scholarly journals Third Recurrence of Cardiac Myxoma in a Carney Complex Patient

2021 ◽  
Vol 34 (4) ◽  
Author(s):  
David Alejandro Salazar Jaya ◽  
◽  
Kevin Rafael de Paula Morales ◽  
Félix Ramires ◽  
Paulo Sampaio Gutierrez ◽  
...  
Keyword(s):  
Cardiac Myxoma ◽  
Carney Complex ◽  
Complex Patient

MELANOTIC NONPSAMMOMATOUS TRIGEMINAL SCHWANNOMA AS THE FIRST MANIFESTATION OF CARNEY COMPLEX

Neurosurgery ◽  
2006 ◽  
Vol 59 (6) ◽  
pp. E1334-E1335 ◽  
Author(s):  
Carmen A. Carrasco ◽  
David Rojas-Salazar ◽  
Renato Chiorino ◽  
Juan C. Venega ◽  
Nelson Wohllk
Keyword(s):  
Diagnostic Criteria ◽  
Cranial Nerves ◽  
Cardiac Myxoma ◽  
Carney Complex ◽  
Regulatory Subunit ◽  
Nerve Sheath Tumor ◽  
Psammoma Bodies ◽  
Middle Fossa Approach ◽  
Melanotic Schwannoma ◽  
The Right

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.

scholarly journals SUN-714 Phenotype of Patients Carrying the c.709(-7-2)del PRKAR1A Mutation in a Large Cohort of 41 Patients

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Fatimetou Abderrahmane ◽  
Gerald Raverot ◽  
Herve Lefebvre ◽  
CARDOT Catherine ◽  
Marie-Christine Vantyghem ◽  
...  
Keyword(s):  
Hot Spot ◽  
Cardiac Myxoma ◽  
Real Life ◽  
Tolerance Test ◽  
Carney Complex ◽  
Biological Evaluation ◽  
Oral Glucose ◽  
Cardiac Ultrasound ◽  
Index Cases

Abstract Objective: The Carney Complex (CNC) is a multiple endocrine and non endocrine neoplasia, mostly due to PRKAR1A mutations. The PRKAR1A mutation c.709(-7-2)del located in the intron 7 is one of the three known hot spot. The objective of this study is to described the CNC manifestations presented by patients harboring the c.709(-7-2)del. Methods: This study is a multicenter retrospective longitudinal study. Patients data have been collected from medical files. Multicenter retrospective study. Age at the diagnosis or at the screening of the different CNC manifestations is described by mean +/- standard deviation or median (interquartile) according to the distribution. Results: 41 patients [14 index cases and 37 relatives, 29 females, 43.6 ±14.3 years old (yo)] from 15 families have been included. 58% of the cohort including the 14 index cases presented with a primary pigmented adrenal disease (PPNAD) at 24-yo (18-40). For the remaining 17 patients, only 3 patients had normal glucocorticoid biological evaluation while others presented with subclinical hypercortisolism diagnosed at 35-yo (22-50). 7% of the cohort had an abnormal IGF1 and/or GH after oral glucose tolerance test while other patients had normal evaluation with a last test performed at 41 ±15yo. 22% of patients presented with lentigines diagnosed at 43yo (24-51) while others had no dermatological lesions at the last examination performed at 37 ±14yo. 13% of patients had thyroid nodules or papillary carcinoma diagnosed at 46 ±15yo (normal ultrasound for others at 37 ±15yo). At the last cardiac ultrasound, pituitary magnetic resonance imaging (MRI), spine MRI, testicular ultrasound, mammography performed at 40±15yo, 37.9±14.3yo, 46±12yo, 35±13yo and 48±12yo, no patient had cardiac myxoma, pituitary adenoma, schwannoma, testicular calcifying tumor or breast myxoma. Overall, 52% of the relatives did not have any manifestations of the disease. Penetrance of the disease is 65%. Conclusion: The phenotype of patients carrying the c.709(-7-2)del PRKAR1A mutation is restricted to PPNAD, lentigines, fluctuating somatotroph anomalies and thyroid tumors. Follow-up of these patients should also be individualized from other CNC patients. Imaging, especially repeated cardiac ultrasound may not be needed to follow these patients The results of this real life study will be useful to elaborate further recommendation for follow-up of CNC patients.

