keyword
https://read.qxmd.com/read/36456122/unusual-findings-in-a-patient-with-carney-complex-due-to-a-novel-prkar1a-mutation
#1
JOURNAL ARTICLE
Reinhard E Friedrich, Martin Zenker
BACKGROUND/AIM: Carney complex (CNC) is a rare autosomal dominant tumor-predisposition syndrome with variable expression. Its main features are pigmentary skin lesions, soft-tissue myxomas, and endocrine overactivity or tumors. There is occasional overlap with other syndromes, and oligosymptomatic cases may escape diagnosis. This report describes the long journey of a patient until the diagnosis of CNC was finally made after a thorough diagnostic workup. CASE REPORT: The female patient was referred for treatment of a subcutaneous tumor of the lower abdomen...
December 2022: Anticancer Research
https://read.qxmd.com/read/36401106/the-spectrum-of-familial-pituitary-neuroendocrine-tumors
#2
REVIEW
Eleni Armeni, Ashley Grossman
Hereditary pituitary tumorigenesis is seen in a relatively small proportion (around 5%) of patients with pituitary neuroendocrine tumors (PitNETs). The aim of the current review is to describe the main clinical and molecular features of such pituitary tumors associated with hereditary or familial characteristics, many of which have now been genetically identified. The genetic patterns of inheritance are classified into isolated familial PitNETs and the syndromic tumors. In general, the established genetic causes of familial tumorigenesis tend to present at a younger age, often pursue a more aggressive course, and are more frequently associated with growth hormone hypersecretion compared to sporadic tumors...
November 18, 2022: Endocrine Pathology
https://read.qxmd.com/read/36387130/bladder-paraganglioma-gastrointestinal-stromal-tumor-and-sdhb-germline-mutation-in-a-patient-with-carney-stratakis-syndrome-a-case-report-and-literature-review
#3
REVIEW
Yihang Shi, Li Ding, Chengqiang Mo, Yanji Luo, Shaoqing Huang, Shirong Cai, Yanzhe Xia, Xinhua Zhang
Background: Carney-Stratakis syndrome (CSS) is a rare dyad of paraganglioma (PGL)/pheochromocytoma (PHEO) and gastrointestinal stromal tumor (GIST). PGLs are neuroendocrine tumors of neural crest origin which are mostly found in the head, neck, and retroperitoneal space. GISTs are the most common mesenchymal tumors of the digestive tract, usually caused by KIT/PDGFRA mutations. Here, we reported a case of CSS with unusual bladder PGL and succinate dehydrogenase (SDH) deficient GIST due to a germline mutation in SDH-subunit B (SDHB) gene...
2022: Frontiers in Oncology
https://read.qxmd.com/read/36291443/scn1b-genetic-variants-a-review-of-the-spectrum-of-clinical-phenotypes-and-a-report-of-early-myoclonic-encephalopathy
#4
REVIEW
Zahra Zhu, Elizabeth Bolt, Kyra Newmaster, Wendy Osei-Bonsu, Stacey Cohen, Vishnu Anand Cuddapah, Siddharth Gupta, Sita Paudel, Debopam Samanta, Louis T Dang, Paul R Carney, Sunil Naik
BACKGROUND: Pathogenic variants in SCN1B, the gene encoding voltage-gated sodium channel b1/b1B subunits are associated with a spectrum of epileptic disorders. This study describes a child with early myoclonic encephalopathy and a compound heterozygous variant in the SCN1B gene (p.Arg85Cys and c.3G>C/p.Met1), along with the child's clinical response to anti-seizure medications (ASMs) and the ketogenic diet. We reviewed the current clinical literature pertinent to SCN1B-related epilepsy...
October 1, 2022: Children
https://read.qxmd.com/read/36255590/carney-complex-why-thorough-medical-history-taking-is-so-important-report-of-three-cases-and-review-of-the-literature
#5
REVIEW
B Harbeck, J Flitsch, I Kreitschmann-Andermahr
PURPOSE: To present a new case series and to review the literature on Carney complex (CNC) with an emphasis on highlighting key clinical features of the disease and pointing out possibilities of shortening the diagnostic process. METHOD: Searches of PubMed, identifying relevant reports up to April 2022. RESULTS: CNC is a rare, autosomally dominant inherited neoplasia -endocrinopathy syndrome with high clinical variability, even among members of the same family...
