keyword
MENU ▼
Read by QxMD icon Read
search

Cowden Syndrome

keyword
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#1
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27900366/exome-sequencing-reveals-germline-gain-of-function-egfr-mutation-in-an-adult-with-lhermitte-duclos-disease
#2
Samantha Colby, Lamis Yehia, Farshad Niazi, JinLian Chen, Ying Ni, Jessica L Mester, Charis Eng
Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline PTEN mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type for PTEN. Exome sequencing revealed a germline heterozygous EGFR mutation that breaks a disulfide bond in the receptor's extracellular domain, resulting in constitutive activation. Functional studies demonstrate activation of ERK/AKT signaling pathways, mimicking PTEN loss-of-function downstream effects...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27889943/a-clinicopathological-study-of-the-oral-lesions-of-cowden-disease
#3
Mariana Hammerschmidt, Silvia Vanessa Lourenço, Marcello Menta Simonsen Nico
BACKGROUND: Cowden disease is a multisystemic cancer predisposition disorder, inherited in an autosomal dominant pattern. Cutaneous and visceral lesions are either malignant tumours or are believed to represent hamartomatous growths. Mucocutaneous lesions are present on almost 100% of affected individuals. Nonetheless, some authors consider that the mucocutaneous manifestations of Cowden disease are, in reality, viral warts at distinct steps of evolution. There are only a few studies regarding the oral manifestations of Cowden disease...
November 7, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27886412/cowden-syndrome-serendipitous-diagnosis-in-patients-with-significant-breast-disease-case-series-and-literature-review
#4
Roisin M Heaney, Michael Farrell, Maurice Stokes, Tom Gorey, Dylan Murray
Cowden syndrome (CS) is a multi-system disease that carries an increased lifetime risk of developing certain cancers as well as benign neoplasms. The presence of features of CS in the general unaffected population results in difficulties in the recognition and diagnosis of this condition. Early diagnosis is essential to prevent the development of malignant neoplasms, yet despite the introduction of diagnostic criteria and risk calculators, accurate diagnosis remains a challenge. We identified three patients who presented to the symptomatic breast unit of a University Teaching Hospital over a period of 12 weeks who subsequently were diagnosed with CS...
November 25, 2016: Breast Journal
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#5
REVIEW
Samantha Peiling Yang, Joanne Ngeow
Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members...
December 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27703620/multidisciplinary-surgical-management-of-cowden-syndrome-report-of-a-case
#6
Romeo Patini, Edoardo Staderini, Patrizia Gallenzi
Cowden's Syndrome (CS) is a rare congenital autosomal dominant disorder that affects around 1/200000 patients with an incomplete penetrance and variable expressivity, characterized by alterations in a tumor suppressor gene. A 14-year-old Caucasian male patient came to the attention of the authors complaining of palm nodules, gingival bleeding and painful pedunculated lesions on the lips and on the labial side of anterior sextants. After genetic investigation the final diagnosis of a Cowden Syndrome was made...
October 2016: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/27683091/linear-trichilemmomas-on-the-ankle-of-a-28-year-old-female
#7
Jessica L Gonzalez, Natalia Plotnikova, Andrew Seymour, Ciaran M Mannion, Richard Danialan, David Rosmarin
Trichilemmomas are benign cutaneous proliferations derived from the outer root sheath of the hair follicle. They most often occur on the head and neck region and show a female predominance. When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene. Trichilemmomas outside of the head and neck region are rare, and as such, the association with CS is not clear. A 28-year-old healthy female with no significant family history of cancer presented to her dermatologist with multiple erythematous papules on the left anterior ankle, starting at birth...
September 28, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27682856/multiple-clear-cell-acanthomas-and-a-sebaceous-lymphadenoma-presenting-in-a-patient-with-cowden-syndrome-a-case-report
#8
Silvia Potenziani, Danielle Applebaum, Bhuvaneswari Krishnan, Carolina Gutiérrez, A Hafeez Diwan
Cowden Syndrome (CS) is an uncommon autosomal dominant multiorgan/system genodermatosis. It is characterized by the development of multiple hamartomas of endodermal, mesodermal and ectodermal origin, an increased lifetime risk of breast, thyroid, endometrial, and other cancers and an identifiable germline mutation. Mucocutaneous hamartomas are the most common lesions seen and mainly include facial trichilemmomas, oral mucosal papillomas, and benign acral keratoses. Herein, we report a case of a 63-year-old Caucasian male with a long-established diagnosis of CS and history of thyroid cancer, colonic polyps, and innumerable trichilemmomas, seborrheic keratoses, squamous papillomas, and non-melanoma skin cancers excised in the past...
September 28, 2016: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/27661969/gastrointestinal-polyposis-in-cowden-syndrome
#9
Ruthy Shaco-Levy, Kory W Jasperson, Katie Martin, N J Samadder, Randall W Burt, Jian Ying, Mary P Bronner
GOALS: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome. BACKGROUND: The gastrointestinal manifestations of Cowden Syndrome, an important heritable and multiorgan cancer syndrome, are not well defined. Proper diagnosis is essential for effective cancer surveillance and prevention in these patients. STUDY: Cowden patients with gastrointestinal polyps were selected for medical record and pathologic slide review...
September 22, 2016: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/27617518/lhermitte-duclos-disease-in-association-with-cowden-syndrome
#10
Colton Nielson, Toria Fischer, Ryan Fischer, Joseph Donald, Anand Rajpara
Cowden syndrome (CS) is a rare genetic disorder with autosomal dominant inheritance, linked to germline mutations in the PTEN tumor suppressor gene on chromosome 10. Cowden syndrome often co-exists with Lhermitte-Duclos disease (LDD), with LDD included as a major criterion in CD diagnosis. This case involves a woman presenting with many of the classic diagnostic criterions and associations of CD, as well as with several comorbidities and unique objective findings.
