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    1232 results match your criteria Carney Syndrome

    1 OF 25

    The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.
    Lab Invest 2018 Jan 16. Epub 2018 Jan 16.
    Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
    The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate. Read More

    A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.
    J Endocrinol Invest 2018 Jan 9. Epub 2018 Jan 9.
    Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
    Background: Carney complex (CNC) is an extremely rare, multiple endocrine neoplasia syndrome that occurs in an autosomal dominant manner. Mutations in PRKAR1A have been reported to be a common genetic cause of CNC.

    Methods: In this study, we reported a Chinese pedigree of CNC that manifests mainly as spotty skin pigmentation and primary pigmented nodular adrenocortical disease. Read More

    Gastric gastrointestinal stromal tumor with osseous differentiation and stromal calcification: A case report and review of literature.
    SAGE Open Med Case Rep 2017 21;5:2050313X17746310. Epub 2017 Dec 21.
    Anatomic pathology department, King Faisal Specialist Hospital & Research Centre, Jeddah, Saudi Arabia.
    Gastrointestinal stromal tumors are the most common primary mesenchymal tumors of the gastrointestinal tract accounting for 0.1%-3.0% of all gastrointestinal malignancies. Read More

    Corticotropinoma as a Component of Carney Complex.
    J Endocr Soc 2017 Jul 30;1(7):918-925. Epub 2017 May 30.
    Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892.
    Known germline gene abnormalities cause one-fifth of the pituitary adenomas in children and adolescents, but, in contrast with other pituitary tumor types, the genetic causes of corticotropinomas are largely unknown. In this study, we report a case of Cushing disease (CD) due to a loss-of-function mutation in PRKAR1A, providing evidence for association of this gene with a corticotropinoma. A 15-year-old male presenting with hypercortisolemia was diagnosed with CD. Read More

    Harvey Cushing Treated the First Known Patient With Carney Complex.
    J Endocr Soc 2017 Oct 28;1(10):1312-1321. Epub 2017 Sep 28.
    Section of Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892.
    Context: Carney complex (CNC) is a syndrome characterized by hyperplasia of endocrine organs and may present with clinical features of Cushing syndrome and acromegaly due to functional adrenal and pituitary gland tumors. CNC has been linked to mutations in the regulatory subunit of protein kinase A type I-alpha (PRKAR1A) gene.

    Design: Tissue samples were taken from the hypothalamus or thalamus or tumors of patients with pituitary adenomas seen and operated on by neurosurgeon Harvey Cushing between 1913 and 1932. Read More

    Recurrent somatic mutations of PRKAR1A in isolated cardiac myxoma.
    Oncotarget 2017 Nov 19;8(61):103968-103974. Epub 2017 Oct 19.
    Scientific Research Center for Translational Medicine, Department of Biotechnology, Dalian Institute of Chemical Physics, Chinese Academy of Sciences, Dalian, China.
    Background: Cardiac myxomas are benign tumors that commonly arise within the left atria. Familial cardiac myxomas are a part of Carney Complex (CNC), an autosomal dominant multiple neoplasia syndrome caused by germline mutations in PRKAR1A. Seven percent of cardiac myxomas are associated with CNC. Read More

    Hereditary and familial thyroid tumours.
    Histopathology 2018 Jan;72(1):70-81
    Massachusetts General Hospital, Boston, MA, USA.
    The worldwide incidence of thyroid malignancies has been increasing rapidly. Sensitive imaging modalities and early detection of thyroid lesions have made thyroid cancers the most rapidly increasing cancers in the USA in 2017 (SEER Cancer Facts, 2017). Clinical awareness of potential risk factors, such as inherited thyroid cancers, has allowed earlier recognition of more vulnerable population clusters. Read More

    Succinate dehydrogenase (SDH)-deficient neoplasia.
    Histopathology 2018 Jan;72(1):106-116
    Department of Anatomical Pathology, Royal North Shore Hospital, St Leonards, NSW, Australia.
    The succinate dehydrogenase (SDH) complex is a key respiratory enzyme composed of four subunits: SDHA, SDHB, SDHC and SDHD. Remarkably, immunohistochemistry for SDHB becomes negative whenever there is bi-alleic inactivation of any component of SDH, which is very rare in the absence of syndromic disease. Therefore, loss of SDHB immunohistochemistry serves as a marker of syndromic disease, usually germline mutation of one of the SDH subunits. Read More

