mutations on molecular testing of fine needle aspirate (FNA) specimens from November 2017 to July 2020 at our institution were included. Read More

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Hypothalamic hamartoma associated with polymicrogyria and periventricular nodular heterotopia in children: report of three cases and discussion of the origin of the seizures.

Childs Nerv Syst 2022 Jun 10. Epub 2022 Jun 10.

Pediatric Neurosurgery Department, Rothschild Foundation Hospital, 29 rue Manin, 75019, Paris, France.

Purpose: Hypothalamic hamartomas (HH) are malformations responsible for drug-resistant epilepsy. HH are usually isolated or part of a genetic syndrome, such as Pallister-Hall. Exceptionally they can be associated with other brain malformations such as polymicrogyria (PMG) and periventricular nodular heterotopia (PNH). Read More

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Catch them if you are aware: PTEN postzygotic mosaicism in clinically suspicious patients with PTEN Hamartoma Tumour Syndrome and literature review.

Eur J Med Genet 2022 Jul 28;65(7):104533. Epub 2022 May 28.

Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands; Radboud university medical center, Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands. Electronic address:

PTEN germline variants cause PTEN Hamartoma Tumour Syndrome (PHTS). Of individuals fulfilling diagnostic criteria, 41-88% test negative for PTEN germline variants, while mosaicism could be an explanation. Here we describe two individuals with PTEN mosaicism. Read More

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Proteus-Like Syndrome: A Rare Phenotype of Phosphatase and Tensin Homolog Hamartoma Tumor Syndrome.

Cureus 2022 Apr 14;14(4):e24135. Epub 2022 Apr 14.

Radiology, University of Toledo Medical Center, Toledo, USA.

The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a collection of diseases stemming from mutations in the PTEN tumor suppressor gene and is characterized by variable expressivity and abnormal overgrowth in multiple body systems. Its clinical manifestations include, but are not limited to, lipomas, limb overgrowth, dermatologic lesions, and malignancy. The infrequency of occurrence and broadness of clinical presentation has made the diagnosis and differentiation of different subtypes of PHTS challenging. Read More

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[A case of Peutz-Jeghers syndrome that developed triple cancers during the course].

Nihon Shokakibyo Gakkai Zasshi 2022 ;119(5):446-451

Department of Gastroenterology and Hepatology, Okayama University Hospital.

At the time of colon polyp follow-up, a 46-year-old Japanese woman with a history of invagination, colon polyps, cervical cancer, and breast cancer was suspected of Peutz-Jeghers syndrome and referred. Multiple polyposes of the jejunum were discovered by capsule endoscopy and double-balloon endoscopy, and the resected specimen was diagnosed with hamartoma. During the follow-up, advanced pancreatic cancer-derived from IPMN developed. Read More

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A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Mar;47(3):384-389

Department of Plastic and Cosmetic Surgery, Xiangya Hospital, Central South University, Changsha 410008.

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Read More

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Paresthesias and Weakness of Lower Limbs as Symptomatic Debut of Lhermitte-Duclos Disease.

Can J Neurol Sci 2022 May 12:1-3. Epub 2022 May 12.

Department of Radiology, Hospital Nuestra Señora del Prado, CTRA. MADRID-EXTREMADURA, KM, 45600 Talavera de la Reina, Toledo, Spain.

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Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Gastroenterology 2022 Jun 26;162(7):2063-2085. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

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Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the U.S. Multi-Society Task Force on Colorectal Cancer.

Gastrointest Endosc 2022 Jun 26;95(6):1025-1047. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont; Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

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Diagnosis and Management of Cancer Risk in the Gastrointestinal Hamartomatous Polyposis Syndromes: Recommendations From the US Multi-Society Task Force on Colorectal Cancer.

Am J Gastroenterol 2022 06 26;117(6):846-864. Epub 2022 Apr 26.

Veterans Affairs Medical Center, White River Junction, Vermont, USA.

The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal tumors. They include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden's syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome. Diagnoses are based on clinical criteria and, in some cases, confirmed by demonstrating the presence of a germline pathogenic variant. Read More

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Development of the Clinical Gestalt Assessment: a visual clinical global impression scale for Proteus syndrome.

Orphanet J Rare Dis 2022 04 23;17(1):173. Epub 2022 Apr 23.

Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive 8D47B, Bethesda, MD, 20892, USA.

Background: Clinical outcome assessments are important tools for measuring the natural history of disease and efficacy of an intervention. The heterogenous phenotype and difficult to quantity features of Proteus syndrome present challenges to measuring clinical outcomes. To address these, we designed a global clinical assessment for Proteus syndrome, a rare mosaic overgrowth disorder. Read More

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Identification and Somatic Characterization of the Germline Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.

Genes (Basel) 2022 04 5;13(4). Epub 2022 Apr 5.

Medical Genetics, National Institute of Gastroenterology "S. de Bellis" Research Hospital, Castellana Grotte, 70013 Bari, Italy.

