Database : MEDLINE
Search on : Carney and Complex [Words]
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[PMID]: 29372846
[Au] Autor:Alexiev BA; Chou PM; Jennings LJ
[Ad] Address:From the Department of Pathology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, Chicago, Illinois (Dr Alexiev); and the Department of Pathology, Ann and Robert H. Lurie Children's Hospital of Chicago, Illinois (Drs Chou and Jennings).
[Ti] Title:Pathology of Melanotic Schwannoma.
[So] Source:Arch Pathol Lab Med;, 2018 Jan 26.
[Is] ISSN:1543-2165
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. The MSs are frequently associated with Carney complex, showing features of psammoma bodies and adipose-like cells. Strict criteria of malignancy in MS are not well developed, although a combination of worrisome histologic features (large, vesicular nuclei, with macronucleoli, brisk mitotic activity, and necrosis) raises concern for aggressive behavior. OBJECTIVE: - To review the current status of the MS literature, discussing putative etiology, histopathology, current genetics, and differential diagnoses, including overlap with other pigmented tumors. DATA SOURCES: - Search of the literature database (PubMed, National Center for Biotechnology Information, Bethesda, Maryland) and the authors' own experiences. CONCLUSIONS: - The occurrence of MS at several unusual anatomic sites and its spectrum of morphologic patterns can result in significant diagnostic difficulty, and correct diagnosis is particularly important because of its high tendency to recur locally and to metastasize, which highlights the importance of diagnostic recognition, ancillary molecular genetic testing, and close clinical follow-up of patients with MS.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180309
[Lr] Last revision date:180309
[St] Status:Publisher
[do] DOI:10.5858/arpa.2017-0162-RA

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[PMID]: 29390296
[Au] Autor:Liu Q; Tong D; Liu G; Yi Y; Zhang D; Zhang J; Zhang Y; Huang Z; Li Y; Chen R; Guan Y; Yi X; Jiang J
[Ad] Address:Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing.
[Ti] Title:Carney complex with PRKAR1A gene mutation: A case report and literature review.
[So] Source:Medicine (Baltimore);96(50):e8999, 2017 Dec.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. DIAGNOSES: The patient was diagnosed as Carney complex. INTERVENTIONS: the patient underwent right adrenalectomy and partial adrenalectomy of the left adrenal gland. OUTCOME: Results of imaging showed bilateral adrenal nodular hyperplasia, multiple microcalcifications of the bilateral testes, and compression fracture of the thoracolumbar spine. Histopathological results confirmed multiple pigmented nodules in the adrenal glands. DNA sequencing revealed a nonsense mutation in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A; c.205C > T). After the second adrenalectomy, the Cushingoid features disappeared, and cortisol levels returned to normal. LESSONS: Carney complex is a rare disease that lacks consistent genotype-phenotype correlations. Our patient, who carried a germline PRKAR1A nonsense mutation (c.205C > T), clinical features included spotty skin pigmentation, osteoporosis, and primary pigmented nodular adrenal disease. Adrenalectomy is the preferred treatment for Cushing syndrome due to primary pigmented nodular adrenal disease.
[Mh] MeSH terms primary: Carney Complex/genetics
Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics
Mutation/genetics
[Mh] MeSH terms secundary: Adolescent
Adrenalectomy
Carney Complex/diagnosis
Carney Complex/surgery
Diagnosis, Differential
Humans
Male
Polymerase Chain Reaction
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Cyclic AMP-Dependent Protein Kinase RIalpha Subunit); 0 (PRKAR1A protein, human)
[Em] Entry month:1802
[Cu] Class update date: 180301
[Lr] Last revision date:180301
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180203
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008999

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[PMID]: 29483466
[Au] Autor:Akiyama D; Okada H; Ando T; Takeda M
[Ad] Address:Department of Cardiovascular Surgery, Yokohama Rosai Hospital, Yokohama, Japan.
[Ti] Title:[Asymptomatic Cardiac Myxoma Complicated with Carney Complex;Report of a Case].
[So] Source:Kyobu Geka;71(2):120-123, 2018 Feb.
[Is] ISSN:0021-5252
[Cp] Country of publication:Japan
[La] Language:jpn
[Ab] Abstract:Carney complex(CNC) is a rare genetic syndrome, characterized by spotty pigmentation of the skin, cardiac myxomas and multiple endocrine tumors. We present a case of asymptomatic cardiac myxoma associated with CNC. She was 49 year-old healthy woman whose son was known to have CNC. She was also diagnosed as CNC due to her family history, typical cutaneous findings and screening endocrine test. Screening ultrasound echocardiography resulted in discovering her asymptomatic left atrial myxoma of 30 mm size. Tumor was successfully resected via median sternotomy and no signs of recurrence were observed at 1 year follow up. Periodical follow up is mandatory because of its high recurrence rate.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Data-Review