    Carney Complex: Eleven Open Heart Operations in a Single Family.
    Korean J Thorac Cardiovasc Surg 2017 Dec 5;50(6):471-473. Epub 2017 Dec 5.
    Department of Thoracic and Cardiovascular Surgery, Chungnam National University School of Medicine.
    Herein, we report on a family with Carney complex. Four members of the family underwent a total of 11 open heart operations as well as 9 other operations to treat extrathoracic masses. All the family members met at least 2 major clinical criteria and 1 supplemental criterion. Read More

    Genetics of tumors of the adrenal cortex.
    Endocr Relat Cancer 2017 Dec 12. Epub 2017 Dec 12.
    J Bertherat, Endocrinology, Institut Cochin, Paris, France
    This review describes the molecular alterations observed in the various types of tumors of the adrenal cortex, excluding Conn adenomas, especially the alterations identified by genomic approaches these last five years. Two main forms of bilateral adrenocortical tumors can be distinguished according to size and aspect of the nodules: primary pigmented nodular adrenal disease (PPNAD) which can be sporadic or part of Carney complex, and primary bilateral macro nodular adrenal hyperplasia (PBMAH). The bilateral nature of tumors suggests the existence of an underlying genetic predisposition. Read More

    Fibrolamellar Carcinoma in the Carney Complex: PRKAR1A Loss Instead of the Classic DNAJB1-PRKACA Fusion.
    Hepatology 2017 Dec 9. Epub 2017 Dec 9.
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States of America.
    Fibrolamellar carcinomas are characterized by activation of protein kinase A, a kinase composed of catalytic and regulatory subunits. PRKACA encodes a catalytic subunit of protein kinase A and almost all fibrolamellar carcinomas have a heterozygous 400kb deletion that leads to the fusion of DNAJB1 and PRKACA. The resulting DNAJB1-PRKACA fusion transcript is believed to activate protein kinase A by dysregulation of the catalytic portion of the protein. Read More

    Primary cardiac tumors associated with genetic syndromes: a comprehensive review.
    Pediatr Radiol 2017 Dec 6. Epub 2017 Dec 6.
    Division of Cardiothoracic Radiology, Department of Radiology, University of Michigan Health System, University Hospital Floor B1 Reception C, 1500 E. Medical Center Drive SPC 5030, Ann Arbor, MI, 48109, USA.
    Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management. Read More

    Cyclic AMP-dependent protein kinase catalytic subunit A (PRKACA): the expected, the unexpected, and what might be next.
    J Pathol 2017 Dec 4. Epub 2017 Dec 4.
    Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH and Section on Endocrinology and Genetics (SEGEN), NICHD, NIH, Bethesda, USA.
    Protein kinase A (PKA) or cyclic-AMP (cAMP)-dependent kinase was among the first serine-threonine kinases to be molecularly and functionally characterized. For years, it was investigated as the enzyme that mediates cAMP functions in almost all cell systems and organisms studied to date. Despite PKA's critical role in signaling and the long history of investigations of cAMP in oncogenesis (dating back to the 1970s), it was not until relatively recently that PKA defects were found to be directly involved in tumor predisposition. Read More

    Carney complex review: Genetic features.
    Endocrinol Diabetes Nutr 2018 Jan 20;65(1):52-59. Epub 2017 Nov 20.
    Sección de Endocrinología, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina.
    Carney complex is a multiple neoplasia syndrome having endocrine and non-endocrine manifestations. Diagnostic criteria include myxoma, lentigines, and primary pigmented nodular adrenocortical disease, amongst other signs/symptoms. In most cases it is an autosomal dominant disease, and diagnosis therefore requires study and follow-up of the family members. Read More

    Failure to Thrive in the Context of Carney Complex.
    Horm Res Paediatr 2017 Nov 21. Epub 2017 Nov 21.
    Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
    Background/aims: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT).

