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    1640 results match your criteria Cowden Disease Multiple Hamartoma Syndrome

    1 OF 33

    An unusual case of incomplete Carney triad: an 18-year-old girl suffering from multiple benign tumors.
    J Thorac Dis 2016 Oct;8(10):E1202-E1206
    Department of General Thoracic Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China.
    Carney triad is a rare syndrome that involves gastrointestinal stromal tumor (GIST), pulmonary chondroma and extra-adrenal paraganglioma. Patients presenting GIST and pulmonary chondroma account for 72.7% of all incomplete Carney triad cases. Read More

    Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies.
    Am J Med Genet C Semin Med Genet 2016 Dec 18;172(4):402-421. Epub 2016 Nov 18.
    The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA-Related Overgrowth Spectrum, Proteus syndrome, and brain overgrowth conditions. Clinical findings in these disorders may be isolated or multiple, including sporadic or mosaic overgrowth (adipose, skeletal, muscle, brain, vascular, or lymphatic), and skin abnormalities (including epidermal nevi, hyper-, and hypopigmented lesions), and have the potential risk of tumorigenesis. Read More

    Multidisciplinary surgical management of Cowden syndrome: Report of a case.
    J Clin Exp Dent 2016 Oct 1;8(4):e472-e474. Epub 2016 Oct 1.
    DDS, Department of Surgical sciences for head and neck diseases, School of dentistry, Catholic University of Sacred Heart, Dean: Prof. Massimo Cordaro, Largo A. Gemelli, 1 - 00168 Rome, Italy.
    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. Read More

    Gastrointestinal Polyposis in Cowden Syndrome.
    J Clin Gastroenterol 2016 Sep 22. Epub 2016 Sep 22.
    *Department of Pathology, Soroka Medical Center, Ben-Gurion University of the Negev, Beer Sheva, Israel †Department of Pathology & ARUP Laboratories ∥Department of Internal Medicine ‡Huntsman Cancer Institute §Genetic Counseling ¶Division of Gastroenterology #Division of Epidemiology, University of Utah, Salt Lake City, UT.
    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. Read More

    Overgrowth syndromes with vascular malformations.
    Semin Cutan Med Surg 2016 Sep;35(3):161-9
    Departments of Dermatology and Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.
    This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases. Read More

    Cowden Syndrome Detected by FDG PET/CT in an Endometrial Cancer Patient.
    Nucl Med Mol Imaging 2016 Sep 4;50(3):255-7. Epub 2016 Jun 4.
    Department of Radiology, The Catholic University of Korea, Daejeon Saint Mary's Hospital, 64, Daeheung-ro, Jung-gu, Daejeon, 34943 Republic of Korea.
    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. Read More

    Hidden association of Cowden syndrome, PTEN mutation and meningioma frequency.
    Oncoscience 2016 30;3(5-6):149-55. Epub 2016 Jun 30.
    Translational Neurooncology Laboratory, Department of Neurosurgery, Universitätsklinikum Erlangen, Friedrich-Alexander University (FAU) Erlangen-Nürnberg, Erlangen, Germany; BiMECON Ent., Berlin, Germany.
    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. Read More

    Multi-organ benign and malignant tumors: recognizing Cowden syndrome: a case report and review of the literature.
    BMC Res Notes 2016 Aug 4;9:388. Epub 2016 Aug 4.
    Radiology, University of the West Indies, St. Augustine, Trinidad & Tobago.
    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. Read More

    Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.
    Am J Hum Genet 2016 Aug 21;99(2):423-9. Epub 2016 Jul 21.
    Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:
    Hypothalamic hamartoma (HH) with gelastic epilepsy is a well-recognized drug-resistant epilepsy syndrome of early life.(1) Surgical resection allows limited access to the small deep-seated lesions that cause the disease. Here, we report the results of a search for somatic mutations in paired hamartoma- and leukocyte-derived DNA samples from 38 individuals which we conducted by using whole-exome sequencing (WES), chromosomal microarray (CMA), and targeted resequencing (TRS) of candidate genes. Read More

    Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome.
    BMJ Case Rep 2016 Jun 29;2016. Epub 2016 Jun 29.
    Clinic for Angiology, University Hospital Zurich, Zurich, Switzerland.
    Misdiagnosis of phosphatase and tensin homologue hamartoma syndromes is common. Correct diagnosis has a relevant impact on patients, as the risk of malignancies is high and treatment options are limited. We report the case of a 24-year-old man who presented with symptomatic vascular intramuscular lesions of the left forearm and right calf, macrocephaly, post Hashimoto thyroiditis, a multicystic intracranial paratrigonal lesion, lentiginous hyperpigmented maculae on the foreskin and multiple skin lesions. Read More

    [Rare hereditary syndromes associated with polyposis and the development of malignant tumors].
    Arkh Patol 2016 Mar-Apr;78(2):10-8
    N.N. Blokhin Russian Cancer Research Center, Ministry of Health of Russia, Moscow, Russia.
    Unlabelled: Familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome are genetic diseases characterized by gastrointestinal polyps, extraintestinal manifestations, and autosomal dominant inheritance. The carriers of these diseases from early childhood are at risk for neoplasias at different sites, which are symptomatic at various ages.

    Aim: to study the clinical organ-specific manifestations in patients with FAP and Peutz-Jeghers, genetics update and possibilities of diagnosis, monitoring, and treatment of these diseases. Read More

    Germline PTEN Mutation Analysis for PTEN Hamartoma Tumor Syndrome.
    Methods Mol Biol 2016 ;1388:63-73
    Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Avenue, NE-50, Cleveland, OH, 44195, USA.
    Clinically, deregulation of PTEN function resulting in reduced PTEN expression and/or activity is implicated in human disease. Cowden syndrome (CS) is an autosomal dominant disorder characterized by benign and malignant tumors. CS-related individual features occur commonly in the general population. Read More

    Low-Flow Vascular Malformation Pitfalls: From Clinical Examination to Practical Imaging Evaluation--Part 2, Venous Malformation Mimickers.
    AJR Am J Roentgenol 2016 May 21;206(5):952-62. Epub 2016 Mar 21.
    4 Department of Radiology, Boston Children's Hospital, Boston, MA.
    Objective: The purpose of this article is to review the unusual clinical and radiographic features of venous malformations that can give rise to diagnostic confusion. Entities that can have overlapping clinical and imaging features with venous malformations are also reviewed.

    Conclusion: Venous malformations are congenital endothelial malformations secondary to errors in vascular morphogenesis and are usually diagnosed in the first 2 decades of life. Read More

    Genodermatosis Affecting the Skin and Mucosa of the Head and Neck: Clinicopathologic, Genetic, and Molecular Aspect--PTEN-Hamartoma Tumor Syndrome/Cowden Syndrome.
    Head Neck Pathol 2016 Jun 14;10(2):131-8. Epub 2016 Mar 14.
    Harvard Medical School, Boston, MA, USA.
    PTEN hamartoma tumor syndrome refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Cowden syndrome, the principal PTEN-related disorder is characterized by multiple neoplasms and hamartomas, mucosal papillomatosis, and skin lesions, trichilemmomas. Trichilemmomas and mucocutaneous papillomatous papules are one of the first signs of the disease. Read More

    Hereditary non-BRCA gynecological tumors.
    Minerva Ginecol 2016 Oct 1;68(5):579-86. Epub 2016 Mar 1.
    Department of Surgical and Diagnostic Sciences, Anatomic Pathology, Genoa University, Genoa, Italy -
    Early diagnosis and proper management of gynecologic malignancies represent a challenge in modern oncology. A growing interest has arisen around the gynecological manifestations of hereditary cancer syndromes. In particular, the discovery of the BRCA1 and BRCA2 genes in ovarian cancer and the mismatch repair genes (MMR) in endometrial carcinoma has revolutionized our approach to the diagnosis and screening of women for ovarian and uterine cancers. Read More

