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Carney's Syndrome

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https://www.readbyqxmd.com/read/28297688/-a-case-of-a-pituitary-adenoma-diagnosed-as-carney-complex-syndrome-in-an-older-female-patient
#1
Ai Okamoto, Daisuke Wajima, Rinsei Tei, Yasushi Shin, Misato Inoue, Shuta Aketa, Taiji Yonezawa
Carney complex syndrome is an autosomal dominant familial tumor syndrome first described by Carney et al. in 1985. The diagnostic criteria include endocrine hyperactivity and spotty skin pigmentation. A 73-year-old woman with cerebral infarction was referred to our department because her brain magnetic resonance imaging(MRI)revealed a pituitary tumor. Her blood tests revealed elevated levels of growth hormone(GH), thyroid stimulating hormone(TSH), and insulin-like growth factor-1(IGF-1). We suspected the presence of a GH-secreting tumor and performed the operation...
March 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28255981/bilateral-primary-pigmented-nodular-adrenal-disease-as-a-component-of-carney-syndrome-case-report
#2
Dorota Sikorska, Lucyna Bednarek-Papierska, Ewa Mojs, Ewa Makowska, Marek Ruchała, Włodzimierz Samborski
We report a case of a 20-year-old patient with Cushing's syndrome as a component of Carney syndrome. Carney syndrome is an autosomal dominant disease with co-existing bilateral pigmented nodular adrenal disease, heart and skin myxoma, skin pigmentation, breast fibroadenoma, testicular and ovarian tumours, thyroid tumours, and pituitary adenomas. (Endokrynol Pol 2017; 68 (1): 70-72).
2017: Endokrynologia Polska
https://www.readbyqxmd.com/read/28243730/-gastrointestinal-stromal-tumors-of-the-stomach-and-precursor-lesions
#3
E Wardelmann, W Hartmann, M Trautmann, J Sperveslage, S Elges, E Hekeler, S Huss
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors in the gastrointestinal tract although they are much less frequent than epithelial tumors. In more than 60% of cases they occur in the stomach. Especially small lesions measuring ≤1 cm in diameter, so-called microscopic GIST can occur multifocally, frequently in the proximal stomach wall and sometimes as an incidental finding in a gastrectomy specimen resected for gastric cancer. The multicentricity of GIST alone is not proof of a metastatic behavior or a syndromal or hereditary disease...
February 27, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28218265/genetics-sgpl1-mutations-cause-a-novel-srns-syndrome
#4
Ellen F Carney
No abstract text is available yet for this article.
February 20, 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28109988/epilepsy-and-restless-legs-syndrome
#5
James D Geyer, Emery E Geyer, Zachary Fetterman, Paul R Carney
OBJECTIVE: Restless legs syndrome (RLS) is a common neurological movement disorder occurring in approximately 10% of the general population. The prevalence of moderately severe RLS is 2.7% overall (3.7% for women and 1.7% for men). Epilepsy is also a common neurological disorder with significant associated morbidity and impact on quality of life. We evaluated the severity and frequency of primary RLS in patients with localization-related temporal lobe epilepsy (TLE) and investigated the role of prodromal RLS symptoms as a warning sign and lateralizing indicator...
January 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28062701/widespread-virus-replication-in-alveoli-drives-acute-respiratory-distress-syndrome-in-aerosolized-h5n1-influenza-infection-of-macaques
#6
Elizabeth R Wonderlich, Zachary D Swan, Stephanie J Bissel, Amy L Hartman, Jonathan P Carney, Katherine J O'Malley, Adebimpe O Obadan, Jefferson Santos, Reagan Walker, Timothy J Sturgeon, Lonnie J Frye, Pauline Maiello, Charles A Scanga, Jennifer D Bowling, Anthea L Bouwer, Parichat A Duangkhae, Clayton A Wiley, JoAnne L Flynn, Jieru Wang, Kelly S Cole, Daniel R Perez, Douglas S Reed, Simon M Barratt-Boyes
Human infections with highly pathogenic avian influenza A (H5N1) virus are frequently fatal but the mechanisms of disease remain ill-defined. H5N1 infection is associated with intense production of proinflammatory cytokines, but whether this cytokine storm is the main cause of fatality or is a consequence of extensive virus replication that itself drives disease remains controversial. Conventional intratracheal inoculation of a liquid suspension of H5N1 influenza virus in nonhuman primates likely results in efficient clearance of virus within the upper respiratory tract and rarely produces severe disease...