    Methods: A retrospective case series of pediatric patients with CNC presenting with FTT. Read More

    Cyto-Histo Correlation of a Very Rare Tumor: Superficial Angiomyxoma.
    J Cytol 2017 Oct-Dec;34(4):230-232
    Department of Pathology, Maulana Azad Medical College and Associated Hospitals, New Delhi, India.
    Superficial angiomyxoma (SA) is one of the superficially located myxoid soft tissue tumor. Because of the rarity of this tumor, there is paucity of fine needle aspiration cytology (FNAC) findings. Here, we present a case of SA in a 14-year-old girl who presented with a left leg swelling. Read More

    Melanotic Schwannomas Are Rarely Seen Pigmented Tumors with Unpredictable Prognosis and Challenging Diagnosis.
    Case Rep Pathol 2017 3;2017:1807879. Epub 2017 Oct 3.
    Tepecik Education and Research Hospital, Izmir, Turkey.
    Melanotic Schwannoma (MS) is rarely seen and potentially malignant neoplasm that is categorized as a variant of Schwannoma. MS most frequently involves intracranial structures followed by posterior nerve roots in the spinal canal. Approximately 50% of the cases with MS have psammomatous calcifications and this type of MS is related to Carney complex with autosomal dominant inheritance. Read More

    Intracranial melanotic schwannomas: a rare variant with unusual adherent features.
    J Neurooncol 2018 Jan 2;136(2):299-306. Epub 2017 Nov 2.
    Department of Neurological Surgery, Mayo Clinic, 4500 San Pablo Rd S, Jacksonville, FL, 32224, USA.
    Intracranial melanotic schwannomas (IMSch) are extremely rare nerve sheath tumors with features of Schwann cells that produce melanin. After a thorough review of the available literature since 1967, we report not only the 20th case of IMSch but a comprehensive modern-era analysis of radiographic and histological key-points to be considered when diagnosing and treating patients with this rare known entity. This is the case of a 43 years-old woman who presented with severe headaches 9 years ago (2008). Read More

    Efficacy of dexamethasone suppression test during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome.
    Endocrine 2018 Jan 1;59(1):183-190. Epub 2017 Nov 1.
    Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Key Laboratory of Endocrinology of National Health and Family Planning Commission, Beijing, China.
    Objective: To evaluate the cut-off value of the ratio of 24 h urinary free cortisol (24 h UFC) levels post-dexamethasone to prior-dexamethasone in dexamethasone suppression test (DST) during the diagnosis of primary pigmented nodular adrenocortical disease in Chinese adrenocorticotropic hormone-independent Cushing syndrome.

    Design: Retrospective study.

    Participants: The patients diagnosed with primary pigmented nodular adrenocortical disease (PPNAD, n = 25), bilateral macronodular adrenal hyperplasia (BMAH, n = 27), and adrenocortical adenoma (ADA, n = 84) were admitted to the Peking Union Medical College Hospital from 2001 to 2016. Read More

    Formant-frequency discrimination of synthesized vowels in budgerigars (Melopsittacus undulatus) and humans.
    J Acoust Soc Am 2017 Oct;142(4):2073
    Department of Biomedical Engineering, University of Rochester, Rochester, New York 14642, USA.
    Vowels are complex sounds with four to five spectral peaks known as formants. The frequencies of the two lowest formants, F1and F2, are sufficient for vowel discrimination. Behavioral studies show that many birds and mammals can discriminate vowels. Read More

    68Ga-DOTA-TATE PET/CT for Molecular Imaging of Somatostatin Receptor Expression in Extra-adrenal Paraganglioma in a Case of Complete Carney Triad.
    Clin Nucl Med 2017 Dec;42(12):e527-e528
    From the Departments of *Nuclear Medicine, and †Diagnostic and Interventional Radiology, Hannover Medical School, Hannover, Germany.
    Carney triad is a very rare syndrome characterized by the synchronous or metachronous occurrence of gastrointestinal stromal tumors, pulmonary chondroma, and extra-adrenal paraganglioma. We present the case of a 36-year-old woman with complete Carney triad who underwent a Ga-DOTA-TATE PET/CT scan for restaging of metastasizing extra-adrenal paraganglioma and for evaluation of targeted radionuclide therapy potential. On the Ga-DOTA-TATE PET scan, increased tracer accumulation was observed in paraganglioma metastases. Read More