Genetic variants located in non-coding regions can affect processes that regulate protein expression, functionally contributing to human disease. Germline heterozygous mutations in the non-coding region of the gene have been previously identified in patients with hamartoma tumor syndrome (PHTS) diagnosed with breast, thyroid, and/or endometrial cancer. In this study, we report a promoter variant (rs34149102 A allele) that was identified by direct sequencing in an Italian family with a history of gastroesophageal junction (GEJ) adenocarcinoma and breast cancer. Read More

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Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.

Eur J Med Genet 2022 Jun 18;65(6):104512. Epub 2022 Apr 18.

Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address:

Oral-facial digital (OFD) syndrome is characterized by abnormalities of the face (hypertelorism and low set-ears), oral cavity (multiple frenula, lingual hamartoma, or lobulated tongue) and extremities (postaxial polydactyly). At least 19 genes have been implicated in the development of OFD syndrome. Herein, we report the case a 13-year-old patient with atrioventricular septal defect, moderate intellectual disability, epilepsy, and features of OFD, including multiple oral frenula, and postaxial polydactyly of the hands and feet. Read More

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Identification of Codon 146 Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies.

Int J Mol Sci 2022 Apr 6;23(7). Epub 2022 Apr 6.

Center for Medical Genetics Ghent, Ghent University Hospital, 9000 Ghent, Belgium.

Mosaic RASopathies are a molecularly heterogeneous group of (neuro)cutaneous syndromes with high phenotypical variability. Postzygotic variants in have been described in oculoectodermal syndrome (OES), encephalocraniocutaneous lipomatosis (ECCL) and epidermal nevus syndrome (ENS). This study confirms the continuum of mosaic neurocutaneous RASopathies showing codon 146 variants in an individual with OES and, for the first time, in an individual with (isolated) epidermal nevus. Read More

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Expanding the phenotype of males with OFD1 pathogenic variants-a case report and literature review.

Eur J Med Genet 2022 Jun 6;65(6):104496. Epub 2022 Apr 6.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, CA, 94143-0748, USA.

Pathogenic variants in the OFD1 gene have been classically associated with the Orofaciodigital syndrome type 1 in females, a condition previously considered to be X-linked dominant with male embryonic lethality. However, an increasing number of males with pathogenic OFD1 variants who survived beyond the neonatal period have now been reported in the literature. Although each new report has added to the ever-broadening spectrum of clinical findings seen in males, many questions about genotype-phenotype correlations and disease mechanism remain. Read More

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The PTEN Hamartoma Tumor Syndrome: How Oral Clinicians May Save Lives.

Clin Adv Periodontics 2022 Mar 30. Epub 2022 Mar 30.

Western Norway Familial Cancer Center, Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.

Introduction: Patients with the PTEN hamartoma tumor syndrome (PHTS) have an 81%-90% cumulative lifetime risk of developing cancer. Around 90% of these patients have recognizable oral features. Receiving a diagnosis may save these patients' lives. Read More

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Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.

J Neurodev Disord 2022 03 23;14(1):24. Epub 2022 Mar 23.

Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.

Background: Computational phenotypes are most often combinations of patient billing codes that are highly predictive of disease using electronic health records (EHR). In the case of rare diseases that can only be diagnosed by genetic testing, computational phenotypes identify patient cohorts for genetic testing and possible diagnosis. This article details the validation of a computational phenotype for PTEN hamartoma tumor syndrome (PHTS) against the EHR of patients at three collaborating clinical research centers: Boston Children's Hospital, Children's National Hospital, and the University of Washington. Read More

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Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head Neck Pathol 2022 Mar 21;16(1):143-157. Epub 2022 Mar 21.

MD Anderson Cancer Center, Houston, TX, USA.

The initiative of the 5th edition of the WHO classification of the Head and Neck Tumours establishing a new section dedicated to familial/heritable tumor syndromes with tumors and lesions in the head and neck region was much needed to better understand the tumours, diseases, and associated syndromes, as well as establish recommendations for monitoring and treating these patients. (WHO Classification of Tumours Editorial Board. Head and Neck tumours. Read More

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Small integral membrane protein 10 like 1 downregulation enhances differentiation of adipose progenitor cells.

Biochem Biophys Res Commun 2022 05 4;604:57-62. Epub 2022 Mar 4.

University Hospital for Children & Adolescents, Center for Pediatric Research, Leipzig University, Leipzig, Germany. Electronic address:

Small integral membrane protein 10 like 1 (SMIM10L1) was identified by RNA sequencing as the most significantly downregulated gene in Phosphatase and Tensin Homologue (PTEN) knockdown adipose progenitor cells (APCs). PTEN is a tumor suppressor that antagonizes the growth promoting Phosphoinositide 3-kinase (PI3K)/AKT/mechanistic Target of Rapamycin (mTOR) cascade. Diseases caused by germline pathogenic variants in PTEN are summarized as PTEN Hamartoma Tumor Syndrome (PHTS). Read More

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Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging.