February 15, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28032156/complex-truncal-masses-in-the-setting-of-cloves-syndrome-aesthetic-and-functional-implications
#7
Jason M Weissler, Valeriy Shubinets, Martin J Carney, David W Low
BACKGROUND: Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal abnormalities (CLOVES) is a complex overgrowth syndrome with dramatic aesthetic and functional implications. The truncal masses characteristic of CLOVES syndrome are described as vascular malformations or lipomatous lesions with variable vascular components. Herein, we describe our single-institution experience with surgical excision of CLOVES-related truncal masses and discuss future directions in treatment of these complex anomalies...
December 28, 2016: Aesthetic Plastic Surgery
https://www.readbyqxmd.com/read/27943006/hereditary-syndromes-predisposing-to-endocrine-tumors-and-their-skin-manifestations
#8
REVIEW
Constantine A Stratakis
We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27943004/carney-complex-a-familial-lentiginosis-predisposing-to-a-variety-of-tumors
#9
REVIEW
Constantine A Stratakis
Carney complex is a familial lentiginosis syndrome; these disorders cover a wide phenotypic spectrum ranging from a benign inherited predisposition to develop cutaneous spots not associated with systemic disease to associations with several syndromes. Carney complex is caused by PRKAR1A mutations and perturbations of the cyclic AMP-dependent protein kinase (PKA) signaling pathway. In addition to the cutaneous findings, the main tumors associated with Carney complex are endocrine: 1) primary pigmented nodular adrenocortical disease, a bilateral adrenal hyperplasia leading to Cushing syndrome; 2) growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia leading to acromegaly; 3) thyroid and gonadal tumors, including a predisposition to thyroid cancer...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27936889/hamartomas-from-head-to-toe-an-imaging-overview
#10
Francisca Leiter Herrán, Carlos S Restrepo, Daniel I Alvarez Gómez, Thomas Suby-Long, Daniel Ocazionez, Daniel Vargas
Hamartomas are tumors composed of mesenchymal tissues such as cartilage, fat, connective tissue and smooth muscle, and can be found in virtually any organ system. These masses commonly develop sporadically, but are also seen in certain syndromes such as tuberous sclerosis or Carney triad. While their imaging appearance varies depending on the organ they arise from, findings are usually unique and a diagnosis confidently made. Radiologists must be aware of the clinical and imaging presentations of these lesions with the particular goal of avoiding unnecessary studies or invasive procedures...
December 12, 2016: British Journal of Radiology
https://www.readbyqxmd.com/read/27875378/cushing-syndrome-in-carney-complex-clinical-pathologic-and-molecular-genetic-findings-in-the-17-affected-mayo-clinic-patients
#11
Kathleen M Lowe, William F Young, Charalampos Lyssikatos, Constantine A Stratakis, J Aidan Carney
Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder...
February 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27867588/an-unusual-case-of-incomplete-carney-triad-an-18-year-old-girl-suffering-from-multiple-benign-tumors
#12
Guan Shi, Yong Cui, Ying He, Min Gong
Carney triad is a rare syndrome that involves gastrointestinal stromal tumor (GIST), pulmonary chondroma and extra-adrenal paraganglioma. Patients presenting GIST and pulmonary chondroma account for 72.7% of all incomplete Carney triad cases. Clinically, it is mainly diagnosed by radiological images and pathological results. Some studies have elucidated the pathogenesis of Carney triad. Surgical resection is the preferred treatment for Carney triad. Generally speaking, the prognosis of patients with Carney triad has been satisfied...
October 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#13
REVIEW
Samantha Peiling Yang, Joanne Ngeow
Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members...
December 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27801954/the-world-health-organization-2016-classification-of-testicular-non-germ-cell-tumours-a-review-and-update-from-the-international-society-of-urological-pathology-testis-consultation-panel
#14
REVIEW
Muhammad T Idrees, Thomas M Ulbright, Esther Oliva, Robert H Young, Rodolfo Montironi, Lars Egevad, Daniel Berney, John R Srigley, Jonathan I Epstein, Satish K Tickoo
The World Health Organization (WHO) released a new tumour classification for the genitourinary system in early 2016 after consensus by pathologists with expertise in these organs. It utilized the framework of the 2004 classification, and incorporated the most up-to-date information concerning these tumours. In testicular tumours, the majority of the changes occurred in the nomenclature and classification of germ cell tumours; however, several modifications were also made for non-germ cell tumours. Among sex cord-stromal tumours, sclerosing Sertoli cell tumour (SCT) is no longer recognized as a separate entity but as a morphological variant of SCT not otherwise specified (NOS), as CTNNB1 gene mutations have been noted in both neoplasms but not in the other forms of SCT...