    Synthesis and Crystal Structures of Volatile Neptunium(IV) β-Diketonates.
    Inorg Chem 2017 Nov;56(21):13553-13561
    Global Security & International Safeguards, Idaho National Laboratory , Idaho Falls, Idaho 83401, United States.
    Production of certified reference materials in support of domestic nuclear forensics programs require volatile precursors for introduction into electromagnetic isotopic separation instruments. β-Diketone chelates of tetravalent actinides are known for their high volatility, but previously developed synthetic approaches require starting material (NpCl4) that is prohibitively difficult and hazardous to prepare. An alternative strategy was developed here that uses controlled potential electrolysis to reduce neptunium to the tetravalent state in submolar concentrations of hydrochloric acid. Read More

    Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature.
    Endokrynol Pol 2017 12;68(6):697-707. Epub 2017 Oct 12.
    Department of Endocrinology, Medical University of Lublin, Poland.
    Background The majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients' age at the moment of recognition. Read More

    Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
    J Clin Endocrinol Metab 2017 Nov;102(11):3924-3927
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London EC1M 6BQ, United Kingdom.
    Context: Carney complex (CNC) is a rare multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumors and a variety of pigmented skin lesions. CNC can be inherited as an autosomal dominant trait, but in about one-third of patients, the disease is caused by de novo mutation in the PRKAR1A gene localized on chromosome 17q22-24. Most of the mutations include single base substitutions and small deletions/insertions not exceeding 15 base pairs. Read More

    [Carney triad].
    Rozhl Chir 2017 ;96(6):267-272
    Carney triad is a synchronous or metachronous association of gastric gastrointestinal stromal tumors (GIST), pulmonary chondroma and extra-adrenal paraganglioma. The majority of patients have only one or two components of the triad, all three tumors being found in only about 2% of the patients at the time of the first diagnosis. The most common combination is gastric and pulmonary tumors. Read More

    Dielectric Sphere Clusters as a Model to Understand Infrared Spectroscopic Imaging Data Recorded from Complex Samples.
    Anal Chem 2017 Oct 27;89(20):10813-10818. Epub 2017 Sep 27.
    Beckman Institute for Advanced Science and Technology, University of Illinois at Urbana-Champaign , Urbana, Illinois 61801, United States.
    Understanding the infrared (IR) spectral response of materials as a function of their morphology is not only of fundamental importance but also of contemporary practical need in the analysis of biological and synthetic materials. While significant work has recently been reported in understanding the spectra of particles with well-defined geometries, we report here on samples that consist of collections of particles. First, we theoretically model the importance of multiple scattering effects and computationally predict the impact of local particles' environment on the recorded IR spectra. Read More

    A Novel PRKAR1A Mutation Identified in a Patient with Isolated Primary Pigmented Nodular Adrenocortical Disease.
    Case Rep Oncol 2017 May-Aug;10(2):769-776. Epub 2017 Aug 16.
    Department of Medicine, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
    Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of Cushing syndrome, especially the isolated form without Carney complex, associated with germline mutations in PRKAR1A, the protein kinase A regulatory subunit type 1 alpha gene. We report a 31-year-old female who presented with secondary amenorrhea, cushingoid appearance, and hypertension without Carney complex. Biochemical laboratory examinations confirmed the ACTH-independent adrenal Cushing syndrome with negative Liddle test. Read More

    Unusual presentations of Carney Complex in patient with a novel PRKAR1A mutation.
    Neuro Endocrinol Lett 2017 Aug;38(4):248-254
    Hacettepe University, Faculty of Medicine, Department of Endocrinology and Metabolism, Ankara, Turkey.
    Carney Complex (CNC) is a multiple neoplasia syndrome characterized by skin tumors and pigmented lesions, myxomas, and various endocrine tumors. The aim of this case report was to describe a case of CNC with a novel PRKAR1A mutation. A man aged 46 years with a medical history of surgery for cardiac myxomas at the age of 39 was admitted to our hospital because of four newly-developed heart masses. Read More

    Growth hormone-producing pituitary adenomas in childhood and young adulthood: clinical features and outcomes.
    Pituitary 2018 Feb;21(1):1-9
    Department of Hypothalamic and Pituitary Surgery, Toranomon Hospital, 2-2-2 Toranomon, Minato-ku, Tokyo, 105-8470, Japan.
    Purpose: Growth hormone (GH)-producing pituitary adenomas (PAs) in childhood or young adulthood are rare, and the details surrounding these tumors remain enigmatic. We present the clinical, pathological and genetic features of this disease.