Cureus 2022 Jan 30;14(1):e21735. Epub 2022 Jan 30.

Pediatrics, Columbia University Irving Medical Center, New York, USA.

Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder for which the diagnosis is often overlooked. The objective of this case report is to highlight how clinical features used in conjunction with brain MRI findings can lead to an expeditious diagnosis without the need for invasive measures or genetic test results. We present the case of a three-day-old infant delivered at 34 and 4/7 weeks gestation who presented with mild respiratory distress and bilious emesis in the setting of an uncomplicated gestational course and vaginal delivery with no known teratogen exposure. Read More

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January 2022

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).

Am J Med Genet A 2022 06 2;188(6):1792-1800. Epub 2022 Mar 2.

Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.

Somatic and germline PI3K-AKT-mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, and PTEN hamartoma tumor syndrome. In this study, we describe five patients with PROS. We identified by high-throughput sequencing four different somatic PIK3CA pathogenic variants in five individuals. Read More

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Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome: clinical and genetic study in a series of Spanish patients.

Orphanet J Rare Dis 2022 02 28;17(1):85. Epub 2022 Feb 28.

Familial Cancer Clinical Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.

Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease.

Results: We reviewed the clinical data collected through a specific questionnaire in a series of 145 Spanish patients with a phenotypic features compatible with PHTS and performed molecular characterization through several approaches including next generation sequencing and whole exome sequencing (WES). Read More

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February 2022

Thyroid Follicular Cell-derived Carcinomas in a Background of Multiple Adenomatous Nodules Leading to a Diagnosis of Hamartoma Tumor Syndrome in an Adult Patient With a Novel Mutation.

Anticancer Res 2022 Mar;42(3):1481-1485

Department of Pathology and Laboratory Medicine, Kaiser Permanente Sacramento Medical Center, Sacramento, CA, U.S.A.

Background: Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a complex disorder. Carriers develop hamartomatous tumors, with an increased risk for developing malignant tumors in multiple organs. Surveillance to facilitate the early detection and treatment of malignancies is extremely important. Read More

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Cowden Syndrome.

Radiographics 2022 Mar-Apr;42(2):E44-E45. Epub 2022 Feb 18.

From the Department of Radiology and Imaging Sciences, Emory University School of Medicine, 1365-A Clifton Rd NE, Suite AT-627, Atlanta, GA 30322 (P.B.); Department of Medical Imaging, University Hospital of Heraklion, Heraklion, Crete, Greece (M.E.K.); Northern Arizona University, Flagstaff, Ariz (L.X.X.H.); and Medical Research Institute of New Zealand, Wellington, New Zealand, and Artibiotics, Wellington, New Zealand (C.K.).

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Dysplastic gangliocytoma of the cerebellum in a cat.

Vet Pathol 2022 05 7;59(3):459-462. Epub 2022 Feb 7.

University College Dublin, Dublin, Ireland.

A 2.5-year-old cat presented with progressive ataxia and lethargy. Magnetic resonance imaging (MRI) showed enlargement of the cerebellum and herniation of cerebellar vermis. Read More

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Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.

BMC Med Imaging 2022 02 7;22(1):22. Epub 2022 Feb 7.

Department of Radiology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China.

Background: The diagnosis of patients with Birt-Hogg-Dubé (BHD) syndrome is always delayed (even for more than 10 years). Improving the understanding and diagnosis of this disease is vital for clinicians and radiologists. In this study we presented the chest computed tomography (CT) findings of BHD syndrome and offered suggestions for BHD cases with spontaneous pneumothorax. Read More

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February 2022

Pituitary Carcinoma in a Patient with Cowden Syndrome.

Am J Case Rep 2022 Feb 3;23:e934846. Epub 2022 Feb 3.

Department of Radiology, Sengkang General Hospital, Singapore, Singapore.

BACKGROUND Pituitary carcinomas are rare tumors that are histologically indistinguishable from pituitary adenoma. This report describes an extremely rare case of pituitary carcinoma in a patient with clinically diagnosed Cowden syndrome (CS). CS is a rare multisystemic hereditary disease with increase risks of cancer and benign overgrowth of different types of tissues. Read More

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February 2022

Cancer risk and genotype-phenotype correlation in Japanese patients with Cowden syndrome.

Int J Clin Oncol 2022 Apr 2;27(4):639-647. Epub 2022 Feb 2.

Department of Gastroenterology and Oncology, Tokushima University Graduate School of Biomedical Sciences, 3-18-15, Kuramoto-cho, Tokushima, 770-8503, Japan.

Background: Cowden syndrome (CS) is an autosomal-dominant hereditary disorder caused by a germline PTEN variant and characterized by multiple hamartomas and a high risk of cancers. However, no detailed data on CS in Asian patients nor genotype-phenotype correlation have been reported.

Methods: We performed the first Japanese nationwide questionnaire survey on CS and obtained questionnaire response data on 49 CS patients. Read More

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