2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/27570815/iris-mammillations-in-a-pair-of-twins-with-cowden-syndrome
#11
Lubna Suaiti, Ali Al-Haseni, Hyunjoo Lee, Debjani Sahni
No abstract text is available yet for this article.
July 2016: JAAD Case Reports
https://www.readbyqxmd.com/read/27563534/multiple-meningiomas-in-a-patient-with-cowden-syndrome
#12
Margaret Pain, Armine Darbinyan, Mary Fowkes, Raj Shrivastava
BACKGROUND: Cowden syndrome is a rare, multisystem disease manifesting with increased hamartomas and neoplasms. Though meningioma has been documented in patients with Cowden syndrome, the relationship between these two phenomena is still unclear. CASE DESCRIPTION: We report a case of a 43-year-old female patient with a known PTEN mutation and clinical history of Cowden syndrome. A workup of headache demonstrated two skull base meningiomas. At the time of surgery, several additional tiny meningiomas were detected in the same region...
July 2016: Journal of Neurological Surgery Reports
https://www.readbyqxmd.com/read/27543776/lhermitte-duclos-disease-with-neurofibrillary-tangles-in-heterotopic-cerebral-grey-matter
#13
D Rusiecki, B Lach
Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. The most frequent presenting signs and symptoms are megalocephaly, increased intracranial pressure, nausea, hydrocephalus, ataxia, gait abnormalities, and intermittent headaches, all of which are attributed to the mass effect [6,11,25]...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27540430/cowden-syndrome-detected-by-fdg-pet-ct-in-an-endometrial-cancer-patient
#14
Yun Hee Kang, Hye Kyung Lee, Geon Park
Cowden syndrome (CS) is a rare autosomal dominant disorder characterized by multiple hamartomas in various tissues and cancers (breast, thyroid, and endometrium). We report CS of the esophagus and gastrointestinal tract that was incidentally detected by positron emission tomography/computed tomography (PET/CT) at postoperative surveillance in an endometrial cancer patient. PET/CT showed mildly increased FDG uptake along the entire esophagus and stomach. Upper GI endoscopy and histologic examination revealed glycogenic acanthosis of the esophagus and several hundred gastric polyps...
September 2016: Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/27489861/hidden-association-of-cowden-syndrome-pten-mutation-and-meningioma-frequency
#15
REVIEW
Eduard Yakubov, Ali Ghoochani, Rolf Buslei, Michael Buchfelder, Ilker Y Eyüpoglu, Nicolai Savaskan
Cowden syndrome (CS) is clinically presented by multiple hamartomas, often with mucocutaneous lesions, goiter, breast cancer and gastrointestinal polyps. CS is a genetic disorder of autosomal dominant inheritance and is one distinct syndrome of the phosphatase and tensin homolog on chromosome 10 (PTEN) hamartoma tumor spectrum. Noteworthy, PTEN germline mutations are related to a wide range of brain tumors. We performed a systematic analysis and review of the medical literature for Cowden syndrome and meningioma and additionally present the case of a 29-year- old CS patient diagnosed with multiple meningiomas...
2016: Oncoscience
https://www.readbyqxmd.com/read/27488391/multi-organ-benign-and-malignant-tumors-recognizing-cowden-syndrome-a-case-report-and-review-of-the-literature
#16
Maria Angela Gosein, Dylan Narinesingh, Cemonne Ann-Alicia Celeste Nixon, Sanjeeva Reddy Goli, Paramanand Maharaj, Alexander Sinanan
BACKGROUND: Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this syndrome...
August 4, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/27471403/genetic-basis-of-cowden-syndrome-and-its-implications-for-clinical-practice-and-risk-management
#17
REVIEW
Amanda Gammon, Kory Jasperson, Marjan Champine
Cowden syndrome (CS) is an often difficult to recognize hereditary cancer predisposition syndrome caused by mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN). In addition to conferring increased cancer risks, CS also predisposes individuals to developing hamartomatous growths in many areas of the body. Due to the rarity of CS, estimates vary on the penetrance of certain phenotypic features, such as macrocephaly and skin findings (trichilemmomas, mucocutaneous papules), as well as the conferred lifetime cancer risks...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27294038/bi-pedicle-nipple-sparing-mastectomy-modified-letterman-technique-and-tigr-mesh-assisted-immediate-implant-reconstruction-in-a-patient-with-cowden-syndrome
#18
Josie Todd
Cowden syndrome, a rare genetic disorder estimated to occur in 1 in 200,000 live births and inherited as an autosomal dominant mutation in PTEN gene, is part of the PTEN hamartoma tumor syndrome. These patients are at risk of breast cancer, as well as cancers of the digestive tract, thyroid, uterus and ovaries. Often identified by their dentist due to characteristic papillomatosis in the gingival mucosa, they have an estimated lifetime risk of up to 81% of developing breast cancer. This article describes a relatively uncommon procedure of bi-pedicle nipple-sparing mastectomy, a modified Letterman technique, used in the setting of immediate implant based reconstruction in a patient with Cowden syndrome...
June 2016: Gland Surgery
https://www.readbyqxmd.com/read/27243078/-arteriovenous-fistula-avf-of-the-kidney-in-a-patient-with-cowden-s-syndrome
#19
José David Jiménez Parra, Diego García García, Lorena Torres Varas, Jesús Jiménez Calvo
No abstract text is available yet for this article.
April 2016: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/27241108/gynecologic-manifestations-of-less-commonly-encountered-hereditary-syndromes
#20
REVIEW
Deborah F DeLair, Robert A Soslow
This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseases...
June 2016: Surgical Pathology Clinics
keyword
keyword
14578
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"