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Journal articles on the topic 'Carney'

Author: Grafiati

Published: 4 June 2021

Last updated: 31 January 2023

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1

Agarwal, Surendra Kumar, Shantanu Pande, and Bipin Chandra. "Carney Complex." World Journal of Endocrine Surgery 6, no. 1 (2014): 1–6. http://dx.doi.org/10.5005/jp-journals-10002-1138.

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ABSTRACT The complex of myxomas, spotty skin pigmentation, and endocrine over activity or Carney complex (CNC) (MIM no. 160980) is an autosomal dominant disorder that was described in 1985 by Carney. The diagnosis of CNC is made if two of the main manifestations of the syndrome are present, these need to be confirmed by histology, biochemical testing, or imaging. Alternatively, the diagnosis is made when one of the criteria is present and the patient is a carrier of a known inactivating mutation of the PRKAR1A gene. Most cases of CNC are caused by inactivating mutations in the gene encoding one of the subunits of the protein kinase A (PKA) tetrameric enzyme, namely regulatory subunit type1 alpha (PRKAR1A), located at 17q22-24. Endocrine, dermatologic, and cardiac anomalies are the main manifestations of CNC. Skin abnormalities are present in almost 77% of the CNC patients. Variety of endocrine gland tumors are observed in CNC patients, namely growth hormone secreting pituitary adenoma (acromegaly), thyroid adenomas or carcinomas, testicular tumors (large cell calcifying sertoli cell tumors), and ovarian cyst. Cardiac myxoma is the most common primary tumor affecting the heart, accounting for nearly half of cardiac neoplasms. Approximately, 30-60% of CNC patients will develop cardiac myxoma, usually at much younger ages than the sporadic tumors. A high degree of suspicion, complete evaluation, genetic counseling is important aspect of management of Carney's disease. Once confirmed, surgical removal remains the mainstay of treatment. How to cite this article Majumdar G, Agarwal SK, Pande S, Chandra B. Carney Complex. World J Endoc Surg 2014;6(1):1-6.

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2

Carney, J. Aidan, and Ronald G. Swee. "Carney Complex." American Journal of Surgical Pathology 26, no. 3 (March 2002): 393. http://dx.doi.org/10.1097/00000478-200203000-00016.

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3

Sayyouh, Mohamed, Prachi Agarwal, and Elizabeth Lee. "Carney Triad." Radiology: Cardiothoracic Imaging 2, no. 4 (August 1, 2020): e200029. http://dx.doi.org/10.1148/ryct.2020200029.

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4

Kamilaris, Crystal, Fabio Faucz, Antonis Voutetakis, and Constantine Stratakis. "Carney Complex." Experimental and Clinical Endocrinology & Diabetes 127, no. 02/03 (November 14, 2018): 156–64. http://dx.doi.org/10.1055/a-0753-4943.

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AbstractCarney complex is a rare, autosomal dominant, multiple endocrine neoplasia and lentiginosis syndrome, caused in most patients by defects in the PRKAR1A gene, which encodes the regulatory subunit type 1α of protein kinase A. Inactivating defects of PRKAR1A lead to aberrant cyclic-AMP-protein kinase A signaling. Patients may develop multiple skin abnormalities and a variety of endocrine and non-endocrine tumors. Endocrine manifestations include primary pigmented nodular adrenocortical disease, that may cause Cushing syndrome, growth-hormone secreting pituitary adenoma or pituitary somatotropic hyperplasia which can result in acromegaly, as well as gonadal and thyroid tumors. Non-endocrine tumors associated with Carney complex include myxomas of the heart, breast, and other sites, psamommatous melanotic schwannomas, breast ductal adenomas, osteochondromyxomas, and a predisposition to a number of malignancies from adrenal to pancreatic and liver cancer.

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5

Spaniol, Alison, Bethany M. Mulla, Jason G. Daily, and Christopher S. Ennen. "Carney Complex." Obstetrics & Gynecology 124 (August 2014): 426–28. http://dx.doi.org/10.1097/aog.0000000000000340.