    Cutaneous and ocular manifestations of neurocutaneous syndromes.
    Clin Dermatol 2016 Mar-Apr;34(2):183-204. Epub 2015 Nov 22.
    Ronald O. Perelman Department of Dermatology, New York University School of Medicine, New York, NY 10016, USA. Electronic address:
    Neurocutaneous syndromes are a heterogeneous group of congenital and hereditary disorders with manifestations in the skin and the nervous system, usually together with ocular features that represent diagnostic clues and potential sources of morbidity. Dermatologists and ophthalmologists often need to work together in identifying and managing patients with these conditions; herein, we focus on classic and under-recognized neurocutaneous syndromes. We begin with autosomal dominant genodermatoses characterized by hamartomas and tumors in the skin, eyes, and central nervous system: neurofibromatosis type 1, tuberous sclerosis complex, and PTEN hamartoma-tumor syndrome. Read More

    Clinical and molecular features of young-onset colorectal cancer.
    World J Gastroenterol 2016 Feb;22(5):1736-44
    Veroushka Ballester, Shahrooz Rashtak, Lisa Boardman, Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN 55905, United States.
    Colorectal cancer (CRC) is one of the leading causes of cancer related mortality worldwide. Although young-onset CRC raises the possibility of a hereditary component, hereditary CRC syndromes only explain a minority of young-onset CRC cases. There is evidence to suggest that young-onset CRC have a different molecular profile than late-onset CRC. Read More

    Inherited PTEN mutations and the prediction of phenotype.
    Semin Cell Dev Biol 2016 Apr 28;52:30-8. Epub 2016 Jan 28.
    Cancer Genetics Unit & INSERM U916, Bergonie Institute, Bordeaux University, Bordeaux, France.
    PTEN has been heavily studied due to its role as a tumour suppressor and as a core inhibitory component of the phosphoinositide 3-kinase (PI3K) signalling network. It is a broadly expressed phosphatase which displays complexity and diversity in both its functions and regulation and accordingly, in the laboratory numerous classes of functionally distinct mutations have been generated. Inherited loss of function mutations in the PTEN gene were originally identified in sufferers of Cowden disease, but later shown to associate with more diverse human pathologies, mostly relating to cell and tissue overgrowth, leading to the use of the broader term, PTEN Hamartoma Tumour Syndrome. Read More

    Morphologic characterization of hamartomatous gastrointestinal polyps in Cowden syndrome, Peutz-Jeghers syndrome, and juvenile polyposis syndrome.
    Hum Pathol 2016 Mar 31;49:39-48. Epub 2015 Oct 31.
    Department of Pathology & ARUP Laboratories, University of Utah, Salt Lake City, UT 84112; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112.
    The morphologic features of the gastrointestinal polyps in hamartomatous polyposis syndromes are poorly defined. Our aim was to better characterize the gastrointestinal hamartomas in these syndromes. A blinded review was performed regarding many histologic features for every polyp. Read More

    The spectrum of nephrocutaneous diseases and associations: Genetic causes of nephrocutaneous disease.
    J Am Acad Dermatol 2016 Feb;74(2):231-44; quiz 245-6
    Department of Dermatology, Baylor University Medical Center, Dallas, Texas. Electronic address:
    There are a significant number of diseases and treatment considerations of considerable importance relating to the skin and renal systems. This emphasizes the need for dermatologists in practice or in clinical training to be aware of these associations. Part I of this 2-part continuing medical education article reviews the genetic syndromes with both renal and cutaneous involvement that are most important for the dermatologist to be able to identify, manage, and appropriately refer to nephrology colleagues. Read More

    Proteus syndrome: evaluation of the immunological profile.
    Orphanet J Rare Dis 2016 Jan 13;11. Epub 2016 Jan 13.
    Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Piazzale Spedali Civili 1, Brescia, 25123, Italy.
    Proteus syndrome (PS) is an extremely rare and complex disease characterized by malformations and overgrowth of different tissues. Prognosis of affected patients may be complicated by premature death, mostly due to pulmonary embolism and respiratory failure. To date, immunological data in Proteus syndrome are scarse. Read More

