A novel <i>PRKAR1A</i> mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations

Gennari, Monia; Stratakis, Constantine A.; Hovarth, Anelia; Pirazzoli, Piero; Cicognani, Alessandro

doi:10.1111/j.1365-2265.2008.03286.x

Cited by 22 publications

(13 citation statements)

References 22 publications

(30 reference statements)

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“…Another finding specific to this subgroup of patients with CNC was a higher frequency of liver manifestations than expected compared to the reported literature [10]. Liver involvement in CNC has been reported previously, including a patient of the current cohort [11].…”

Section: Discussioncontrasting

confidence: 50%

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Failure to Thrive in the Context of Carney Complex

et al. 2017

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Background/Aims: Carney complex (CNC) is a rare syndrome associated with multiple tumors and several other unique manifestations. We describe the clinical, genetic, and laboratory findings in a cohort of patients with CNC and failure to thrive (FTT). Methods: A retrospective case series of pediatric patients with CNC presenting with FTT. Results: We describe a patient with infantile Cushing syndrome (CS) who presented with severe FTT and liver disease; the patient was subsequently diagnosed with CNC. This led to the realization that at least 10 other patients with CNC and FTT have been investigated in the last 22 years at the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Four of those had primary pigmented nodular adrenocortical disease (PPNAD), 2 had cardiac myxomas, and 3 had liver disease. Conclusion: Pediatric patients with CNC may present with FTT whose primary cause is variable and includes CS due to PPNAD, hepatic involvement, and other manifestations of CNC. FTT due to liver disease and/or other causes is a unique new presentation of this rare syndrome with which clinicians need to be familiar.

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Section: Discussioncontrasting

confidence: 50%

“…In addition, another patient with CNC had neonatal hepatitis and later developed both hepatocellular adenoma and pancreatic cyst by the age of 19 years. This patient was found to harbor a splice donor site PRKAR1A mutation (c.502 +1G > A) [10]. Animal models of CNC have been reported to develop liver lesions.…”

Section: Discussionmentioning

confidence: 99%

Failure to Thrive in the Context of Carney Complex

et al. 2017

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“…Hepatocellular adenoma was first reported in a 19-year-old female patient 55 . Uterine myxoid tumors were also reported in a single patient 56 .…”

Section: Clinical Featuresmentioning

confidence: 99%

Carney complex: an update

Correa¹,

Salpea²,

Stratakis³

2015

European Journal of Endocrinology

330

348

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Carney Complex (CNC) is a rare autosomal dominant syndrome, characterized by pigmented lesions of the skin and mucosa, cardiac, cutaneous and other myxomas, and multiple endocrine tumors. The disease is caused by inactivating mutations or large deletions of the PRKAR1A gene located at 17q22–24 coding for the regulatory subunit type I alpha of protein kinase A (PKA) gene. Most recently, components of the complex have been associated with defects of other PKA subunits, such as the catalytic subunits PRKACA (adrenal hyperplasia) and PRKACB (pigmented spots, myxomas, pituitary adenomas). In this report, we review CNC, its clinical features, diagnosis, treatment, and molecular etiology including PRKAR1A mutations and the newest on PRKACA and PRKACB defects especially as they pertain to adrenal tumors and Cushing’s syndrome.

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“…Thyroid nodules can also be observed frequently, but thyroid cancer is rare [149]. Rarely patients also develop ovarian cancer [163], liver cancer [164] and pancreatic neoplasms [165]. …”

Section: Other Cnc-associated Tumoursmentioning

confidence: 99%

MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics

Schernthaner-Reiter

Trivellin

Stratakis³

2015

Neuroendocrinology

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Pituitary adenomas are a common feature of a subset of endocrine neoplasia syndromes, which have otherwise highly variable disease manifestations. We provide here a review of the clinical features and human molecular genetics of multiple endocrine neoplasia (MEN) type 1 and 4 (MEN1 and MEN4, respectively) and Carney complex (CNC). MEN1, MEN4, and CNC are hereditary autosomal dominant syndromes that can present with pituitary adenomas. MEN1 is caused by inactivating mutations in the MEN1 gene, whose product menin is involved in multiple intracellular pathways contributing to transcriptional control and cell proliferation. MEN1 clinical features include primary hyperparathyroidism, pancreatic neuroendocrine tumours and prolactinomas as well as other pituitary adenomas. A subset of patients with pituitary adenomas and other MEN1 features have mutations in the CDKN1B gene; their disease has been called MEN4. Inactivating mutations in the type 1α regulatory subunit of protein kinase A (PKA; the PRKAR1A gene), that lead to dysregulation and activation of the PKA pathway, are the main genetic cause of CNC, which is clinically characterised by primary pigmented nodular adrenocortical disease, spotty skin pigmentation (lentigines), cardiac and other myxomas and acromegaly due to somatotropinomas or somatotrope hyperplasia.

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A novel PRKAR1A mutation associated with hepatocellular carcinoma in a young patient and a variable Carney complex phenotype in affected subjects in older generations

Cited by 22 publications

References 22 publications

Failure to Thrive in the Context of Carney Complex

Failure to Thrive in the Context of Carney Complex

Carney complex: an update

MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics

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