Aleksandra Morka, Joanna Kohut, Beata Radzymińska-Chruściel, Tomasz Mroczek, Marcin Gładki, Piotr Weryński, Andrzej Rudziński, Janusz Skalski, Lesław Szydłowski
BACKGROUND: Primary heart tumors (PHTs) in the pediatric population are very rare and do not manifest any characteristic symptoms. METHODS: A retrospective analysis of 61 cases was undertaken. Data from three centers for the years 2003-2018 were gathered. The tumors' clinical course, location, number, hemodynamic, treatment, and follow-up were evaluated. Echocardiography was complemented with magnetic resonance imaging, computer tomography, and histopathological examination...
July 29, 2020: International Journal of Environmental Research and Public Health
Chang Hun Kim, Hyung Gon Je, Min Ho Ju, Chee-Hoon Lee
BACKGROUND: Infective endocarditis and cardiac myxoma have common features including fever, systemic embolism and intra-cardiac masses. For this reason, these diseases are often misdiagnosed one for another despite proper imaging studies. Herein, we report a case of suspected infective endocarditis in a patient with acute stroke, fever and a mass adjacent to the mitral valve. CASE PRESENTATION: A 24-year-old male patient presented with recurrent fever and stroke...
July 25, 2020: Journal of Cardiothoracic Surgery
Ryan Bailey, Akash Sharma, Ephraim E Parent
Carney-Stratakis Syndrome is defined as the combination of a paraganglioma and a gastrointestinal stromal tumor. This is recognized as unique from the more commonly known Carney Triad, which in addition to the above also has a pulmonary chondroma present. We present a case of Carney-Stratakis Syndrome which highlights the value of multimodality imaging in arriving at the diagnosis, as well as the role of genetic testing for definitively differentiating it from the more commonly recognized Carney Triad.
September 2020: Radiology Case Reports
Tobechi Nwankwo Mbadugha, Kohei Kanaya, Tetsuyoshi Horiuchi, Mai Iwaya, Samuel Chukwunonyerem Ohaegbulam, Kazuhiro Hongo
Background: Carney complex (CNC) is a rare autosomal dominant syndrome, manifesting mainly with cardiac, cutaneous, and mucosal myxomas. Osteochondromyxoma is known as an extremely rare bone lesion of CNC which usually appears early in life; however, there were no reports of primary bone myxoma of the skull in the patients with CNC. We present the first case of primary myxoid skull tumor in the patient with CNC. Case Description: We report the left temporal bone tumor with significant intracranial mass effect in a 58-year- old woman already diagnosed with CNC...
2020: Surgical Neurology International
Mehdi Hasnaoui, Mohamed Masmoudi, Takwa Belaid, Khalifa Mighri
Myxoma is a benign myxoid tumor of connective tissue that develops primarily in the heart. At the level of the external auditory canal, it is extremely rare. It can be isolated or associated with Carney syndrome. Only 5 cases of isolated myxoma of the external auditory canal have been reported in the literature. We present the case of a 53-year-old patient who consulted for a hearing loss that has been evolving for 3 years. Otoscopy revealed a mass filling the external auditory canal. The scan showed a total filling of the external auditory canal with a homogenous sessile neoformation of 20 × 10 mm...
June 11, 2020: Ear, Nose, & Throat Journal
Damian J Ralser, Brigitte Strizek, Patrick Kupczyk, Birgit Stoffel-Wagner, Julia Altengarten, Andreas Müller, Joachim Woelfle, Ulrich Gembruch, Dietrich Klingmueller, Waltraut M Merz, Anke Paschkowiak-Christes
Background: Carney complex (CNC) is a rare multiple endocrine neoplasia syndrome with autosomal dominant inheritance. Affected individuals present with mucocutaneous lentigines/blue nevi, cardiac and noncardiac myxomatous tumors, and multiple endocrine tumors. Mutations in PRKAR1A have been identified as genetic cause of the disease. Here, we report on pregnancy, delivery and puerperium in a woman with genetically confirmed CNC and her newborn. Case: The 31 year-old gravida 5 para 1 with CNC was referred at 26 weeks of gestation...
2020: Frontiers in Endocrinology
Kevin W Smith, Nancy Krieger, Anna Kosheleva, Matthew Urato, Pamela D Waterman, David R Williams, Dana R Carney, Jarvis T Chen, Gary G Bennett, Elmer Freeman
Objectives: The metabolic syndrome (MetS) refers to a cluster of interrelated physiological characteristics that are associated with an increased risk of cardiovascular disease and diabetes. While the clinical usefulness of the MetS has been the subject of controversy for years, increasingly sophisticated methods are being used to measure the concept. Participants: Study of community health center patients who were not diabetic; study group was evenly divided between Black and White adults...