March 2017: Histopathology
https://www.readbyqxmd.com/read/27756606/screening-for-genetic-causes-of-growth-hormone-hypersecretion
#15
REVIEW
Liliya Rostomyan, Albert Beckers
Growth hormone (GH) secreting pituitary tumors may be caused by genetic abnormalities in a variety of genes including AIP, MEN1, CDKN1B, and PRKAR1A. These can lead to GH secreting pituitary adenomas as an isolated occurrence (e.g. as aggressive sporadic adenomas or in familial isolated pituitary adenomas (FIPA)) or as part of syndromic conditions such as MEN1 or Carney complex. These tumors have more aggressive features than sporadic acromegaly, including a younger age at disease onset and larger tumor size, and they can be challenging to manage...
October 2016: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/27742789/novel-genetic-causes-of-pituitary-adenomas
#16
EDITORIAL
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27580546/a-novel-mutation-in-the-type-i%C3%AE-regulatory-subunit-of-protein-kinase-a-prkar1a-in-a-cushing-s-syndrome-patient-with-primary-pigmented-nodular-adrenocortical-disease
#17
Ryohei Mineo, Sachiko Tamba, Yuya Yamada, Tomonori Okita, Yusuke Kawachi, Reiko Mori, Mitsuaki Kyo, Kenji Saisho, Yohei Kuroda, Koji Yamamoto, Akiko Furuya, Tokuo Mukai, Takashi Maekawa, Yasuhiro Nakamura, Hironobu Sasano, Yuji Matsuzawa
A 40-year-old man presented with Cushing's syndrome due to bilateral adrenal hyperplasia with multiple nodules. Computed tomography scan results were atypical demonstrating an enlargement of the bilateral adrenal glands harboring multiple small nodules, but the lesion was clinically diagnosed to be primary pigmented nodular adrenocortical disease (PPNAD) based on both endocrinological test results and his family history. We performed bilateral adrenalectomy and confirmed the diagnosis histologically. An analysis of the patient and his mother's genomic DNA identified a novel mutation in the type Iα regulatory subunit of protein kinase A (PRKAR1A) gene; p...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27535175/growth-hormone-and-risk-for-cardiac-tumors-in-carney-complex
#18
W Patricia Bandettini, Alexander S Karageorgiadis, Ninet Sinaii, Douglas R Rosing, Vandana Sachdev, Marie Helene Schernthaner-Reiter, Evgenia Gourgari, Georgios Z Papadakis, Meg F Keil, Charalampos Lyssikatos, J Aidan Carney, Andrew E Arai, Maya Lodish, Constantine A Stratakis
Carney complex (CNC) is a multiple neoplasia syndrome that is caused mostly by PRKAR1A mutations. Cardiac myxomas are the leading cause of mortality in CNC patients who, in addition, often develop growth hormone (GH) excess. We studied patients with CNC, who were observed for over a period of 20 years (1995-2015) for the development of both GH excess and cardiac myxomas. GH secretion was evaluated by standard testing; dedicated cardiovascular imaging was used to detect cardiac abnormalities. Four excised cardiac myxomas were tested for the expression of insulin-like growth factor-1 (IGF-1)...
September 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27509071/surgical-management-of-carney-complex-associated-pituitary-pathology
#19
Russell R Lonser, Gautam U Mehta, Bogdan A Kindzelski, Abhik Ray-Chaudhury, Alexander O Vortmeyer, Robert Dickerman, Edward H Oldfield
BACKGROUND: Carney complex (CNC) is a familial neoplasia syndrome that is associated with pituitary-associated hypersecretion of growth hormone (GH) (acromegaly). The underlying cause of pituitary GH hypersecretion and its management have been incompletely defined. OBJECTIVE: To provide biological insight into CNC-associated pituitary pathology and improve management, we analyzed findings in CNC patients who underwent transsphenoidal surgery. METHODS: Consecutive CNC patients at the National Institutes of Health with acromegaly and imaging evidence of a pituitary adenoma(s) who underwent transsphenoidal resection of tumor(s) were included...
August 9, 2016: Neurosurgery
https://www.readbyqxmd.com/read/27427238/-wild-type-gist-clinicopathological-features-and-clinical-practice
#20
REVIEW
Ryuichi Wada, Hiroki Arai, Shoko Kure, Wei-Xia Peng, Zenya Naito
Gastrointestinal stromal tumor (GIST) is a mesenchymal tumor of the gastrointestinal tract. Mutation of KIT and PDGFRA genes is implicated in the tumorigenesis. Approximately 10% of GISTs do not harbor mutation of these genes, and they are designated as "wild type" GIST. They are classified into succinate dehydrogenase (SDH)-deficient and non-SDH-deficient groups. SDH-deficient group includes Carney triad and Carney Stratakis syndrome. The patients are young women. Tumors occur in the antrum of the stomach, and tumor cells are epithelioid...
August 2016: Pathology International
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