    Methods: We identified 25 patients aged 20 years or younger with GH-producing PAs who underwent surgery between 2003 and 2016 at Toranomon Hospital in Tokyo. Read More

    Pigmented Epithelioid Melanocytoma (PEM)/Animal Type Melanoma (ATM): Quest for an Origin. Report of One Unusual Case Indicating Follicular Origin and Another Arising in an Intradermal Nevus.
    Int J Mol Sci 2017 Aug 15;18(8). Epub 2017 Aug 15.
    Departments of Dermatology and Pathology, University of Alabama at Birmingham, Birmingham, AL 35201, USA.
    Pigmented epithelioid melanocytoma (PEM) is a tumor encompassing epithelioid blue nevus of Carney complex (EBN of CNC) and was previously termed animal-type melanoma. Histologically PEMs are heavily pigmented spindled and epithelioid dermal melanocytic tumors with infiltrative borders, however, their origin remains unclear. Stem cells for the epidermis and hair follicle are located in the bulge area of the hair follicle with the potential to differentiate into multiple lineages. Read More

    Genomic Analysis of Pigmented Epithelioid Melanocytomas Reveals Recurrent Alterations in PRKAR1A, and PRKCA Genes.
    Am J Surg Pathol 2017 Oct;41(10):1333-1346
    Departments of *Pathology §Dermatopathology ∥Dermatology †Clinical Cancer Genomics Laboratory ‡Helen Diller Cancer Center, University of California, San Francisco, CA ¶Department of Pathology, Lahey Clinic, Burlington, MA.
    Pigmented epithelioid melanocytoma (PEM) is a rare cutaneous melanocytic tumor first described as epithelioid blue nevus in patients with the Carney Complex (CC). PEM was among the first established examples of an intermediate class of melanocytic tumors, including atypical Spitz tumors, with frequent metastasis to lymph nodes but only rare extranodal spread. Sporadic and CC-associated PEM are essentially histologically indistinguishable. Read More

    Succinate dehydrogenase (SDH) deficiency, Carney triad and the epigenome.
    Mol Cell Endocrinol 2017 Jul 21. Epub 2017 Jul 21.
    Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, USA.
    In this report, we review the relationship between succinate dehydrogenase (SDH) deficiency and the epigenome, especially with regards to two clinical conditions. Carney triad (CT) is a very rare disease with synchronous or metachronous occurrence of at least three different tumor entities; gastric gastrointestinal stromal tumor (GIST), paraganglioma (PGL), and pulmonary chondroma. This condition affects mostly females and it is never inherited. Read More

    Organ-sparing surgery for large cell calcifying Sertoli cell tumour in a patient with Carney complex.
    BMJ Case Rep 2017 Jul 14;2017. Epub 2017 Jul 14.
    Serviço de Urologia e Transplantação Renal, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
    Carney complex is a rare genetic disease characterised by a complex of myxomas, spotty pigmentation and endocrine overactivity. At diagnosis, about one-third of male patients presents with testicular tumours, namely large cell calcifying Sertoli cell tumours, which are often multicentric and/or bilateral and have a low malignant potential. Although radical orchiectomy is the gold standard for the treatment of testicular neoplasms, a conservative approach with partial orchiectomy or tumourectomy may be the best treatment option for these patients, allowing the preservation of endocrine function, fertility and body image. Read More

    Hydroconductive and silver-impregnated foam dressings: a comparison.
    J Wound Care 2017 07;26(Sup7):S15-S22
    Firefighters' Burn and Surgical Research Laboratory, MedStar Health Research Institute, Washington, DC, US.
    Objective: As the number of commercially available wound dressings is increasing rapidly, it is important for clinicians to understand the strengths and limitations of each and to recognise relationships between wound type and dressing properties to obtain optimal healing results. Our aim is to test the antimicrobial activity of two dressings.