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6

Castaneda, Mara Lisa. "Carney Complex." Journal of Pediatric Nursing 23, no. 3 (June 2008): e40. http://dx.doi.org/10.1016/j.pedn.2008.02.014.

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7

Losada Grande, Eladio José, Daniel Al Kassam Martínez, and Margarita González Boillos. "Carney complex." Endocrinología y Nutrición (English Edition) 58, no. 6 (January 2011): 308–14. http://dx.doi.org/10.1016/s2173-5093(11)70064-2.

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8

Rothacker, D., and C. Kerber. "Carney-Komplex." Der Pathologe 29, no. 4 (November 1, 2007): 294–300. http://dx.doi.org/10.1007/s00292-007-0952-4.

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9

Zahedi, Rayhaneh G., David S. Wald, and Sunil Ohri. "Carney Complex." Annals of Thoracic Surgery 82, no. 1 (July 2006): 320–22. http://dx.doi.org/10.1016/j.athoracsur.2005.07.099.

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10

Tashima, Charles K. "The Carney Eponym." Mayo Clinic Proceedings 74, no. 10 (October 1999): 1052. http://dx.doi.org/10.4065/74.10.1052.

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11

Molina Marín, Antonio Ignacio, and Deborah Molina Verdejo. "Elizabeth D. Carney." Karanos. Bulletin of Ancient Macedonian Studies 3 (December 1, 2020): 175–80. http://dx.doi.org/10.5565/rev/karanos.60.

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Elizabeth Donnelly Carney is one of the most renowned scholars on Ancient Macedonia. Carney’s research has contributed to open the studies about Ancient Macedonia to the scope of Gender Studies. Her influence in many modern interpretations concerning the complex relations of power and court network in Argead Macedonia also includes topics like mutiny, social performances (like royal banquets) and court groups (like the Royal Pages). Her scope is wide, and she usually focuses on concrete topics from multiple perspectives. Books like Women and Monarchy in Ancient Macedonia, or the recent Eurydice and the Birth of Macedonian Power (2019) (completing the works devoted to three generations of Macedonian Royal women with her Olympias (2006) and Arsinoë of Egypt and Macedon: A Royal Life (2013)) are now must-to works for world-wide researchers concerning Ancient Greece and Macedon. Among her many skills, the Editorial Board of Karanos wants to remark her kind proximity and her usual predisposition to comment and help, with her experience, to improve discussions, projects and papers with admirable knowledge.

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12

Moraes, Maria da Glória Patello de, Nelson Medina Coeli, and José Geraldo Alves de Menezes. "Tríade de Carney." Revista do Colégio Brasileiro de Cirurgiões 28, no. 6 (December 2001): 461–63. http://dx.doi.org/10.1590/s0100-69912001000600014.

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13

Tashima, Charles K. "The Carney Eponym." Mayo Clinic Proceedings 74, no. 10 (October 1999): 1052. http://dx.doi.org/10.1016/s0025-6196(11)64008-1.

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14

Carney, J. Aidan. "The Carney Eponym." Mayo Clinic Proceedings 74, no. 10 (October 1999): 1052. http://dx.doi.org/10.1016/s0025-6196(11)64009-3.

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15

Mohty, R., and C. Lok. "Syndrome de Carney." Annales de Dermatologie et de Vénéréologie 131, no. 1 (January 2004): 84–86. http://dx.doi.org/10.1016/s0151-9638(04)93553-3.

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16

Aldunce Soto, María José, Maribel Iglesias Sancho, Manuel Sánchez Regaña, and Pablo Umbert Millet. "Complejo de Carney." Piel 28, no. 2 (February 2013): 95–103. http://dx.doi.org/10.1016/j.piel.2012.10.016.

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17

Villalba, Jordi, Juan Carlos Pernas, Jaume Llauger, and Josep M. Monill. "Síndrome de Carney." Radiología 46, no. 6 (January 2004): 375–77. http://dx.doi.org/10.1016/s0033-8338(04)77994-1.

