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Carney Complex

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https://www.readbyqxmd.com/read/29390296/carney-complex-with-prkar1a-gene-mutation-a-case-report-and-literature-review
#1
Qiuli Liu, Dali Tong, Gaolei Liu, Yuting Yi, Dianzheng Zhang, Jun Zhang, Yao Zhang, Zaoming Huang, Yaoming Li, Rongrong Chen, Yanfang Guan, Xin Yi, Jun Jiang
RATIONALE: Carney complex (CNC) is a multiple neoplasia syndrome with autosomal dominant inheritance. CNC is characterized by the presence of myxomas, spotty skin pigmentation, and endocrine overactivity. No direct correlation has been established between disease-causing mutations and phenotype. PATIENT CONCERNS: A 16-year-old boy was admitted because of excessive weight gain over 3 years and purple striae for 1 year. Physical examination revealed Cushingoid features and spotty skin pigmentation on his face, lip, and sclera...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29372846/pathology-of-melanotic-schwannoma
#2
Borislav A Alexiev, Pauline M Chou, Lawrence J Jennings
CONTEXT: - Melanotic schwannoma (MS) is a nerve sheath tumor with a uniform composition of variably melanin-producing Schwann cells and metastatic potential. The MS is an uncommon neoplasm, accounting for less than 1% of all nerve sheath tumors, with a predilection for spinal nerve involvement. Microscopically, the tumors are characterized by spindle and epithelioid cells arranged in interlacing fascicles, with marked accumulation of melanin in neoplastic cells and associated melanophages...
January 26, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#3
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/29323076/familial-biatrial-cardiac-myxoma-with-glandular-elements-a-rare-entity-with-review-of-literature
#4
Devajit Nath, Sudheer Arava, Ruma Ray, Amol Kumar Bhoje, Rachit Saxena, Shiv Kumar Chaudhary
Cardiac myxomas are benign neoplasm of the heart with an incidence of 0.3%. Glandular cardiac myxomas are very rare and accounts for less than 3% of all cardiac myxomas. Here, we report a case of familial glandular cardiac myxoma in a 35 year old male who complained of exertional dyspneoa and weakness of right side of body on clinical presentation. Associated features of Carney's complex were not present. Family history revealed presence of cardiac myxoma in younger brother and sister. Transthoracic echocardiography detected biatrial myxoma...
October 2017: Indian Journal of Pathology & Microbiology
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
#5
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
#6
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
#7
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/29237939/a-novel-mutation-of-prkar1a-caused-carney-complex-in-a-chinese-patient
#8
Xiao-Ling Cai, Jing Wu, Ying-Ying Luo, Ling Chen, Xue-Yao Han, Li-Nong Ji
No abstract text is available yet for this article.
December 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29234618/carney-complex-eleven-open-heart-operations-in-a-single-family
#9
Sung Joon Han, Woosik Han, Min-Woong Kang, Jae Hyeon Yu, Shinkwang Kang, Myung Hoon Na
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. We analyzed their genomic loci, including the protein kinase A regulatory subunit 1 gene. The results revealed no specific mutations, except for a common single nucleotide polymorphism. This case series of Carney complex emphasizes the importance of close longitudinal follow-up because of the high rate of tumor recurrence irrespective of the site...
December 2017: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29233839/genetics-of-tumors-of-the-adrenal-cortex
#10
Fidéline Bonnet-Serrano, Jerome Bertherat
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...
December 12, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29222914/fibrolamellar-carcinoma-in-the-carney-complex-prkar1a-loss-instead-of-the-classic-dnajb1-prkaca-fusion
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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