October 18, 2022: Endocrine
https://read.qxmd.com/read/36251610/mosaic-prkaca-duplication-causing-a-novel-and-distinct-phenotype-of-early-onset-cushing-syndrome-and-acral-cutaneous-mucinosis
#6
JOURNAL ARTICLE
Sinead M McGlacken-Byrne, Ashraf Abdelmaksoud, Mohammad Haini, Liina Palm, Michael Ashworth, Juan Li, Wei Wang, Xiumin Wang, Jian Wang, Bridget Callaghan, Veronica A Kinsler, Francesca Faravelli, Mehul T Dattani
Genetic alterations within the cAMP/PKA pathway result in a spectrum of adrenocortical disorders. Implicated genes include GNAS, PDE8, PDE11A, PRKAR1A/B, and PRKACA. To date, somatic PRKACA mutations and germline PRKACA copy number gain have been associated with the development of cortisol-secreting adrenocortical adenomas and bilateral adrenal hyperplasia, respectively. While perturbations within the PRKAR1A gene are known to cause Carney complex, PKRACA mutations are rarely associated with an extra-adrenal phenotype...
October 1, 2022: European Journal of Endocrinology
https://read.qxmd.com/read/36193716/a-novel-missense-prkar1a-variant-causes-carney-complex
#7
JOURNAL ARTICLE
Boram Kim, Han Na Jang, Kyung Shil Chae, Ho Seop Shin, Yong Hwy Kim, Su Jin Kim, Moon-Woo Seong, Jung Hee Kim
The Carney complex (CNC) is an autosomal dominant disorder characterized by endocrine and nonendocrine tumors. Loss-of-function variants of protein kinase A regulatory subunit 1 alpha (PRKAR1A) are common causes of CNC. Here, we present the case of a patient with CNC with a novel PRKAR1A missense variant. A 21-year-old woman was diagnosed with CNC secondary to acromegaly and adrenal Cushing syndrome. Genetic analysis revealed a novel missense heterozygous variant of PRKAR1A (c.176A>T). Her relatives, suspected of having CNC, also carried the same variant...
October 4, 2022: Endocrinology and Metabolism
https://read.qxmd.com/read/36181314/efficacy-of-aromatase-inhibitor-therapy-in-a-case-with-large-cell-calcifying-sertoli-cell-tumour-associated-prepubertal-gynaecomastia
#8
Gözde Akın Kağızmanlı, Özge Besci, Kübra Yüksek Acinikli, Gül Şeker, Elif Yaşar, Yeşim Öztürk, Korcan Demir, Ece Böber, Ayhan Abacı
OBJECTIVES: Large cell calcifying Sertoli cell tumours (LCCSCTs) are one of the infrequent causes of prepubertal gynaecomastia. Most of these tumours are in the content of Peutz-Jeghers syndrome (PJS) or other familial syndromes (Carney complex). CASE PRESENTATION: Here, we report a long-term follow-up of an 8.5-year-old prepubertal boy with a diagnosis of PJS, who presented with bilateral gynaecomastia, advanced bone age and accelerated growth velocity, and were found to have bilateral multifocal testicular microcalcifications...
October 3, 2022: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://read.qxmd.com/read/36013583/a-rare-case-of-multiple-gastrointestinal-stromal-tumors-coexisting-with-a-rectal-adenocarcinoma-in-a-patient-with-attenuated-familial-adenomatous-polyposis-syndrome-and-a-mini-review-of-the-literature
#9
REVIEW
Daniel Paramythiotis, Filippos Kyriakidis, Eleni Karlafti, Triantafyllia Koletsa, Anastasia Tsakona, Petros Papalexis, Aristeidis Ioannidis, Petra Malliou, Smaro Netta, Antonios Michalopoulos
BACKGROUND: Multiple gastrointestinal stromal tumors (GISTs) are extremely rare entities that exist either as spontaneous GISTs or as part of various syndromes, such as Carney's triad and type I neurofibromatosis (NF1). Attenuated familial adenomatous polyposis (AFAP) is a variant of familial adenomatous polyposis (FAP) with a milder clinical presentation. Both GISTs and AFAP have been reported to coexist with colorectal cancer, but the coexistence of GISTs and AFAP has never been reported in the literature before...
August 18, 2022: Medicina
https://read.qxmd.com/read/35925470/unilateral-or-bilateral-adrenalectomy-in-ppnad-six-cases-from-a-single-family-followed-up-over-40-years
#10
JOURNAL ARTICLE
G Vitellius, B Donadille, B Decoudier, A Leroux, S Deguelte, S Barraud, J Bertherat, B Delemer
The most frequent endocrine Carney complex manifestation is a bilateral primary pigmented nodular adrenocortical disease and bilateral adrenalectomy (BA) is therefore its main treatment. In this study, a 40 years follow-up of six members of the same family with heterozygous PRKAR1A germline mutation, is reported over two generations. The first cases, two sisters with severe hyperandrogenism and Cushing syndrome (CS) diagnosed in 1972 at age 14 and 25, were successfully treated with unilateral adrenalectomy (UA)...