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18

Shams, Soheila, Majid Kyavar, Parham Sadeghipour, Hamideh Khesali, Kambiz Mozaffari, Nejat Mahdieh, and Mohammad Esmail Zanganehfar. "Carney Complex syndrome." Cardiovascular Pathology 49 (November 2020): 107231. http://dx.doi.org/10.1016/j.carpath.2020.107231.

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19

Losada Grande, Eladio José, Daniel Al Kassam Martínez, and Margarita González Boillos. "Complejo de Carney." Endocrinología y Nutrición 58, no. 6 (June 2011): 308–14. http://dx.doi.org/10.1016/j.endonu.2011.03.001.

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20

Groussin, L., H. Lefebvre, A. Martinez, E. Jullian, C. A. Stratakis, and J. Bertherat. "Réseau d’étude du complexe de Carney (Carney complex network : CCN)." Annales d'Endocrinologie 66, no. 3 (June 2005): 304–5. http://dx.doi.org/10.1016/s0003-4266(05)81771-8.

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21

Horvath, Anelia, and Constantine A. Stratakis. "Carney complex and lentiginosis." Pigment Cell & Melanoma Research 22, no. 5 (October 2009): 580–87. http://dx.doi.org/10.1111/j.1755-148x.2009.00613.x.

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22

Correa, Ricardo, Paraskevi Salpea, and Constantine A. Stratakis. "Carney complex: an update." European Journal of Endocrinology 173, no. 4 (October 2015): M85—M97. http://dx.doi.org/10.1530/eje-15-0209.

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Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of thePRKAR1Agene located at 17q22–24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment and molecular etiology, includingPRKAR1Amutations and the newest onPRKACAandPRKACBdefects especially as they pertain to adrenal tumors and Cushing's syndrome.

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23

Forlino, Antonella, Annalisa Vetro, Livia Garavelli, Roberto Ciccone, Edra London, Constantine A. Stratakis, and Orsetta Zuffardi. "PRKACB and Carney Complex." New England Journal of Medicine 370, no. 11 (March 13, 2014): 1065–67. http://dx.doi.org/10.1056/nejmc1309730.

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24

Cuny, T., T. T. Mac, P. Romanet, H. Dufour, I. Morange, F. Albarel, A. Lagarde, et al. "Acromegaly in Carney complex." Pituitary 22, no. 5 (July 1, 2019): 456–66. http://dx.doi.org/10.1007/s11102-019-00974-8.

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25

Watson, Joe C., Constantine A. Stratakis, Peter K. Bryant-Greenwood, Christian A. Koch, Lawrence S. Kirschner, Tung Nguyen, J. Aidan Carney, and Edward H. Oldfield. "Neurosurgical implications of Carney complex." Journal of Neurosurgery 92, no. 3 (March 2000): 413–18. http://dx.doi.org/10.3171/jns.2000.92.3.0413.

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Object. The authors present their neurosurgical experience with Carney complex. Carney complex, characterized by spotty skin pigmentation, cardiac myxomas, primary pigmented nodular adrenocortical disease, pituitary tumors, and nerve sheath tumors (NSTs), is a recently described, rare, autosomal-dominant familial syndrome that is relatively unknown to neurosurgeons. Neurosurgery is required to treat pituitary adenomas and a rare NST, the psammomatous melanotic schwannoma (PMS), in patients with Carney complex. Cushing's syndrome, a common component of the complex, is caused by primary pigmented nodular adrenocortical disease and is not secondary to an adrenocorticotropic hormone-secreting pituitary adenoma.Methods. The authors reviewed 14 cases of Carney complex, five from the literature and nine from their own experience. Of the 14 pituitary adenomas recognized in association with Carney complex, 12 developed growth hormone (GH) hypersecretion (producing gigantism in two patients and acromegaly in 10), and results of immunohistochemical studies in one of the other two were positive for GH. The association of PMSs with Carney complex was established in 1990. Of the reported tumors, 28% were associated with spinal nerve sheaths. The spinal tumors occurred in adults (mean age 32 years, range 18–49 years) who presented with pain and radiculopathy. These NSTs may be malignant (10%) and, as with the cardiac myxomas, are associated with significant rates of morbidity and mortality.Conclusions. Because of the surgical comorbidity associated with cardiac myxoma and/or Cushing's syndrome, recognition of Carney complex has important implications for perisurgical patient management and family screening. Study of the genetics of Carney complex and of the biological abnormalities associated with the tumors may provide insight into the general pathobiological abnormalities associated with the tumors may provide insight into the general pathobiological features of pituitary adenomas and NSTs.