2020: Ethnicity & Disease
Vladimir Vasilev, Adrian F Daly, Sabina Zacharieva, Albert Beckers
Pituitary adenomas are benign tumors with variable functional characteristics that can have a significant impact on patients. The majority arise sporadically, but an inherited genetic susceptibility is increasingly being recognized. Recent advances in genetics have widened the scope of our understanding of pituitary tumorigenesis. The clinical and genetic characteristics of pituitary adenomas that develop in the setting of germline-mosaic and somatic GNAS mutations (McCune-Albright syndrome and sporadic acromegaly), germline MEN1 mutations (multiple endocrine neoplasia type 1), and germline PRKAR1A mutations (Carney complex) have been well described...
April 16, 2020: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
Agnieszka Łebek-Szatańska, Maria Stelmachowska-Banaś, Grzegorz Zieliński, Andrzej Styk, Karolina M Nowak, Lucyna Papierska
We are presenting the difficulties we encountered with the female patient with previously diagnosed primary pigmented nodular adrenal disease (PPNAD) and conflicting hormonal and radiological findings a few years later. The patient underwent unilateral adrenalectomy in 2010. Despite repeated search, no other components of Carney's complex have ever been discovered. 8 years later, she was diagnosed with ACTH-dependant Cushing's syndrome. Pituitary MRI showed a lesion of less than 3 mm on the left side of adenohypophysis (suggesting microadenoma) and bilateral inferior petrosal sinus sampling (BIPSS) confirmed this suspicion...
April 15, 2020: Endokrynologia Polska
Michel Maillet, Isabelle Bourdeau, André Lacroix
PURPOSE OF REVIEW: Primary micronodular bilateral adrenocortical hyperplasias (MiBAH) are rare challenging diseases. Important progress in understanding its pathophysiology and genetics occurred in the last two decades. We summarize those progress and recent data on investigation and therapy of MiBAH focusing on primary pigmented nodular adrenocortical disease (PPNAD). RECENT FINDINGS: Larger recent cohorts of PPNAD patients from various countries have confirmed their variable Cushing's syndrome phenotypes...
June 2020: Current Opinion in Endocrinology, Diabetes, and Obesity
George Samanidis, Mazen Khoury, Marina Balanika, Despina N Perrea
Cardiac myxoma is the most common benign cardiac tumor. Cardiac myxoma location in general population is approximately 75% in the left atrium and typically arising from the foramen ovale, 23% in the right atrium and only 2% in the ventricles. The symptoms of cardiac myxomas depend on the size, mobility and relation to surrounding cardiac structures. Neurological complications resulting from cardiac myxomas are seen in 20-25% of patients. Molecular genetic studies show that mutations in PRKAR1A gene cause inherited myxomas in setting of the Carney complex tumor syndrome...
March 24, 2020: Kardiologia Polska
Myriam Decaussin-Petrucci
Familial thyroid cancers of follicular origin are rare and include syndromic and non-syndromic tumours. In familial adenomatous polyposis, the prevalence of papillary thyroid cancer is 2-12% and in 20-40% of cases it is a cribriform-morular papillary thyroid carcinoma. Morules and cribriform pattern are the two main typical criteria, associated with a nuclear and cytoplasmic immunopositivity for beta catenin. DICER1 syndrome is associated with pleuropneumoblastoma, ovarian tumors and thyroid pathology (multinodular goiter and less frequently a well-differentiated thyroid cancer without microscopic particularity)...
March 16, 2020: Annales de Pathologie
Mohamed Djerouni, Sarah N Dumont
Gastrointestinal stromal tumors (GIST) are the most common non-epithelial tumors of the gastrointestinal tract. Wild-type GISTs (WT-GIST) consist of a rare heterogeneous group characterized by the lack of activating mutations in the tyrosine kinase receptor (Kit) and/or platelet derived growth factor receptor A (PDGFRA). However, WT-GIST is characterized by other genomic alterations, including dehydrogenase succinate (SDH) deficiency or mutations in the Ras pathway. Recent studies have reported many mutations in others genes that may be incriminated in the development of WT-GISTs...