October 2022: Endocrine
https://read.qxmd.com/read/35911361/a-rare-case-of-horseshoe-kidney-with-multiple-atrial-myxomas-presenting-as-cerebrovascular-accident
#11
Andrea Marin, Ankita Prasad, Sharon Hechter, Lwoodsky Charles, Priya Patel, Mehnoor Durrani, Ayesha Imtiaz, Nagapratap Ganta, Arthur Okere, Varun Vankeshwaram, Pramil Cheriyath
Myxomas are benign tumors of mesenchymal origin, containing a few pluripotent cells in the myxomatous stroma. They usually present at 30-40 years of age and are more common in females than males. These tumors mostly arise in the atria and protrude into the atrial lumen. They cause constitutional symptoms like fever and weight loss and obstructive symptoms related to outflow obstruction in the heart. Some tumors are more fragile and cause embolism and may present as stroke. Mostly sporadic but familial cases and myxomas associated with Carney syndrome (CNC) tend to be multiple...
June 2022: Curēus
https://read.qxmd.com/read/35872550/conjunctival-myxoma-masquerading-as-conjunctival-lymphoma-a-case-report
#12
JOURNAL ARTICLE
Majed Alkharashi, Hind M Alkatan, Ahmed A Alhumidi, Wael Otaif
INTRODUCTION AND IMPORTANCE: Ocular myxomas are very rare and can involve the orbit, eyelids, and conjunctiva. Conjunctival myxoma can be misdiagnosed as amelanotic nevus, conjunctival cyst, or ocular surface squamous neoplasia, among others. They can appear as an isolated lesion or can be associated with systemic manifestations as part of the Carney complex or Zollinger-Ellison syndrome. CASE PRESENTATION: We describe a 64-year-old healthy male who presented with a right eye painless peri-limbal salmon-colored patch lesion in the infero-temporal bulbar conjunctiva over a period of 2 years...
July 21, 2022: International Journal of Surgery Case Reports
https://read.qxmd.com/read/35818469/malignant-psammomatous-melanotic-schwannoma-mimicking-adrenal-cyst-case-report
#13
JOURNAL ARTICLE
Aleksandar Zlatarov, Plamena Drenakova, Stefan Mihaylov, Neli Zgurova, Lilyana Petkova, Krasimir D Ivanov
BACKGROUND: Melanotic schwannoma is a melanin producing nerve sheath tumors. Rarely, it can be associated with psammoma bodies, called psammomatous melanotic schwannoma. Psammomatous melanotic schwannomas are associated in up to 10% of the cases with Carney's syndrome. The rarity of the lesion, which may present at different localizations create difficulty in placing a correct initial diagnosis. Definitive diagnosis is made after complete tumor excision and pathomorphological evaluation...
2022: Annals of pediatric surgery
https://read.qxmd.com/read/35793808/laparoscopic-resection-for-recurrent-gastrointestinal-stromal-tumors-and-paraganglioma-in-a-patient-with-carney-stratakis-syndrome-a-case-report
#14
Akio Fukada, Tsuyoshi Takahashi, Yukinori Kurokawa, Tadafumi Asaoka, Ryugo Teranishi, Takuro Saito, Kazuyoshi Yamamoto, Kotaro Yamashita, Koji Tanaka, Tomoki Makino, Kiyokazu Nakajima, Daisuke Umeda, Eiichi Morii, Seiichi Hirota, Hidetoshi Eguchi, Yuichiro Doki
Carney-Stratakis syndrome (CSS) is a familial syndrome characterized by gastrointestinal stromal tumors (GISTs) and paragangliomas, often at multiple sites. A 34-year-old woman who had undergone resection of gastric GISTs, liver metastases, and a retroperitoneal paraganglioma in her previous hospital was referred to our hospital due to recurrence after 5 years. She presented with two gastric GISTs, a liver tumor, and a peritoneal tumor. As molecular-targeted agents are reported to be ineffective against CSS-related GISTs, we selected surgical resection for the recurrence...
July 6, 2022: Asian Journal of Endoscopic Surgery
https://read.qxmd.com/read/35769184/carney-complex-with-multiple-breast-tumours-including-breast-cancer-a-case-report
#15
Akihiro Fujimoto, Ayaka Sakakibara, Yoshiki Numajiri, Kazuo Matsuura, Tomonori Kawasaki, Akihiko Osaki, Toshiaki Saeki
Carney complex (CNC) is a rare multiple tumour syndrome characterized by cutaneous pigmented lesions, myxoma and endocrine tumours, among others, and is inherited as an autosomal dominant trait. Protein kinase cAMP-dependent type I regulatory subunit alpha ( PRKAR1A ) is known to be the responsible gene. Breast myxomatosis and ductal adenoma, which are regarded as benign, are well-known mammary lesions of CNC and are included in the main diagnostic criteria. In this case, a 59-year-old woman with repeated cardiac myxoma was diagnosed with CNC with PRKAR1A mutation...