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26

Zivgarevic, Ljiljana, Nebojsa Kozarevic, and Svetlana Zunic. "18F-FDG PET/CT “hepatic superscan” in incomplete Carney’s triad." Srpski arhiv za celokupno lekarstvo 148, no. 1-2 (2020): 115–18. http://dx.doi.org/10.2298/sarh190912117z.

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Introduction. Carney triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors ? intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin, pulmonary chondromas, and extra-adrenal paragangliomas. The term incomplete Carney triad more precisely refers to the occurrence of at least two of these tumor types. Carney triad named after J. Aidan Carney is considered to be a specific type of multiple endocrine neoplasia. Less than 30 cases of complete and less than 100 cases of incomplete Carney triad have been reported worldwide. Carney triad primarily affects young women (mean age of onset of 20 years). Case outline. A 35-year-old female patient had an initial presentation at the National PET Center, Clinical Center of Serbia, after the gastrectomy, with multiple hepatic metastases as well as bilateral pulmonary chondromas. 18F-FDG PET/CT scan revealed the following: 1) intense 18F-FDG uptake in the liver metastatic lesions, with reduced physiological activity in the brain and heart, bowel, and renal tracer uptakes commonly known as FDG hepatic superscan; 2) multiple irregular-shaped lesions, mostly calcified in bilateral pulmonary parenchyma; 3) a nodular lesion in the left adrenal gland with accumulation of 18F-FDG in its anterior part. Conclusion. The present study describes a hepatic superscan in a patient with incomplete Carney triad, including gastrointestinal stromal tumors and pulmonary bilateral chondromas, as well as a tumor in the left adrenal gland.

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27

Coelho Junior, Luilson Geraldo, and Débora Gonçalves da Silva. "Complexo de Carney esporádico com Schwannoma melanocítico e carcinoma papilífero de tireóide: relato de caso." Revista de Medicina 95, no. 1 (July 21, 2016): 33. http://dx.doi.org/10.11606/issn.1679-9836.v95i1p33-36.

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Complexo de Carney é uma forma rara de neoplasia endócrina múltipla familiar de herança autossômica dominante. Está associado à alteração de pigmentação cutânea e mucosa, doença nodular adrenal pigmentosa primária, mixomas cardíacos, cutâneos ou vaginais, adenomas hipofisários funcionantes, neoplasia testicular, adenoma ou carcinoma de tireóide e cistos ovarianos. Cerca de 70% dos indivíduos diagnosticados com Complexo de Carney têm pais afetados e 30% apresentam a forma esporádica da doença. O complexo de Carney esporádico é raro, o que dificulta ainda mais o diagnóstico. Apresentamos um caso de uma paciente de 24 anos com schwanoma de células fusiformes e carcinoma papilífero de tireóide, tais achados, remetem ao diagnóstico de suspeição de Complexo de Carney.

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28

Carney, J. Aidan. "The Carney Eponym: In Response." Mayo Clinic Proceedings 74, no. 10 (October 1999): 1052. http://dx.doi.org/10.4065/74.10.1052-a.

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29

Sung, Jaeyun, Yeon Hee Lee, Kyoung Nam Kim, and Sung Bok Lee. "Eyelid Myxoma in Carney Syndrome." Journal of the Korean Ophthalmological Society 60, no. 10 (2019): 990. http://dx.doi.org/10.3341/jkos.2019.60.10.990.

