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    1652 results match your criteria Cowden Disease Multiple Hamartoma Syndrome

    1 OF 34

    Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature.
    Medicine (Baltimore) 2017 Apr;96(17):e6538
    aDepartment of Pediatric Surgery, The Second Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China bDepartment of Radiology, The First Affiliated Hospital of Shantou University Medical College, Shantou, Guangdong, China.
    Rationale: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz-Jeghers polyps occur most numerously in the small intestine but frequently in the colon and stomach, only a few cases have been reported in the duodenum.

    Patient Concern: A further family history survey discovered 10 out of 14 members of the family (in 4 generations) had mucocutaneous pigmentations, but many of them were living in rural areas where they had no access to specialized medical services, so none were checked with endoscopy for polyps of hamartoma. Read More

    Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.
    Eur J Med Genet 2017 Apr 18. Epub 2017 Apr 18.
    Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit, Aldo Moro University of Bari, Italy.
    Juvenile Polyposis (JP) is a rare hereditary condition characterized by diffuse hamartomatous gastrointestinal polyposis, associated with a significantly increased risk of neoplastic transformation. Most of the cases are caused by SMAD and BMPR1A mutations, while 10q23 microdeletions, encompassing both PTEN and BMPR1A oncogenes, are extremely rare, typically associated with more aggressive JP, and extraintestinal features overlapping with PTEN Hamartoma Tumor Syndrome. We present the first case of a young female with multiple autoimmune disorders (i. Read More

    Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
    Am J Med Genet A 2017 Apr 6. Epub 2017 Apr 6.
    Department of Pediatrics, University of California San Diego and Rady Children's Hospital - San Diego, San Diego, California.
    Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p. Read More

    Lhermitte-Duclos disease associated to Cowden syndrome: de novo diagnosis and management of these extremely rare syndromes in a patient.
    BMJ Case Rep 2017 Jan 30;2017. Epub 2017 Jan 30.
    Ophthalmology Department, University Hospital Santa Maria, North Lisbon Hospital Center, Lisbon, Portugal.
    A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Read More

    Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway.
    Dermatol Clin 2017 Jan;35(1):51-60
    Department of Dermatology, Uniformed Services University of the Health Sciences, 4301 Jones Bridge Road, Bethesda, MD 20814, USA. Electronic address:
    Somatic mutations in genes of the PI3K/PTEN/AKT/TSC/mTORC1 signaling pathway cause segmental overgrowth, hamartomas, and malignant tumors. Mosaicism for activating mutations in AKT1 or PIK3CA cause Proteus syndrome and PIK3CA-Related Overgrowth Spectrum, respectively. Postzygotic mutations in PTEN or TSC1/TSC2 cause mosaic forms of PTEN hamartoma tumor syndrome or tuberous sclerosis complex, respectively. Read More

    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

    Lhermitte-Duclos Disease in association with Cowden Syndrome.
    Dermatol Online J 2016 May 15;22(5). Epub 2016 May 15.
    University of Kansas School of Medicine.
    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. 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

    Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter.
    Folia Neuropathol 2016 ;54(2):190-6
    Boleslaw Lach, MD, PhD, Department of Pathology and Molecular Medicine, McMaster University, 237 Barton St. East, L8L 2X2 Hamilton (Ontario), Canada, e-mail:
    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]. Many cases are associated with a mutation in the phosphatase and tensin homolog or PTEN gene which is also involved in numerous otherwise unrelated central nervous system abnormalities, namely Cowden syndrome [1,6,11], autism spectrum disorder [18], cerebral cortical dysplasia [11,30] and Bannayan-Riley-Ruvalcaba syndrome [30]. 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

    Early Recognition of Proteus Syndrome.
    Pediatr Dermatol 2016 Sep 4;33(5):e306-10. Epub 2016 Jul 4.
    Division of Dermatology, Augusta University, Augusta, Georgia.
    Proteus syndrome is an extremely rare mosaic condition characterized by progressive overgrowth of tissues due to a somatic activating mutation of the AKT1 gene. Distinct cutaneous features, including cerebriform connective tissue nevi, epidermal nevi, vascular malformations, and adipose abnormalities, can alert the dermatologist to the underlying condition before the onset of asymmetric skeletal overgrowth. We present a series of photographs documenting the skin and musculoskeletal changes in a patient with Proteus syndrome over the first 2 years of life to emphasize the key signs that a dermatologist can recognize to facilitate an earlier diagnosis in these patients. 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

    Testing for Hereditary Predisposition in Patients with Gynecologic Cancers, Quo Vadis?
    Surg Pathol Clin 2016 Jun 11;9(2):301-6. Epub 2016 Apr 11.
    Hereditary Cancer Program, Department of Molecular Oncology, BC Cancer Agency, 600 Wet 10th Ave, Vancouver, British Columbia V5Z 4E6, Canada; Department of Medical Genetics, University of British Columbia, 2329 West Mall, Vancouver, British Columbia V6T 1Z4, Canada.
    Genetic testing for a hereditary predisposition to gynecologic cancers has been available clinically since the 1990s. Since then, knowledge of the hereditary contribution to gynecologic cancers has dramatically increased, especially with respect to ovarian cancer. Although knowledge of the number of gynecologic cancer-predisposing genes has increased, the integration of genetic predisposition testing into routine clinical practice has been much slower. Read More

    Gynecologic Manifestations of Less Commonly Encountered Hereditary Syndromes.
    Surg Pathol Clin 2016 Jun 11;9(2):269-87. Epub 2016 Apr 11.
    Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA. Electronic address:
    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. Read More

    Multiple Intracranial Arteriovenous Fistulas in Cowden Syndrome.
    J Stroke Cerebrovasc Dis 2016 Jun 19;25(6):e93-4. Epub 2016 Apr 19.
    Department of Neurology, Hospital Universitari Germans Trias i Pujol, Badalona, Spain.
    Cowden syndrome is a rare autosomal dominant disease. It is characterized by multiple noncancerous tumorlike growths called hamartomas, which typically are found in the skin, oral mucosa, thyroid, breast, and gastrointestinal tract. It carries with it a potential risk of malignant transformation, especially of the breast and thyroid. 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

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