    Benign follicular tumors.
    An Bras Dermatol 2015 Nov-Dec;90(6):780-96; quiz 797-8
    Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal.
    Benign follicular tumors comprise a large and heterogeneous group of neoplasms that share a common histogenesis and display morphological features resembling one or several portions of the normal hair follicle, or recapitulate part of its embryological development. Most cases present it as clinically nondescript single lesions and essentially of dermatological relevance. Occasionally, however, these lesions be multiple and represent a cutaneous marker of complex syndromes associated with an increased risk of visceral neoplasms. Read More

    The Epidemiology of Male Breast Cancer.
    Curr Oncol Rep 2016 Jan;18(1)
    Department of Oncology, Mayo Clinic, 200 First St. SW, Rochester, MN, 55905, USA.
    Male breast cancer is a rare disease, accounting for only 1% of breast cancer diagnoses in the USA. The current literature suggests that genetic factors including BRCA2 mutations, family history, age, androgen/estrogen imbalance, and environmental exposures may predispose to male breast cancer. In this manuscript, we will review known and possible risk factors for male breast cancer, as well as describe the clinical patterns of the disease. Read More

    Neuroendocrine Tumor of the Pancreas as a Manifestation of Cowden Syndrome: A Case Report.
    J Clin Endocrinol Metab 2016 Feb 17;101(2):353-8. Epub 2015 Dec 17.
    Endocrine Oncology Branch (V.N., S.M.S., E.K.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892; Molecular Genetics Section (J.Z., K.K., P.M.), Center for Cancer Research, National Institutes of Health, Bethesda, Maryland 20892; and Laboratory of Pathology (M.A.), National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892.
    Context: Germline mutations in the phosphatase and tensin homolog (PTEN) tumor suppressor gene are found in the majority of patients with Cowden syndrome (CS), who have an increased risk of breast, thyroid, and endometrial cancer. According to our current understanding of genetic changes in the PTEN gene and the resultant phenotypic features of CS, pancreatic neuroendocrine tumors (NETs) are not considered part of the clinical spectrum of CS.

    Case Description: We report a unique case of an advanced NET of the pancreas in a patient with CS. Read More

    Multiple Hereditary Infundibulocystic Basal Cell Carcinoma Syndrome Associated With a Germline SUFU Mutation.
    JAMA Dermatol 2016 Mar;152(3):323-7
    Department of Dermatology, University of California, San Francisco.
    Importance: Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is a rare genodermatosis in which numerous indolent, well-differentiated basal cell carcinomas develop primarily on the face and genitals, without other features characteristic of basal cell nevus syndrome. The cause is unknown. The purpose of the study was to identify a genetic basis for the syndrome and a mechanism by which the associated tumors develop. Read More

    Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome.
    Sci Rep 2015 Dec 11;5:17162. Epub 2015 Dec 11.
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
    A somatic activating mutation in AKT1, c.49G>A, pGlu17Lys, that results in elevated AKT signaling in mutation-positive cells, is responsible for the mosaic overgrowth condition, Proteus syndrome. ARQ 092 is an allosteric pan-AKT inhibitor under development for treatment in cancer. Read More

    Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them?
    Childs Nerv Syst 2016 May 9;32(5):865-71. Epub 2015 Dec 9.
    Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
    The clinical presentation and neuroimaging findings of children with pseudotumoral hemicerebellitis (PTHC) and Lhermitte-Duclos disease (LDD) may be very similar. The differentiation between these entities, however, is important because their management and prognosis are different. We report on three children with PTHC. Read More

    Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
    Am J Hum Genet 2015 Dec;97(6):790-800
    Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium; Laboratory for Genetics of Cognition, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium. Electronic address:
    Circumferential skin creases Kunze type (CSC-KT) is a specific congenital entity with an unknown genetic cause. The disease phenotype comprises characteristic circumferential skin creases accompanied by intellectual disability, a cleft palate, short stature, and dysmorphic features. Here, we report that mutations in either MAPRE2 or TUBB underlie the genetic origin of this syndrome. Read More