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30

Occhi, Gianluca, Daniela Regazzo, and Mattia Barbot. "Lesioni ipofisarie nel Carney Complex." L'Endocrinologo 22, S1 (May 31, 2021): 30–31. http://dx.doi.org/10.1007/s40619-021-00918-0.

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31

Efron, Nathan. "Professor Emeritus Leo G Carney." Clinical and Experimental Optometry 93, no. 2 (March 2010): 105–8. http://dx.doi.org/10.1111/j.1444-0938.2010.00452.x.

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32

Glotzer, Richard. "The Career of Mabel Carney." Safundi 4, no. 1 (April 2003): 1–23. http://dx.doi.org/10.1080/17533170300704107.

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33

CARNEY, ROBERT M., and KENNETH E. FREEDLAND. "Drs. Carney and Freedland Reply." American Journal of Psychiatry 166, no. 7 (July 2009): 829. http://dx.doi.org/10.1176/appi.ajp.2009.09040482r.

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34

Lowe, Kathleen M., William F. Young, Charalampos Lyssikatos, Constantine A. Stratakis, and J. Aidan Carney. "Cushing Syndrome in Carney Complex." American Journal of Surgical Pathology 41, no. 2 (February 2017): 171–81. http://dx.doi.org/10.1097/pas.0000000000000748.

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35

Malchoff, C. D. "Carney Complex--Clarity and Complexity." Journal of Clinical Endocrinology & Metabolism 85, no. 11 (November 1, 2000): 4010–12. http://dx.doi.org/10.1210/jc.85.11.4010.

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36

Plummer, George S., and Frederick C. Cobey. "Carney Complex and Cardiac Anesthesia." Journal of Cardiothoracic and Vascular Anesthesia 32, no. 3 (June 2018): 1377. http://dx.doi.org/10.1053/j.jvca.2018.01.052.

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37

Scherer, K., T. Müller, W. Stolz, H. Aebert, and H. Schunkert. "Ein Fall von Carney-Komplex." DMW - Deutsche Medizinische Wochenschrift 123, no. 33 (1998): 972–76. http://dx.doi.org/10.1055/s-2007-1024106.

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38

Malchoff, Carl D. "Carney Complex—Clarity and Complexity." Journal of Clinical Endocrinology & Metabolism 85, no. 11 (November 2000): 4010–12. http://dx.doi.org/10.1210/jcem.85.11.7061.

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39

Vogl, Thomas J., Thomas Lehnert, Axel Wetter, Martin G. Mack, and Martina G. Wurster. "Interventional radiology in Carney triad." European Radiology 15, no. 4 (April 24, 2004): 833–37. http://dx.doi.org/10.1007/s00330-004-2283-7.

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40

Yamada, Yukiko, Hideki Sasaki, Takashi Tominaga, and Hiroshi Ishitoya. "Biatrial myxomas with Carney complex." Asian Cardiovascular and Thoracic Annals 20, no. 4 (August 2012): 476–78. http://dx.doi.org/10.1177/0218492311436260.

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41

Hachisuka, Junichi, Miki Ichikawa, Yoichi Moroi, Kazunori Urabe, and Masutaka Furue. "A case of Carney complex." International Journal of Dermatology 45, no. 12 (December 2006): 1406–7. http://dx.doi.org/10.1111/j.1365-4632.2006.02889.x.

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42

Park, Ko Un, Hyun-Sook Kim, Seung Kwan Lee, Woon-Won Jung, and Yong-Koo Park. "Novel Mutation inPRKAR1Ain Carney Complex." Korean Journal of Pathology 46, no. 6 (2012): 595. http://dx.doi.org/10.4132/koreanjpathol.2012.46.6.595.

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43

Khurana, Arushi, Lin Mei, Anthony C. Faber, Steven C. Smith, and Sosipatros A. Boikos. "Paragangliomas in Carney–Stratakis Syndrome." Hormone and Metabolic Research 51, no. 07 (June 7, 2019): 437–42. http://dx.doi.org/10.1055/a-0918-8340.