    Method: A hydroconductive (HC) dressing and a silver-impregnated foam (SIF) dressing were compared for their potential to reduce the levels meticillin-resistant Staphylococcus aureus (MRSA). Read More

    Management of Infected Mesh After Abdominal Hernia Repair: Systematic Review and Single-Institution Experience.
    Ann Plast Surg 2018 Feb;80(2):145-153
    Background: Mesh infection after abdominal hernia repair is a devastating complication that affects general and plastic surgeons alike. The purpose of this study was 3-fold: (1) to determine current evidence for treatment of infected abdominal wall mesh via systematic review of literature, (2) to analyze our single-institution experience with treatment of infected mesh patients, and (3) to establish a framework for how to approach this complex clinical problem.

    Methods: Literature search was performed using the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines, followed by single-institution retrospective analysis of infected mesh patients. Read More

    Next generation immunohistochemistry: Emerging substitutes to genetic testing?
    Semin Diagn Pathol 2017 Jun 27. Epub 2017 Jun 27.
    Department of Pathology, Brigham and Women's Hospital & Harvard Medical School, 75 Francis Street, Boston, MA 02115, USA.
    The identification of at-risk kindreds facilitates screening and risk reduction strategies for patients with hereditary cancer predisposition syndromes. Recently, immunohistochemistry (IHC) has emerged as a cost-effective strategy for detecting or inferring the presence of mutations in both tumors and the germline of patients presenting with tumors associated with hereditary cancer predisposition syndromes. In this review we discuss the use of novel IHC markers, including PRKAR1A, β-catenin, SDHB, fumarate hydratase and 2SC, HRASQ61R, BAP1, parafibromin and glucagon, which have either established applications or show promise for surgical pathologists to complement morphological or clinical suspicion of hereditary cancer predisposition syndromes. Read More

    Long-read genome sequencing identifies causal structural variation in a Mendelian disease.
    Genet Med 2018 Jan 22;20(1):159-163. Epub 2017 Jun 22.
    Stanford Medicine Clinical Genomics Service, Stanford Health Care, Stanford, California, USA.
    PurposeCurrent clinical genomics assays primarily utilize short-read sequencing (SRS), but SRS has limited ability to evaluate repetitive regions and structural variants. Long-read sequencing (LRS) has complementary strengths, and we aimed to determine whether LRS could offer a means to identify overlooked genetic variation in patients undiagnosed by SRS.MethodsWe performed low-coverage genome LRS to identify structural variants in a patient who presented with multiple neoplasia and cardiac myxomata, in whom the results of targeted clinical testing and genome SRS were negative. Read More

    Complexity of medical decision-making in care provided by surgeons through patient portals.
    J Surg Res 2017 Jun 8;214:93-101. Epub 2017 Mar 8.
    Department of Pediatric Surgery, Vanderbilt Children's Medical Center, Nashville, Tennessee; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee; Department of Pediatrics, Vanderbilt Children's Medical Center, Nashville, Tennessee.
    Background: Patient portals are online applications that allow patients to interact with healthcare organizations and view information. Portal messages exchanged between patients and providers contain diverse types of communications, including delivery of medical care. The types of communications and complexity of medical decision-making in portal messages sent to surgeons have not been studied. Read More

    The regulatory 1α subunit of protein kinase A modulates renal cystogenesis.
    Am J Physiol Renal Physiol 2017 Sep 14;313(3):F677-F686. Epub 2017 Jun 14.
    Mayo Clinic, Rochester Minnesota; and
    The failure of the polycystins (PCs) to function in primary cilia is thought to be responsible for autosomal dominant polycystic kidney disease (ADPKD). Primary cilia integrate multiple cellular signaling pathways, including calcium, cAMP, Wnt, and Hedgehog, which control cell proliferation and differentiation. It has been proposed that mutated PCs result in reduced intracellular calcium, which in turn upregulates cAMP, protein kinase A (PKA) signaling, and subsequently other proliferative signaling pathways. Read More