    Cowden syndrome with Lhermitte- Duclos disease presenting as ataxia.
    Natl Med J India 2015 Mar-Apr;28(2):74-6
    Department of Medicine Government Medical College, Kozhikode, Kerala, India,
    Cowden syndrome or multiple hamartoma syndrome is a rare genodermatosis of autosomal dominant inheritance characterized by multiple hamartomatous lesions of ectodermal, mesodermal and endodermal origin. A 45-year-old man presented to us with a history of dural arteriovenous fistula and intracerebral bleed in the past with gradually progressive difficulty in walking. Magnetic resonance imaging (MRI) of the brain showed a heterogeneous lesion in the cerebellum which was diagnosed as adult Lhermitte-Duclos disease which is considered a component of Cowden syndrome. Read More

    DPG-plus syndrome: new report of a rare entity.
    BMJ Case Rep 2015 Nov 12;2015. Epub 2015 Nov 12.
    Department of Pediatrics, Hospital de São Francisco Xavier, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.
    Pituitary gland duplication is a particularly rare finding. Different theories have been proposed to explain its pathogenesis, however, this phenomenon is not yet totally understood. Recently, duplication of the pituitary gland (DPG)-plus syndrome has been described, associating DPG with other blastogenic defects. Read More

    PTEN hamartoma tumor syndrome.
    Handb Clin Neurol 2015 ;132:129-37
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH, USA. Electronic address:
    PTEN hamartoma tumor syndrome (PHTS) is the molecular diagnostic term describing patients with Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and other clinical presentations with germline mutation of the PTEN tumor suppressor gene. PHTS confers increased risks for specific malignancies, most notably breast, thyroid, renal, and endometrial cancers. Benign tumors are common, affecting a variety of tissues, and can range from subtle skin papules requiring no treatment to devastating vascular anomalies. Read More

    Ewing Sarcoma in a Patient With Cowden Syndrome.
    J Natl Compr Canc Netw 2015 Nov;13(11):1310-4
    From the Department of Orthopaedic Surgery, David Geffen School of Medicine, UCLA, Los Angeles, California; Department of Orthopaedic Surgery, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand; Department of Pathology, UCLA, Los Angeles, California; Department of Pathology, Khon Kaen University, Khon Kaen, Thailand; Sarcoma Oncology Center, Santa Monica, Santa Monica, California; and Department of Medicine, Division of Hematology/Oncology, David Geffen School of Medicine, UCLA, Los Angeles, California.
    A 47-year-old woman, initially diagnosed in 1996 with Cowden syndrome (CS), PTEN-mutant bilateral breast cancer, a thyroid nodule, and uterine fibroids, presented to UCLA in 2013 with Ewing sarcoma of the pelvic bone. Her treatment course included mastectomies, hysterectomy/oophorectomy, and total thyroid resection, and chemotherapy, radiation, and hemipelvectomy for Ewing sarcoma. This case report illustrates the unusual presentation of Ewing sarcoma in a patient with PTEN-mutant CS, the probable underlying molecular pathogenesis, long-term management, and therapeutic considerations. Read More

    [The successful treatment of a patient with Lhermitte--Duclos disease (A case report and literature rewiew)].
    Zh Vopr Neirokhir Im N N Burdenko 2015 ;79(4):78-83
    Burdenko Neurosurgical Institute, Moscow, Russia.
    Introduction: Lhermitte--Duclos disease is a rare autosomal dominant inherited disorder characterized by the loss of the normal cerebellar cortex architecture and hamartoma formation in the cerebellar hemispheres. Most commonly, this disease manifests in the third and fourth decades of life. Approximately 220 cases of Lhermitte--Duclos disease have been reported in medical literature to date. Read More

    Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
    Am J Hum Genet 2015 Nov 29;97(5):661-76. Epub 2015 Oct 29.
    Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH 44195, USA; 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; CASE Comprehensive Cancer Center, Case Western Reserve University, Cleveland, OH 44106, USA. Electronic address:
    Cancer-predisposing genes associated with inherited cancer syndromes help explain mechanisms of sporadic carcinogenesis and often inform normal development. Cowden syndrome (CS) is an autosomal-dominant disorder characterized by high lifetime risks of epithelial cancers, such that ∼50% of affected individuals are wild-type for known cancer-predisposing genes. Using whole-exome and Sanger sequencing of a multi-generation CS family affected by thyroid and other cancers, we identified a pathogenic missense heterozygous SEC23B variant (c. Read More

    Hamartomatous polyposis in tuberous sclerosis complex: Case report and review of the literature.
    Pathol Res Pract 2015 Dec 21;211(12):1025-9. Epub 2015 Sep 21.
    Institute of Pathology, Medical University of Graz, Graz, Austria. Electronic address:
    Tuberous sclerosis complex (TSC) is a genetic disorder with multisystem involvement that is due to autosomal-dominantly inherited or sporadic mutations in TSC1 and TSC2 genes. Involvement of the gastrointestinal tract is rare. We report the case of a 51-year-old woman with diagnosis of TSC established by genetic testing, who presented with colorectal hamartomatous polyposis. Read More

    Dermatofibrosarcoma Protuberans in a Patient With Cowden Syndrome: Revisiting the PTEN and PDGF Pathways.
    Am J Dermatopathol 2016 Apr;38(4):e40-3
    *Department of Dermatology, University of Michigan, Ann Arbor, MI; †Department of Pathology, University of Chicago, Chicago, IL; ‡Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA; and §Department of Pathology, University of Michigan, Ann Arbor, MI.
    PTEN hamartoma tumor syndrome, of which Cowden syndrome (CS) is the most recognized variant, is characterized by multiple benign and malignant tumors of ectodermal, mesodermal, and endodermal origins, secondary to germline mutation in the phosphatase and tensin homolog (PTEN) gene. Dermatofibrosarcoma protuberans (DFSP) is a locally aggressive malignant fibroblastic/myofibroblastic tumor of the skin, characterized by the t(17:22)(q22:q13) translocation resulting in fusion of the COL1A1 and PDGFB genes. An association between CS and DFSP has not been reported in the literature to date. Read More

    Breast Cancer and Non-Hodgkin Lymphoma in a Young Male with Cowden Syndrome.
    Pediatr Blood Cancer 2016 Mar 15;63(3):544-6. Epub 2015 Oct 15.
    Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska.
    Male breast cancer (MBC) is unusual, especially in young adults. Most cases of MBC as a secondary malignancy relate to the previous treatment with ionizing radiation. MBC can be associated with mutations in hereditary cancer predisposition syndrome genes (i. Read More

    Lhermitte-Duclos Disease Treated Surgically in an Elderly Patient: Case Report and Literature Review.
    Turk Neurosurg 2015 ;25(5):783-7
    Eisyokai Yoshida Hospital, Department of Neurosurgery, Kobe, Japan.
    A 75-year-old man with Lhermitte-Duclos Disease (LDD) manifesting as progressive headache is presented. Magnetic resonance imaging demonstrated a right cerebellar mass lesion with the characteristic "tiger-striped appearance". A mild mass effect was evident at the medulla oblongata, accompanied by inferior displacement of the right cerebellar tonsil. Read More

    Cowden syndrome and the associated Lhermitte-Duclos disease--Case presentation.
    Neurol Neurochir Pol 2015 30;49(5):339-43. Epub 2015 Jul 30.
    Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland. Electronic address:
    We report a patient with features of Cowden syndrome (CS). A 35-year old woman has been suffering from headache, vertigo and mild imbalance since 2 years. Examination showed subtle mucocutaneous lesions: papillomatous papules on the gingival mucosa, a few verrucous acral skin lesions and macrocephaly. Read More

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