Sinéad 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
We describe a mosaic PRKACA duplication in a young infant who presented with a Carney-like complex: bilateral non-pigmented micronodular adrenal hyperplasia, severe early-onset Cushing's syndrome, and distinct acral soft tissue overgrowth due to cutaneous mucinosis. This represents a novel manifestation of PRKACA disruption and broadens the extra-adrenal phenotype of PRKACA-associated Cushing's syndrome. Our data suggest that Cushing's syndrome phenotypes arising from somatic and germline PRKACA abnormalities can exist on a spectrum...
December 1, 2022: European Journal of Endocrinology
Tahrir Khalf Alruwaili, Khalid Ibrahim Alkanhal, Anas M AlShoomi, Deemah Ali Almanie, Moaad Hassan Alahmed
BACKGROUND Carney complex (CNC) is a rare multiple neoplasia syndrome with autosomal dominant inheritance. CNC is frequently misdiagnosed owing to its diverse clinical characteristics. We reported the case of a 14-year-old Saudi boy with a history of gynecomastia, Cushing syndrome, large-cell calcifying Sertoli cell tumor of the testis, and CNC. CASE REPORT The patient was referred to the pediatric endocrine clinic for evaluation of bilateral slow progressing gynecomastia for 1-year duration. His clinical examination revealed lentigenes, bilateral diffuse breast enlargement (consistent with Tanner stage III), and asymmetrical testicular enlargement, more on the left side...
December 27, 2022: American Journal of Case Reports
Qian Sun, Jie Song, Wenjing Feng, Chengqin Wang, Xuecheng Yang, Mingxin Zhang, Caixia Cao
BACKGROUND: Several disease-causing genes have been implicated in Carney complex (CNC), including PRKAR1A , PDE8B (Phosphodiesterase 8B),and PDE11A (Phosphodiesterase 11A). The purpose of this study was to describe the clinical features of CNC in a Chinese patient and identify potential pathogenic mutations. METHODS: Genomic DNA was extracted from the peripheral venous blood obtained from one Chinese CNC family from Shandong province. Subsequently, targeted region sequencing (TRS) and Sanger sequencing validation were performed to identify and validate likely pathogenic mutations...
December 2022: Heliyon
Ellen F Carney
No abstract text is available yet for this article.
December 13, 2022: Nature Reviews. Nephrology
Květoslava Michalová, Ondřej Hes, Michal Michal
Compared to the WHO classification of the male genital tumors in 2016, minimal changes were introduced in the current WHO 2022. Classification of germ cell tumors remains the same as in the previous edition, dividing germ cell tumors into those derived from germ cell neoplasia in situ (GCNIS) and those independent of GCNIS. The group of GCNIS derived germ cell tumors is essentially unchanged. Most remarkable change was made to the chapter teratoma with somatic malignancy. Primitive neuroectodermal tumor (PNET), a particular type of somatic malignancy arising in the setting of teratoma, is currently termed embryonic-type neuroectodermal tumor (ENET)...
2022: Ceskoslovenská Patologie
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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