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AbstractCarney-Stratakis Syndrome (CSS) comprises of paragangliomas (PGLs) and gastrointestinal stromal tumors (GISTs). Several of its features overlap with Carney Triad (CT) - PGLs, GISTs, and pulmonary chondromas. CSS has autosomal dominant inheritance, incomplete penetrance, and greater relative frequency of PGL over GISTs. The PGLs in CSS are multicentric and GISTs are multifocal in all the patients, suggesting an inherited susceptibility and associating the two manifestations. In this review, we highlight the clinical, pathological, and molecular characteristics of CSS, along with its diagnostic and therapeutic implications.

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44

Bosco Schamun, María Belén, Ricardo Correa, Patricia Graffigna, Valeria de Miguel, and Patricia Fainstein Day. "Carney complex review: Genetic features." Endocrinología, Diabetes y Nutrición (English ed.) 65, no. 1 (January 2018): 52–59. http://dx.doi.org/10.1016/j.endien.2017.09.004.

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45

Osband, Kent. "Open Letter to Mark Carney." Wilmott 2015, no. 75 (January 2015): 34–39. http://dx.doi.org/10.1002/wilm.10394.

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46

Espiard, S., C. Cardot-Bauters, G. Raverot, M. L. Nunes, F. Brucker-Davis, M. Houang, F. Archambeaud, et al. "Description prospective des manifestations du complexe de Carney : première analyse du PHRC national EVA-Carney." Annales d'Endocrinologie 76, no. 4 (September 2015): 320–21. http://dx.doi.org/10.1016/j.ando.2015.07.092.

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47

Orlova, E. M., M. A. Kareva, E. Iu Zakharova, G. A. Poliakova, I. V. Poddubnyĭ, K. N. Tolstov, L. I. Shiriaeva, et al. "Three cases of Carney complex in the children: clinical and molecular-genetic features of Carney complex in the children (the first description in Russia)." Problems of Endocrinology 58, no. 5 (October 15, 2012): 50–56. http://dx.doi.org/10.14341/probl201258550-56.

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Carney complex is a rare autosomal dominant condition that manifests itself as a combination of lentiginosis, heart and skin myxomas, primary pigmented micronodular adrenocortical hyperplasia with ACTH-independent hypercorticism, calcifying Sertoli cell testicular tumours, schwannomas, thyroid and breast tumours, and other neoplasms. A total of 400 patients presenting with this pathology has thus far been described worldwide. 75% of the patients with Carney complex were found to have mutations in the gene encoding for the regulatory alpha-subunit of proteinkinase A (PRKARIA). The present paper presents three cases of Carney syndrome diagnosed in adolescents. Two new mutations in the PRKARIA gene were identified (c.1111_1112insC (pp.Q370fsX11) and c.1016T>A (p.339V>D)). One of the patients had adrenal adenoma. To the best of our knowledge, it is the first case of benign adrenal tumour greater than 2 cm in size in the patient with Carney complex.

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48

Ding, Hai-Xuan, Xin-Lan Zhao, Ling-Yun Huang, Yue Jiang, and Li Yang. "A New Gene Mutation of PRKAR1A was found in a Carney Complex Case." Journal of Clinical Case reports and Images 2, no. 2 (August 14, 2021): 1–8. http://dx.doi.org/10.14302/issn.2641-5518.jcci-21-3914.

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Purpose Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare bilateral adrenocortical hyperplasia, inherited in an autosomal dominant fashion, resulting in a pro-adrenocorticotropic non-dependent Cushing's syndrome. PPNAD may be isolated or associated with Carney complex (CNC). For the diagnosis of PPNAD and CNC, a search for PRKAR1A mutations may be recommended in addition to hormonal and imaging tests. The purpose of this study was to investigate the clinical features, diagnosis and treatment of the new pathogenic mutations in the PRKAR1A gene causing Carney complex. Methods We report here a case of a patient whose clinical data were retrospectively analyzed. Results The 13-year-old patient was diagnosed with Carney complex through a series of tests and a new causative gene mutation locus (C.1-2942G>A) was identified. Conclusion Carney complex is usually more difficult to be diagnosed at an early stage in the clinic, and it is beneficial for clinicians to raise awareness of the disease for early recognition and timely intervention.