    Benign Large-cell Calcifying Sertoli Tumor of the Testis in a 13-Year-Old Male Patient Treated With Partial Orchiectomy.
    Urology 2017 Sep 24;107:226-228. Epub 2017 May 24.
    Department of Pediatric Urology, Children's Healthcare of Atlanta and Emory University School of Medicine, Atlanta, GA.
    Large-cell calcifying Sertoli cell tumor (LCCSCT) of the testis is an exceptionally rare lesion, found sparsely in any medical literature. There is a correlation between this entity and Peutz-Jeghers syndrome and Carney complex (40% of tumors). The remaining 60% of tumors are sporadic. Read More

    Embryonic vascular disruption adverse outcomes: Linking high throughput signaling signatures with functional consequences.
    Reprod Toxicol 2017 Jun 17;70:82-96. Epub 2017 May 17.
    Toxicology and Environmental Research and Consulting, The Dow Chemical Company, 1803 Building, Midland, MI 48674, United States.
    Embryonic vascular disruption is an important adverse outcome pathway (AOP) as chemical disruption of cardiovascular development induces broad prenatal defects. High throughput screening (HTS) assays aid AOP development although linking in vitro data to in vivo apical endpoints remains challenging. This study evaluated two anti-angiogenic agents, 5HPP-33 and TNP-470, across the ToxCastDB HTS assay platform and anchored the results to complex in vitro functional assays: the rat aortic explant assay (AEA), rat whole embryo culture (WEC), and the zebrafish embryotoxicity (ZET) assay. Read More

    PRKAR1A mutation causing pituitary-dependent Cushing disease in a patient with Carney complex.
    Eur J Endocrinol 2017 Aug 18;177(2):K7-K12. Epub 2017 May 18.
    Clinical Division of Endocrinology and MetabolismDepartment of Medicine III, Medical University of Vienna, Vienna, Austria
    Context: Carney complex (CNC) is an autosomal dominant condition caused, in most cases, by an inactivating mutation of the PRKAR1A gene, which encodes for the type 1 alpha regulatory subunit of protein kinase A. CNC is characterized by the occurrence of endocrine overactivity, myxomas and typical skin manifestations. Cushing syndrome due to primary pigmented nodular adrenocortical disease (PPNAD) is the most frequent endocrine disease observed in CNC. Read More

    Myxoid fibroadenomas differ from conventional fibroadenomas: a hypothesis-generating study.
    Histopathology 2017 Oct 5;71(4):626-634. Epub 2017 Jul 5.
    Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
    Aims: Breast myxoid fibroadenomas (MFAs) are characterized by a distinctive hypocellular myxoid stroma, and occur sporadically or in the context of Carney complex, an inheritable condition caused by PRKAR1A-inactivating germline mutations. Conventional fibroadenomas (FAs) are underpinned by recurrent MED12 mutations in the stromal components of the lesions. The aim of this study was to investigate the genomic landscape of MFAs and compare it with that of conventional FAs. Read More

    Practical recommendations for the choice of anticoagulants in the management of patients with atrial fibrillation on ibrutinib.
    Leuk Lymphoma 2017 Dec 15;58(12):2811-2814. Epub 2017 May 15.
    a Department of Hematology , St Vincent's Hospital , Melbourne , Australia.
    The management of AF represents a major challenge in patients with CLL, especially in elderly patients with multiple comorbidities who are representative of the majority of patients with CLL. This is especially complex in the case of ibrutinib. Many anticoagulants have potential for pharmacological interaction with ibrutinib, and ibrutinib itself has antiplatelet properties. Read More

    Dyslipidemia, weight gain, and decreased growth velocity in a 14-year-old male.
    J Clin Lipidol 2017 Mar - Apr;11(2):562-566. Epub 2017 Feb 2.
    Fort Worth Pediatrics, Cook Children's Medical Center, Fort Worth, TX, USA.
    A 14-year-old male was referred for dyslipidemia. His findings were consistent with metabolic syndrome. Although he lacked the typical physical appearance, his accelerated weight gain combined with a decreased linear growth velocity suggested Cushing syndrome. Read More

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