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[PMID]: 29205368
[Au] Autor:Stratakis CA
[Ad] Address:Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), NIH and Section on Endocrinology and Genetics (SEGEN), NICHD, NIH, Bethesda, USA.
[Ti] Title:Cyclic AMP-dependent protein kinase catalytic subunit A (PRKACA): the expected, the unexpected, and what might be next.
[So] Source:J Pathol;244(3):257-259, 2018 Mar.
[Is] ISSN:1096-9896
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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. First, PKA's main regulatory subunit, PRKAR1A, was found to be mutated in Carney complex, a genetic syndrome that predisposes to heart tumors (cardiac myxomas) and a variety of other lesions of the endocrine system, including the adrenal cortex, and several cancers, including liver carcinoma. Then, PKA's main catalytic subunit, PRKACA, was found to be mutated in sporadic adrenal tumors and fibrolamellar liver carcinoma. Not surprisingly, therefore, a new research study published in The Journal of Pathology showed PRKACA mutations in sporadic cardiac myxomas. The real question is what other pathologies will be found to be due to PRKACA (or other PKA subunit) defects. The possibilities abound and may show the way for a totally new class of medications that target cAMP signaling to be useful in fighting the corresponding tumors. Published 2017. This article is a U.S. Government work and is in the public domain in the USA.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180214
[Lr] Last revision date:180214
[St] Status:In-Data-Review
[do] DOI:10.1002/path.5014

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[PMID]: 29233839
[Au] Autor:Bonnet-Serrano F; Bertherat J
[Ad] Address:Institut CochinINSERM U1016, CNRS UMR8104, Paris Descartes University, Paris, France.
[Ti] Title:Genetics of tumors of the adrenal cortex.
[So] Source:Endocr Relat Cancer;25(3):R131-R152, 2018 Mar.
[Is] ISSN:1479-6821
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract: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 the tumors suggests the existence of an underlying genetic predisposition. PPNAD and Carney complex are mainly due to germline-inactivating mutations of , coding for a regulatory subunit of PKA, whereas PBMAH genetic seems more complex. However, genome-wide approaches allowed the identification of a new tumor suppressor gene, , whose germline alteration could be responsible for at least 25% of PBMAH cases. Unilateral adrenocortical tumors are more frequent, mostly adenomas. The Wnt/beta-catenin pathway can be activated in both benign and malignant tumors by mutations and by inactivation in adrenal cancer (ACC). Some other signaling pathways are more specific of the tumor dignity. Thus, somatic mutations of cAMP/PKA pathway genes, mainly , coding for the catalytic alpha-subunit of PKA, are found in cortisol-secreting adenomas, whereas overexpression and alterations of p53 signaling pathway are observed in ACC. Genome-wide approaches including transcriptome, SNP, methylome and miRome analysis have identified new genetic and epigenetic alterations and the further clustering of ACC in subgroups associated with different prognosis, allowing the development of new prognosis markers.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[St] Status:In-Data-Review
[do] DOI:10.1530/ERC-17-0361

  6 / 757 MEDLINE  
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[PMID]: 28745458
[Au] Autor:Kondo K; Harada M; Konomoto T; Hatanaka M; Nunoi H
[Ad] Address:Division of Pediatrics, Department of Developmental and Urological-Reproductive Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
[Ti] Title:Novel PRKAR1A mutation in Carney complex with cardiac myxoma.
[So] Source:Pediatr Int;59(7):840-841, 2017 Jul.
[Is] ISSN:1442-200X
[Cp] Country of publication:Australia
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1707
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[St] Status:In-Process
[do] DOI:10.1111/ped.13302

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[PMID]: 29214333
[Au] Autor:Lee E; Mahani MG; Lu JC; Dorfman AL; Srinivasan A; Agarwal PP
[Ad] Address: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. echaripa@med.umich.edu.
[Ti] Title:Primary cardiac tumors associated with genetic syndromes: a comprehensive review.
[So] Source:Pediatr Radiol;48(2):156-164, 2018 Feb.
[Is] ISSN:1432-1998
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract: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.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180201
[Lr] Last revision date:180201
[St] Status:In-Data-Review
[do] DOI:10.1007/s00247-017-4027-2

