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Carney's Syndrome

Liaoyuan Wang, Qing Wang, Yue Zhou, Qian Xue, Xiao Sun, Zhinong Wang, Guangyu Ji
RATIONALE: Carney complex (CNC) accounts for up to two-thirds of familial cardiac myxoma, which is a rare autosomal dominant syndrome characterized by multiple mucocutaneous lesions and endocrine tumors. Mutation in the cAMP-dependent protein kinase A (PKA) regulatory (R) subunit 1 (PRKAR1A) gene has been identified as a cause of CNC. In this article, we report 3 first-degree relatives with cardiac myxoma who were diagnosed with CNC and underwent surgical resection. PRESENTING CONCERNS: The recurrence of cardiac myxoma was detected in a 45-year-old male by echocardiography 5 years after the resection was carried out, without any additional symptoms...
March 2018: Medicine (Baltimore)
Naoto Kuyama, Yasuhiro Hamatani, Satsuki Fukushima, Yoshihiko Ikeda, Eri Nakai, Atsushi Okada, Hiroyuki Takahama, Makoto Amaki, Takuya Hasegawa, Yasuo Sugano, Hideaki Kanzaki, Tomoyuki Fujita, Hatsue Ishibashi-Ueda, Satoshi Yasuda, Toshihisa Anzai, Junjiro Kobayashi
The left ventricle is a less frequent location of cardiac myxomas overall. Meanwhile, cardiac myxomas related to Carney complex (CNC), which is a multiple neoplasia syndrome involving cardiac, endocrine, neural, and cutaneous tumours, more frequently occur in the left ventricle compared with sporadic cardiac myxomas. Herein, we report a case of a 20-year-old woman with CNC who underwent complete surgical excision of a large and mobile left ventricular myxoma. In our case, echocardiography performed 4 years earlier was normal...
March 15, 2018: ESC Heart Failure
Daichi Akiyama, Hiroshi Okada, Takashi Ando, Makoto Takeda
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...
February 2018: Kyobu Geka. the Japanese Journal of Thoracic Surgery
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)
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
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
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
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
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.
February 2018: Pediatric Radiology
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 1970s), it was not until relatively recently that PKA defects were found to be directly involved in tumor predisposition...
March 2018: Journal of Pathology
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
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...
2018: Hormone Research in Pædiatrics
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
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
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
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
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
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
Ellen F Carney
No abstract text is available yet for this article.
November 2017: Nature Reviews. Nephrology
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
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