February 13, 2020: Bulletin du Cancer
Martina Rinelli, Emanuele Agolini, Giuseppe Maria Milano, Ida Russo, Alessandro Crocoli, Rita De Vito, Angela Di Giannatale, Pier Luigi Di Paolo, Antonio Novelli
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract and rarely occur in pediatric patients. 85% of pediatric GISTs and 15% of adult GISTs lack of KIT or PDGFRA mutations. 40% of these "wild-type" GISTs present loss of function mutations in genes encoding for the subunits of the succinate dehydrogenase (SDH) complex. Germline mutations in SDH complex genes have been described in patients with the Carney-Stratakis syndrome (CSS), a rare inherited condition that predisposes to GIST and paraganglioma...
February 2020: Cancer Genetics
Christina Tatsi, Constantine A Stratakis
The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Defects in AIP (mutated in Familial Isolated Pituitary Adenoma syndrome or FIPA), MEN1 (coding for menin , mutated in Multiple Endocrine Neoplasia type 1 or MEN 1), PRKAR1A (mutated in Carney complex), GPR101 (involved in X-Linked Acrogigantism or X-LAG), and SDHx (mutated in the so called "3 P association" of PAs with pheochromocytomas and paragangliomas or 3PAs) account for the most common familial syndromes associated with PAs...
December 21, 2019: Journal of Clinical Medicine
Angeline Jia Jia Shen, James King, Hamish Scott, Peter Colman, Christopher J Yates
Introduction : This review explores insights provided by next-generation sequencing (NGS) of pituitary tumors and the clinical implications. Areas covered : Although syndromic forms account for just 5% of pituitary tumours, past Sanger sequencing studies pragmatically focused on them. These studies identified mutations in MEN1, CDKN1B, PRKAR1A, GNAS and SDHx causing Multiple Endocrine Neoplasia-1 (MEN1), MEN4, Carney Complex-1, McCune Albright Syndrome and 3P association syndromes, respectively. Furthermore, linkage analysis of single-nucleotide polymorphisms identified AIP mutations in 20% with familial isolated pituitary adenomas (FIPA)...
December 2, 2019: Expert Review of Endocrinology & Metabolism
Joseph S Domino, Shane Weindel, Sarah Woodrow
Intramuscular myxomas (IMMs) are rare benign tumors of mesenchymal origin that are most often located in large skeletal muscles, particularly of the thigh. They have also been reported within the paraspinal musculature and should be considered in the differential diagnosis of a paraspinal mass. These lesions can cause neurological symptoms due to mass effect. This is a report of a 52-year-old man with multiple paraspinal tumors that exhibited concerning growth on serial imaging studies. To the authors' knowledge, this represents the first report of a patient with multiple paraspinal myxomas...
November 29, 2019: Journal of Neurosurgery. Spine
Pushpa Neppala, Sudeep Banerjee, Paul T Fanta, Mayra Yerba, Kevin A Porras, Adam M Burgoyne, Jason K Sicklick
Gastrointestinal stromal tumors (GISTs) are increasingly recognized as having diverse biology. With the development of tyrosine kinase inhibitors molecularly matched to oncogenic KIT and PDGFRA mutations, GISTs have become a quintessential model for precision oncology. However, about 5-10% of GIST lack these driver mutations and are deficient in succinate dehydrogenase (SDH), an enzyme that converts succinate to fumarate. SDH deficiency leads to accumulation of succinate, an oncometabolite that promotes tumorigenesis...
September 2019: Cancer Metastasis Reviews
Anne Jouinot, Jérôme Bertherat
Adrenocortical malignancies can occur in the context of several tumor predisposition syndromes.The Carney complex (CNC) is responsible for the majority of primary pigmented nodular adrenal diseases and is more rarely associated with adrenocortical carcinoma (ACC). Other core manifestations of CNC include cardiac and cutaneous myxomas, lentiginosis, somatotroph pituitary adenomas, Sertoli tumors, melanocytic schwannoma, and thyroid, breast, and bone tumors. CNC is mostly due to germline inactivating mutations of PRKAR1A...
2019: Experientia. Supplementum
Bin Gu, Manhua Zhu, Madison R Glass, Marie Rougié, Viktoriya D Nikolova, Sheryl S Moy, Paul R Carney, Benjamin D Philpot
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, lack of speech, ataxia, EEG abnormalities, and epilepsy. Seizures in AS individuals are common, debilitating, and often drug-resistant. Therefore, there is an unmet need for better treatment options. Cannabidiol (CBD), a major phytocannabinoid constituent of cannabis, has antiseizure activity and behavioral benefits in preclinical and clinical studies for some disorders associated with epilepsy, suggesting that the same could be true for AS...
September 10, 2019: Journal of Clinical Investigation
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