Carney's Syndrome

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...
December 16, 2019: 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
Kai Li, Weh Tjhoi, Chunhui Shou, Weili Yang, Qing Zhang, Xiaosun Liu, Jiren Yu
Purpose: Multiple gastrointestinal stromal tumors (GISTs) are rare. The aim of this study was to investigate the clinicopathologic characteristics and prognosis of multiple GISTs. Patients and methods: Between May 2003 and June 2018, patients who underwent surgery for multiple GISTs were retrospectively analyzed. Exons 9, 11, 13, and 17 of the KIT gene, and exons 12, and 18 of the PDGFRA gene were examined in 34 tumors from 20 patients. Results: A total of 20 patients with multiple GISTs were enrolled...
2019: Cancer Management and Research
Kevin C Carney, Tanya Bronzell-Wynder, Karen Gronek
Lung transplantation is an established treatment of select patients with end-stage pulmonary disease. Lung transplantation should be considered for patients with end-stage pulmonary disease who have an expected 2-year survival of less than 50% without lung transplant and an expected 5-year survival of greater than 80% after transplant. This article reviews routine postsurgical intensive care unit management, along with management of complications such as acute kidney injury, atrial arrhythmias, deep vein thrombosis, primary graft dysfunction, hyperammonemia syndrome, and thrombocytopenia...
September 2019: Critical Care Nursing Clinics of North America
Geoffrey Joseph Changwe, Tao Zhang, Haizhou Zhang, Chengwei Zou
BACKGROUND: Cardiac myxoma, a common benign primary tumor of the heart can be categorized into syndromic (Carney Complex) and non-syndromic(isolated). Carney Complex associated myxomas can be found in any region and system (cardiac, cutaneous, osseous, genitalia), and may manifest at a tender age. On the contrary, non-syndromic cardiac myxomas are usually confined to the chambers, and symptoms often present from 5th decade of life. Aortic valve myxoma is a very unusual occurrence, and presentation in a teen is extremely rare...
July 23, 2019: Journal of Cardiothoracic Surgery
Kofi Effah, Stefan Seidl, Edith Gorges, Patrick Kafui Akakpo
Melanotic schwannoma (MS) is a rare nerve sheath tumor with fewer than 200 cases reported. MS has uncertain malignant potential and comprises 1% of all nerve sheath tumors with a predilection for the spinal nerve roots. An even rarer location for this tumor is the vagina. Up to 55% of MSs that contain psammoma bodies are associated with the Carney complex, an autosomal dominant syndrome. Criteria for malignancy in MS are still not well established and long term follow-up of patients is recommended. A 26-year-old woman presented with a bleeding vaginal tumor which was diagnosed as MS following excision...
2019: Case Reports in Obstetrics and Gynecology
Christina Tatsi, Fabio R Faucz, Emmanouil Blavakis, Benedito A Carneiro, Charalampos Lyssikatos, Elena Belyavskaya, Martha Quezado, Constantine A Stratakis
Large cell calcifying Sertoli cell tumors (LCCSCTs) are rare testicular tumors, representing <1% of all testicular neoplasms. Almost 40% of patients with LCCSCTs will present in the context of an inherited tumor predisposition condition, such as Carney complex (CNC) or Peutz-Jeghers syndrome. We report the case of a 42-year-old man who had presented with a right testicular mass, and was diagnosed with metastatic LCCSCT. The patient underwent radical orchiectomy, achieving initial remission of his disease...
July 1, 2019: Journal of the Endocrine Society
Catherine Blebea, Dong Li, Leslie Castelo-Soccio, Emily Y Chu
The epithelioid blue nevus (EBN) is a variant of the blue nevus characterized by heavily pigmented epithelioid melanocytes and lightly or nonpigmented spindle cells. It may be associated with Carney complex, a multiple neoplasia syndrome. Congenital cases of EBN not associated with Carney complex are rarely reported. We herein describe an infant who presented with multiple blue-gray nodules and papules involving the head, trunk, and extremities at birth, the corresponding histopathologic findings, and genetic testing results...