Novel PRKAR1A mutation in Carney complex with cardiac myxoma

2017 ◽  
Vol 59 (7) ◽  
pp. 840-841 ◽  
Author(s):  
Kyohei Kondo ◽  
Masako Harada ◽  
Takao Konomoto ◽  
Megumi Hatanaka ◽  
Hiroyuki Nunoi
Keyword(s):  
Cardiac Myxoma ◽  
Carney Complex

The Carney Complex: Unusual Skin Findings and Recurrent Cardiac Myxoma

2005 ◽  
Vol 141 (7) ◽  
Author(s):  
Kenneth R. Bennett ◽  
Bobby J. Heath ◽  
Lawrence L. Creswell ◽  
Mark A. Veugelers ◽  
Deborah A. McDermott ◽  
...  
Keyword(s):  
Cardiac Myxoma ◽  
Carney Complex

scholarly journals Familial Carney complex with biatrial cardiac myxoma

2017 ◽  
Vol 15 (5) ◽  
pp. 155-157 ◽  
Author(s):  
Masao Takigami ◽  
Masahito Kawata ◽  
Masayuki Kintsu ◽  
Mutsuki Kodaira ◽  
Koji Sogabe ◽  
...  
Keyword(s):  
Cardiac Myxoma ◽  
Carney Complex

scholarly journals Carney Complex

2014 ◽  
Vol 6 (1) ◽  
pp. 1-6 ◽  
Author(s):  
Surendra Kumar Agarwal ◽  
Shantanu Pande ◽  
Bipin Chandra
Keyword(s):  
Skin Pigmentation ◽  
Cardiac Myxoma ◽  
Large Cell ◽  
Carney Complex ◽  
Regulatory Subunit ◽  
Surgical Removal ◽  
Endocrine Gland ◽  
Autosomal Dominant Disorder ◽  
Complete Evaluation ◽  
Cardiac Neoplasms

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.

scholarly journals Growth hormone and risk for cardiac tumors in Carney complex

2016 ◽  
Vol 23 (9) ◽  
pp. 739-746 ◽  
Author(s):  
W Patricia Bandettini ◽  
Alexander S Karageorgiadis ◽  
Ninet Sinaii ◽  
Douglas R Rosing ◽  
Vandana Sachdev ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Cardiac Myxoma ◽  
Heart Tissue ◽  
Carney Complex ◽  
Cardiac Tumors ◽  
Gh Secretion ◽  
Albright Syndrome ◽  
Cardiac Myxomas ◽  
Gh Excess

Carney complex (CNC) is a multiple neoplasia syndrome that is caused mostly by PRKAR1A mutations. Cardiac myxomas are the leading cause of mortality in CNC patients who, in addition, often develop growth hormone (GH) excess. We studied patients with CNC, who were observed for over a period of 20 years (1995–2015) for the development of both GH excess and cardiac myxomas. GH secretion was evaluated by standard testing; dedicated cardiovascular imaging was used to detect cardiac abnormalities. Four excised cardiac myxomas were tested for the expression of insulin-like growth factor-1 (IGF-1). A total of 99 CNC patients (97 with a PRKAR1A mutation) were included in the study with a mean age of 25.8 ± 16.6 years at presentation. Over an observed mean follow-up of 25.8 years, 60% of patients with GH excess (n = 46) developed a cardiac myxoma compared with only 36% of those without GH excess (n = 54) (P = 0.016). Overall, patients with GH excess were also more likely to have a tumor vs those with normal GH secretion (OR: 2.78, 95% CI: 1.23–6.29; P = 0.014). IGF-1 mRNA and protein were higher in CNC myxomas than in normal heart tissue. We conclude that the development of cardiac myxomas in CNC may be associated with increased GH secretion, in a manner analogous to the association between fibrous dysplasia and GH excess in McCune–Albright syndrome, a condition similar to CNC. We speculate that treatment of GH excess in patients with CNC may reduce the likelihood of cardiac myxoma formation and/or recurrence of this tumor.

The Carney Complex With Ocular Signs Suggestive of Cardiac Myxoma

1991 ◽  
Vol 111 (6) ◽  
pp. 699-702 ◽  
Author(s):  
Robert H. Kennedy ◽  
Joseph C. Flanagan ◽  
Ralph C. Eagle ◽  
J. Aidan Carney
Keyword(s):  
Cardiac Myxoma ◽  
Carney Complex ◽  
Ocular Signs
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