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[PMID]: 29339836
[Au] Autor:Schaefer IM; Hornick JL; Bove JVMG
[Ad] Address:Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
[Ti] Title:The role of metabolic enzymes in mesenchymal tumors and tumor syndromes: genetics, pathology, and molecular mechanisms.
[So] Source:Lab Invest;, 2018 Jan 16.
[Is] ISSN:1530-0307
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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. In contrast, SDH and FH act as tumor suppressors and genomic inactivation results in succinate and fumarate accumulation, respectively. SDH deficiency may result from germline SDHA, SDHB, SDHC, or SDHD mutations and is found in autosomal-dominant familial paraganglioma/pheochromocytoma and Carney-Stratakis syndrome, describing the combination of paraganglioma and gastrointestinal stromal tumor (GIST). In contrast, patients with the non-hereditary Carney triad, including paraganglioma, GIST, and pulmonary chondroma, usually lack germline SDH mutations and instead show epigenetic SDH complex inactivation through SDHC promoter methylation. Inactivating FH germline mutations are found in patients with hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome comprising benign cutaneous/uterine leiomyomas and renal cell carcinoma. Mutant IDH, SDH, and FH share common inhibition of α-ketoglutarate-dependent oxygenases such as the TET family of 5-methylcytosine hydroxylases preventing DNA demethylation, and Jumonji domain histone demethylases increasing histone methylation, which together inhibit cell differentiation. Ongoing studies aim to better characterize these complex alterations in cancer, the different clinical phenotypes, and variable penetrance of inherited and sporadic cancer predisposition syndromes. A better understanding of the roles of metabolic enzymes in cancer may foster the development of therapies that specifically target functional alterations in tumor cells in the future. Here, the physiologic functions of these metabolic enzymes, the mutational spectrum, and associated functional alterations will be discussed, with a focus on mesenchymal tumor predisposition syndromes.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1801
[Cu] Class update date: 180117
[Lr] Last revision date:180117
[St] Status:Publisher
[do] DOI:10.1038/s41374-017-0003-6

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[PMID]: 29323076
[Au] Autor:Nath D; Arava S; Ray R; Bhoje AK; Saxena R; Chaudhary SK
[Ad] Address:Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
[Ti] Title:Familial biatrial cardiac myxoma with glandular elements: A Rare entity with review of literature.
[So] Source:Indian J Pathol Microbiol;60(4):568-570, 2017 Oct-Dec.
[Is] ISSN:0974-5130
[Cp] Country of publication:India
[La] Language:eng
[Ab] Abstract: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. Excision of both lesions was done under cardiopulmonary bypass. Histopathology confirmed myxoma with glandular elements. Postoperative course was uneventful.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1801
[Cu] Class update date: 180111
[Lr] Last revision date:180111
[St] Status:In-Process
[do] DOI:10.4103/IJPM.IJPM_211_16

  10 / 757 MEDLINE  
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[PMID]: 29318463
[Au] Autor:Fu J; Lai F; Chen Y; Wan X; Wei G; Li Y; Xiao H; Cao X
[Ad] Address:Department of Endocrinology, The First Affiliated Hospital, Sun Yat-sen University, 58 Zhongshan 2nd Rd., Guangzhou, 510080, Guangdong, China.
[Ti] Title:A novel splice site mutation of the PRKAR1A gene, C.440+5 G>C, in a Chinese family with Carney complex.
[So] Source:J Endocrinol Invest;, 2018 Jan 09.
[Is] ISSN:1720-8386
[Cp] Country of publication:Italy
[La] Language:eng
[Ab] Abstract: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. Direct sequencing was used to detect the mutation, and DNA from 70 Han Chinese people was extracted and sequenced as a control to estimate the frequency of the identified mutation. RESULTS: Within the pedigree, ten patients with CNC were identified, and a novel heterozygous mutation (c.440+5 G>C in intron 4a) was identified in the PRKAR1A gene. PCR amplification of cDNA from the control subjects and patients was performed. Agarose gel electrophoresis showed only one wild-type band in the cDNA corresponding to the former group, whereas an extra band was present in samples from the latter group corresponding to the skipping of exon 4a; this confirms that the variant affects PRKAR1A splicing. CONCLUSION: In conclusion, the c.440+5 G>C mutation is a new splice site mutation that has not been reported and has the potential to broaden the mutational spectrum of PRKAR1A that is associated with CNC, which would facilitate genetic diagnosis and counseling for CNC.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180110
[Lr] Last revision date:180110
[St] Status:Publisher
[do] DOI:10.1007/s40618-017-0817-5


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