July 8, 2019: Journal of Cutaneous Pathology
T Cuny, T T Mac, P Romanet, H Dufour, I Morange, F Albarel, A Lagarde, F Castinetti, T Graillon, M O North, A Barlier, T Brue
PURPOSE: Carney complex (CNC) is a rare autosomal dominant syndrome, characterized by mucocutaneous pigmentation, cardiac, cutaneous myxomas and endocrine overactivity. It is generally caused by inactivating mutations in the PRKAR1A (protein kinase cAMP-dependent type I regulatory subunit alpha) gene. Acromegaly is an infrequent manifestation of CNC, reportedly diagnosed in 10% of patients. METHODS: We here report the case of a patient who was concomitantly diagnosed with Carney complex, due to a new mutation in PRKAR1A ((NM_002734...
October 2019: Pituitary
Kinga Hińcza, Artur Kowalik, Aldona Kowalska
The thyroid is the most common site of endocrine cancer. One type of thyroid cancer, non-medullary thyroid cancer (NMTC), develops from follicular cells and represents approximately 90% of all thyroid cancers. Approximately 5%-15% of NMTC cases are thought to be of familial origin (FNMTC), which is defined as the occurrence of the disease in three or more first-degree relatives of the patient. It is often divided into two groups: Syndrome-associated and non-syndromic. The associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex and Werner syndrome...
June 26, 2019: Genes
Kyriakos Chatzopoulos, Karen J Fritchie, Marie-Christine Aubry, J Aiden Carney, Andrew L Folpe, Jennifer M Boland
AIMS: Pulmonary chondromas, which are rare cartilaginous neoplasms that often arise in the setting of Carney triad, are morphologically similar to pulmonary hamartomas, which are much more common. There is evidence that succinate dehydrogenase (SDH) deficiency drives neoplasia in patients with Carney triad, and SDHB immunohistochemistry can be used as a surrogate marker to detect SDH deficiency. The aim of this study was to investigate the utility of SDHB immunohistochemistry in distinguishing pulmonary chondromas from hamartomas...
December 2019: Histopathology
Victor M Cáceres, Jessica Goodell, Julie Shaffner, Alezandria Turner, Jasmine Jacobs-Wingo, Samir Koirala, Monica Molina, Robynn Leidig, Martín Celaya, Kara McGinnis Pilote, Tiana Garrett-Cherry, Jhetari Carney, Kym Johnson, W Randolph Daley
Objectives: The Centers for Disease Control and Prevention launched the Temporary Epidemiology Field Assignee (TEFA) Program to help state and local jurisdictions respond to the risk of Ebola virus importation during the 2014-2016 Ebola Outbreak in West Africa. We describe steps taken to launch the 2-year program, its outcomes and lessons learned. Methods: State and local health departments submitted proposals for a TEFA to strengthen local capacity in four key public health preparedness areas: 1) epidemiology and surveillance, 2) health systems preparedness, 3) health communications, and 4) incident management...
2019: SAGE Open Medicine
Arushi Khurana, Lin Mei, Anthony C Faber, Steven C Smith, Sosipatros A Boikos
Carney-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...
June 7, 2019: Hormone and Metabolic Research
Ahmad Ibrahim, Shefali Chopra
Succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumor (GIST) is a subset of wild-type GIST that constitutes approximately 10% of gastric GISTs. SDH-mutated GISTs lack mutations in the proto-oncogene receptor tyrosine kinase (also known as KIT, c-KIT, or CD117) or platelet-derived growth factor receptor α (PDGFR-α). These tumors have female predilection, affect children and young adults, and have a spectrum of behavior from indolent to progressive. These tumors have characteristic morphologic features including multinodular architecture, multiple tumors, lymphovascular involvement, and occasional lymph node metastasis...
June 6, 2019: Archives of Pathology & Laboratory Medicine
Aydilek D. Cakır, Hande Turan, Tiraje Celkan, Nil Comunoğlu, Oya Ercan, Olcay Evliyaoglu
Carney complex (CNC) is multiple neoplasia syndrome characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine and non– endocrine tumors. Most of the cases have an inactivating mutation in PRKAR1A gene. Osteochondromyxoma (OMX) is an extremely rare myxomatous tumor of bone, affecting 1% of CNC patients. Large cell calcifying Sertoli cell tumor (LCCSCT) is a testicular tumor affecting more than 75 % of males with CNC. Here, we report a atypical case of CNC without typical pigmented skin lesions, presenting with a bone based tumor as the first manifestation...
May 23, 2019: Journal of Clinical Research in Pediatric Endocrinology
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