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Carney's Syndrome

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https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#1
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
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...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29318463/a-novel-splice-site-mutation-of-the-prkar1a-gene-c-440-5-g-c-in-a-chinese-family-with-carney-complex
#2
J Fu, F Lai, Y Chen, X Wan, G Wei, Y Li, H Xiao, X Cao
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. Whole blood samples of this pedigree were collected for DNA/RNA analysis. Polymerase chain reaction (PCR) and reverse-transcription polymerase chain reaction analyses were performed to amplify the 11 exons and adjacent introns of PRKAR1A...
January 9, 2018: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/29239041/hereditary-and-familial-thyroid-tumours
#3
REVIEW
Julie Guilmette, Vania Nosé
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. Hereditary thyroid neoplasms arising from calcitonin-producing C cells are known as familial medullary thyroid carcinomas (FMTCs), and include well-documented syndromes such as multiple endocrine neoplasia IIA or IIB, and pure familial medullary thyroid carcinoma syndrome...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29239034/succinate-dehydrogenase-sdh-deficient-neoplasia
#4
REVIEW
Anthony J Gill
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. Tumours which show loss of SDHB expression are termed succinate dehydrogenase-deficient...
January 2018: Histopathology
https://www.readbyqxmd.com/read/29214333/primary-cardiac-tumors-associated-with-genetic-syndromes-a-comprehensive-review
#5
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
#6
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
#7
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
#8
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/29076898/68ga-dota-tate-pet-ct-for-molecular-imaging-of-somatostatin-receptor-expression-in-extra-adrenal-paraganglioma-in-a-case-of-complete-carney-triad
#9
Thorsten Derlin, Dagmar Hartung, Katja Hueper
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...
December 2017: Clinical Nuclear Medicine
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/28935337/necrotizing-sweet-syndrome-of-the-upper-extremity-after-elective-hand-surgery
#13
Jason S Lipof, Lisa A Beck, Swapna C Reddy, Richard D Southgate, Kimberly Carney-Young, Warren C Hammert
Sweet syndrome, or acute febrile neutrophilic dermatosis, is a systemic disease process mainly characterized by hyperpyrexia and skin lesions. A newly described entity, necrotizing Sweet syndrome, is a severe and locally aggressive dermatological condition that clinically and histopathologically resembles a necrotizing soft tissue infection. It is characterized by pathergy, a nonspecific inflammatory response to cutaneous trauma resulting in a propagation of the disease. In contrast to a necrotizing infection, this condition responds to systemic steroids...
September 19, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28931294/-carney-triad
#14
L Fiala, I Kocáková, R Šimůnek, E Krejčí, I Babánková, R Šefr
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. We report a case of Carney triad which was diagnosed at Masaryk Memorial Cancer Institute. A 57-year-old female patient with a history of gastric resection for leiomyosarcoma at the age of 14 and with an unclear pulmonary lesion evident on chest X-ray since as early as 2003...
2017: Rozhledy V Chirurgii: Měsíčník Československé Chirurgické Společnosti
https://www.readbyqxmd.com/read/28890537/nephrotic-syndrome-novel-monogenic-causes-of-galloway-mowat-syndrome
#15
Ellen F Carney
No abstract text is available yet for this article.
November 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28878664/a-novel-prkar1a-mutation-identified-in-a-patient-with-isolated-primary-pigmented-nodular-adrenocortical-disease
#16
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
#17
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/28739378/succinate-dehydrogenase-sdh-deficiency-carney-triad-and-the-epigenome
#18
REVIEW
Nikolaos Settas, Fabio R Faucz, Constantine A Stratakis
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. Another disease that shares two of the tumor components of CT, namely GIST and PGL is the Carney-Stratakis syndrome (CSS) or dyad...
July 21, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28704172/hydroconductive-and-silver-impregnated-foam-dressings-a-comparison
#19
A Alkhalil, A Day, K W Monger, J Zhang, B C Carney, H N Hoffman, L T Moffatt, J W Shupp
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)...
July 1, 2017: Journal of Wound Care
https://www.readbyqxmd.com/read/28662997/next-generation-immunohistochemistry-emerging-substitutes-to-genetic-testing
#20
REVIEW
Juliana Andrici, Anthony J Gill, Jason L Hornick
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...
June 27, 2017: Seminars in Diagnostic Pathology
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