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Carney Complex

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https://www.readbyqxmd.com/read/29222914/fibrolamellar-carcinoma-in-the-carney-complex-prkar1a-loss-instead-of-the-classic-dnajb1-prkaca-fusion
#1
P Graham Rondell, Karoline Lackner, Luigi Terracciano, Yessica González-Cantú, Joseph J Maleszewski, Patricia T Greipp, Sanford M Simon, Michael S Torbenson
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. In contrast, PRKAR1A encodes one of the regulatory subunits of protein kinase A...
December 9, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/29214333/primary-cardiac-tumors-associated-with-genetic-syndromes-a-comprehensive-review
#2
REVIEW
Elizabeth Lee, Maryam Ghadimi Mahani, Jimmy C Lu, Adam L Dorfman, Ashok Srinivasan, Prachi P Agarwal
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.
December 6, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29205368/cyclic-amp-dependent-protein-kinase-catalytic-subunit-a-prkaca-the-expected-the-unexpected-and-what-might-be-next
#3
Constantine A Stratakis
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 1970's), it was not until relatively recently that PKA defects were found to be directly involved in tumor predisposition...
December 4, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/29162369/carney-complex-review-genetic-features
#4
María Belén Bosco Schamun, Ricardo Correa, Patricia Graffigna, Valeria de Miguel, Patricia Fainstein Day
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. Inactivating mutations of the PRKAR1A gene were identified as the main cause of the disease, although since 2015 other disease-related genes, including PRKACA and PRKACB activating mutations, have also been related with Carney complex...
November 18, 2017: Endocrinología, Diabetes y Nutrición
https://www.readbyqxmd.com/read/29161691/failure-to-thrive-in-the-context-of-carney-complex
#5
Amit Tirosh, Adi Auerbach, Belen Bonella, Phaedon D Zavras, Elena Belyavskaya, Charalampos Lyssikatos, Karen Meir, Ram Weiss, Hagit Daum, Maya B Lodish, David Gillis, Constantine A Stratakis
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. RESULTS: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC...
November 21, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29132201/malignant-intercostal-psammomatous-melanotic-schwannoma-in-a-patient-with-carney-complex
#6
Yea Eun Kang, Jin-Ok Jeong, Kyung-Hee Kim, Chang-Seok Ki, Hyun Jin Kim
No abstract text is available yet for this article.
November 15, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/29109888/melanotic-schwannomas-are-rarely-seen-pigmented-tumors-with-unpredictable-prognosis-and-challenging-diagnosis
#7
Elif Keskin, Sumeyye Ekmekci, Ozgur Oztekin, Gulden Diniz
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. Most cases of MS are benign, though 10% of them are malignant with metastatic potential. MS mimics melanoma and the differential diagnosis should be made excluding other melanin producing neoplasms especially melanoma...
2017: Case Reports in Pathology
https://www.readbyqxmd.com/read/29092534/formant-frequency-discrimination-of-synthesized-vowels-in-budgerigars-melopsittacus-undulatus-and-humans
#8
Kenneth S Henry, Kassidy N Amburgey, Kristina S Abrams, Fabio Idrobo, Laurel H Carney
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. However, few studies have quantified thresholds for formant-frequency discrimination. The present study examined formant-frequency discrimination in budgerigars (Melopsittacus undulatus) and humans using stimuli with one or two formants and a constant fundamental frequency of 200 Hz...
October 2017: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/29039922/synthesis-and-crystal-structures-of-volatile-neptunium-iv-%C3%AE-diketonates
#9
Aaron T Johnson, T Gannon Parker, Sara M Dickens, Jana K Pfeiffer, Allen G Oliver, Donald Wall, Nathalie A Wall, Martha R Finck, Kevin P Carney
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...
November 6, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/29022641/-familial-isolated-pituitary-adenomas-fipa-case-report-of-four-families-and-review-of-literature
#10
Joanna Elżbieta Malicka, Joanna Świrska, Maria Kurowska, Marta Dudzińska, Jerzy S Tarach
BackgroundThe 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. ObjectivesThe aim of this retrospective study is to present 4 families in which two closely related people were diagnosed with pituitary adenomas...