June 2022: Oxford Medical Case Reports
https://read.qxmd.com/read/35740423/comparison-of-transcriptional-signatures-of-three-staphylococcal-superantigenic-toxins-in-human-melanocytes
#16
JOURNAL ARTICLE
Nabarun Chakraborty, Seshamalini Srinivasan, Ruoting Yang, Stacy-Ann Miller, Aarti Gautam, Leanne J Detwiler, Bonnie C Carney, Abdulnaser Alkhalil, Lauren T Moffatt, Marti Jett, Jeffrey W Shupp, Rasha Hammamieh
Staphylococcus aureus , a gram-positive bacterium, causes toxic shock through the production of superantigenic toxins (sAgs) known as Staphylococcal enterotoxins (SE), serotypes A-J (SEA, SEB, etc.), and toxic shock syndrome toxin-1 (TSST-1). The chronology of host transcriptomic events that characterizes the response to the pathogenesis of superantigenic toxicity remains uncertain. The focus of this study was to elucidate time-resolved host responses to three toxins of the superantigenic family, namely SEA, SEB, and TSST-1...
June 14, 2022: Biomedicines
https://read.qxmd.com/read/35625779/genetic-alterations-in-benign-adrenal-tumors
#17
REVIEW
Georgia Pitsava, Constantine A Stratakis
The genetic basis of most types of adrenal adenomas has been elucidated over the past decade, leading to the association of adrenal gland pathologies with specific molecular defects. Various genetic studies have established links between variants affecting the protein kinase A (PKA) signaling pathway and benign cortisol-producing adrenal lesions. Specifically, genetic alterations in GNAS , PRKAR1A , PRKACA , PRKACB , PDE11A , and PDE8B have been identified. The PKA signaling pathway was initially implicated in the pathogenesis of Cushing syndrome in studies aiming to understand the underlying genetic defects of the rare tumor predisposition syndromes, Carney complex, and McCune-Albright syndrome, both affected by the same pathway...
April 30, 2022: Biomedicines
https://read.qxmd.com/read/35568059/steroidogenic-factor-1-lineage-origin-of-skin-lesions-in-carney-complex-syndrome
#18
JOURNAL ARTICLE
Isabelle Sahut-Barnola, Anne-Marie Lefrançois-Martinez, Damien Dufour, Jean-Marie Botto, Crystal Kamilaris, Fabio R Faucz, Constantine A Stratakis, Pierre Val, Antoine Martinez
Carney complex is a rare familial multineoplastic syndrome predisposing to endocrine and nonendocrine tumors due to inactivating mutations of PRKAR1A, leading to perturbations of the cAMP‒protein kinase A signaling pathway. Skin lesions are the most common manifestation of Carney complex, including lentigines, blue nevi, and cutaneous myxomas in unusual locations such as oral and genital mucosa. Unlike endocrine disorders, the pathogenesis of skin lesions remains unexplained. In this study, we show that embryonic invalidation of the Prkar1a gene in steroidogenic factor-1‒expressing cells leads to the development of familial skin pigmentation alterations, reminiscent of those in patients with Carney complex...
May 12, 2022: Journal of Investigative Dermatology
https://read.qxmd.com/read/35420224/acute-phase-protein-response-and-changes-in-lipoprotein-particle-size-in-dogs-with-systemic-inflammatory-response-syndrome
#19
JOURNAL ARTICLE
Erica Behling-Kelly, Carol E Haak, Patrick Carney, Jessica Waffle, Kelly Eaton, Robert Goggs
BACKGROUND: Improved methodology to measure acute phase proteins and determination of lipoprotein particle-size distribution (PSD) could be clinically useful in dogs with systemic inflammatory processes. OBJECTIVES: Evaluate an immunoturbidometric assay for serum amyloid A (SAA) and lipoprotein PSD in dogs with sepsis, nonseptic systemic inflammation, and in healthy controls. Correlate dyslipidemic changes with SAA and C-reactive protein (CRP) concentrations. ANIMALS: Twenty-five dogs with sepsis, 15 dogs with nonseptic systemic inflammation, and 22 healthy controls...
May 2022: Journal of Veterinary Internal Medicine
https://read.qxmd.com/read/35349723/molecular-genetic-testing-in-the-management-of-pituitary-disease
#20
REVIEW
Eva C Coopmans, Márta Korbonits
OBJECTIVE: Most pituitary tumours occur sporadically without a genetically identifiable germline abnormality, a small but increasing proportion present with a genetic defect that predisposes to pituitary tumour development, either isolated (e.g., aryl hydrocarbon receptor-interacting protein, AIP) or as part of a tumour-predisposing syndrome (e.g., multiple endocrine neoplasia (MEN) type 1, Carney complex, McCune-Albright syndrome or pituitary tumour and paraganglioma association). Genetic alterations in sporadic pituitary adenomas may include somatic mutations (e...
October 2022: Clinical Endocrinology
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