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49

Carrasco, Carmen A., David Rojas-Salazar, Renato Chiorino, Juan C. Venega, and Nelson Wohllk. "MELANOTIC NONPSAMMOMATOUS TRIGEMINAL SCHWANNOMA AS THE FIRST MANIFESTATION OF CARNEY COMPLEX." Neurosurgery 59, no. 6 (December 1, 2006): E1334—E1335. http://dx.doi.org/10.1227/01.neu.0000245608.07570.d2.

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Abstract OBJECTIVE Melanotic schwannoma is a rare neoplasm, classifiable as a peripheral nerve sheath tumor, and differentiated from a typical schwannoma by heavy pigmentation. Psammoma bodies can be visualized in more than 50% of melanotic schwannomas. Half of patients with such “psammomatous melanotic schwannomas” have Carney complex, a dominantly transmitted autosomal disorder. Most recently, the tumor suppressor gene, PRKAR1A, coding for the Type 1α regulatory subunit of protein kinase A was found to be mutated in approximately half of the known Carney complex families. Although cranial schwannomas have been described in patients with Carney complex, their numbers are too small to be considered a definite part of the syndrome. Furthermore, only melanotic schwannomas with psammoma bodies are included as diagnostic criteria for Carney complex. The objective of this report is to communicate a case of trigeminal nonpsammomatous melanotic schwannoma as the first manifestation of Carney complex. CLINICAL PRESENTATION A 34-year-old woman presented with odontalgia, right V3hypoesthesia, V2paresthesia, and diplopia. Magnetic resonance imaging scans of the brain revealed a small tumor with homogenous contrast in the right trigeminal pathway. INTERVENTION We performed an extradural approach to the right cavernous sinus by a middle fossa approach. The lateral wall was opened between the cranial nerves, and a soft and black tumor was resected in a piecemeal fashion. Histology and immunohistochemical analysis of the tumor were compatible with melanotic schwannoma, but no psammomatous bodies were identified. Endocrine evaluation showed that this patient's symptoms fulfilled the diagnostic criteria of Carney complex, with lentiginosis, multiple breast ductal adenomas, multiple hypoechoic nodules on thyroid ultrasonography, and a 4 × 5-cm asymptomatic atrial cardiac myxoma, which was removed 15 days after the neurosurgery. Three months later, a recurrence of melanotic schwannoma was identified. Molecular analyses of genomic and somatic deoxyribonucleic acid from the patient found a 578 to 579delTG mutation of PRKAR1A. CONCLUSION We present the unusual case of a nonpsammomatous trigeminal melanotic schwannoma associated with Carney complex, with confirmed PRKAR1Agene mutation. Our case highlights that neurosurgeons, in the presence of a melanotic schwannoma, should be aware of the features of the Carney complex because, in such cases, pre- and postoperative management is significantly affected. We also postulate that the absence of psammoma bodies or cranial localization do not exclude this diagnosis.

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Orlova, E. M., and M. A. Kareva. "Carney complex - multiple endocrine neoplasia syndrome." Problems of Endocrinology 58, no. 3 (June 15, 2012): 22–30. http://dx.doi.org/10.14341/probl201258322-30.

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Abstract:

Carney complex is a rare hereditary syndrome characterized by an autosomal-dominant mode of inheritance and associated with multiple neoplasias affecting endocrine organs. The typical manifestations of this syndrome include pigmented micronodular adrenal dysplasia, lentiginosis, heart and skin myxomas, giant cell sertoliomas, and some other neoplasias. To date, a few hundred patients with this pathology have been described worldwide. A review of the available data about Carney complex is presented.

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