October 12, 2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28984035/carney-complex-revealed-by-a-cerebellar-ischaemic-stroke-in-a-6-year-old-girl
#11
LETTER
M Acquitter, V Laparra, E Brenaut, S Peudenier, R Teissier, E Clauser, L Misery, C Abasq-Thomas
No abstract text is available yet for this article.
October 6, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28973408/fatal-carney-complex-in-siblings-due-to-de-novo-large-gene-deletion
#12
Maria Stelmachowska-Banas, Wojciech Zgliczynski, Piotr Tutka, J Aidan Carney, Márta Korbonits
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. Recently, large germline PRKAR1A deletions have been described and may cause a more severe phenotype...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28895722/dielectric-sphere-clusters-as-a-model-to-understand-infrared-spectroscopic-imaging-data-recorded-from-complex-samples
#13
Ilia L Rasskazov, Nicolas Spegazzini, P Scott Carney, Rohit Bhargava
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...
October 17, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28878664/a-novel-prkar1a-mutation-identified-in-a-patient-with-isolated-primary-pigmented-nodular-adrenocortical-disease
#14
Sira Korpaisarn, Objoon Trachoo, Bhakbhoom Panthan, Rangsima Aroonroch, Ronnarat Suvikapakornkul, Chutintorn Sriphrapradang
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. A small right adrenal adenoma of 0...
May 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28871709/unusual-presentations-of-carney-complex-in-patient-with-a-novel-prkar1a-mutation
#15
Safak Akin, Senem Noyan, Selcuk Dagdelen, Ilhan Pasaoglu, Volkan Kaynaroglu, Melike Mut Askun, Cenk Yucel Bilen, Hayyam Kiratli, Dilek Ertoy Baydar, Sevgen Onder, Cenk Sokmensuer, Kudret Aytemir, Gul Erkin, Pinar Ozgen Kiratli, Mehmet Alikasifoglu, Tomris Erbas
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. The histologic examination confirmed cardiac myxomas. He had many presentations of CNC such as growth hormone (GH) and prolactin (PRL)-secreting mixed pituitary adenoma, benign thyroid nodule, large-cell calcifying Sertoli cell tumor (LCCST), and superficial angiomyxoma...
August 5, 2017: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28809777/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
#16
Ashley Tarasen, J Andrew Carlson, M Kathryn Leonard, Glenn Merlino, David Kaetzel, Andrzej T Slominski
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. Multiple cutaneous carcinomas, including follicular cutaneous squamous cell carcinoma (FSCC), are thought to arise from stem cells in the follicular bulge...
August 15, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28796000/genomic-analysis-of-pigmented-epithelioid-melanocytomas-reveals-recurrent-alterations-in-prkar1a-and-prkca-genes
#17
Jarish N Cohen, Nancy M Joseph, Jeffrey P North, Courtney Onodera, Artur Zembowicz, Philip E LeBoit
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. A subset of PEM shows loss of cytoplasmic expression of the protein kinase A regulatory subunit alpha (PRKAR1A), a tumor suppressor gene mutated in 70% of families with CC...
October 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28745458/novel-prkar1a-mutation-in-carney-complex-with-cardiac-myxoma
#18
Kyohei Kondo, Masako Harada, Takao Konomoto, Megumi Hatanaka, Hiroyuki Nunoi
No abstract text is available yet for this article.
July 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28710192/organ-sparing-surgery-for-large-cell-calcifying-sertoli-cell-tumour-in-a-patient-with-carney-complex
#19
Maria José Freire, Pedro Nunes, Luà S Sousa, Arnaldo Figueiredo
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...
July 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28671890/management-of-infected-mesh-after-abdominal-hernia-repair-systematic-review-and-single-institution-experience
#20
Valeriy Shubinets, Martin J Carney, David L Colen, Michael N Mirzabeigi, Jason M Weissler, Michael A Lanni, Benjamin M Braslow, John P Fischer, Stephen J Kovach
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...
June 1, 2017: Annals of Plastic Surgery
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