What is the clinical evidence from this study?

Study design: Observational. Population: Carney complex (n=353). Intervention: PRKAR1A mutation vs. No PRKAR1A mutation. Primary outcome: Clinical phenotype manifestations (pigmented skin lesions, myxomas, and tumors).

What question did this study set out to answer?

This research aims to explore the connection between PRKAR1A gene mutations and clinical features in patients with Carney complex.

March 18, 2009The Journal of Clinical Endocrinology & MetabolismOpen Access

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

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Key result

Among patients with Carney complex, those with a PRKAR1A mutation were more likely to have pigmented skin lesions, myxomas, and thyroid and gonadal tumors, and presented earlier with these tumors.

Key Points

This research aims to explore the connection between PRKAR1A gene mutations and clinical features in patients with Carney complex.
Analyzed data from a transatlantic consortium including 353 patients with PRKAR1A mutations or diagnosed with CNC.
Examined 80 different genotypes and assessed the presence of various tumors and other clinical manifestations.
258 patients (73%) had 80 PRKAR1A mutations, with 82% being nonexpressed mutations resulting in no detectable protein.
PRKAR1A mutations linked to increased chances of developing pigmented skin lesions, myxomas, and specific tumors earlier.
Females showed a higher frequency of primary pigmented nodular adrenocortical disease, indicating a gender preference.

Study Design

Type

Observational (n=353)

Multicenter

Yes

Structured PICO

Population

353 patients (62.6% female, mean age 34 years) carrying a germline PRKAR1A mutation or diagnosed with Carney complex or primary pigmented nodular adrenocortical disease.

Exposure

Genotype analysis for PRKAR1A mutations

Outcome

Genotype-phenotype correlation (clinical manifestations including pigmented skin lesions, myxomas, and endocrine tumors)

Carney complex exhibits significant genetic and clinical heterogeneity, with specific PRKAR1A mutations providing some genotype-phenotype correlation, particularly regarding the risk of cardiac myxomas and endocrine tumors.

Discussion

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Implication

PRKAR1A status may refine tumor surveillance in Carney complex; extends genotype-phenotype correlations but remains hypothesis-generating.

Cite This Study

Bertherat et al. (2009) conducted an observational in Carney complex (n=353). PRKAR1A mutation vs. No PRKAR1A mutation was evaluated on Clinical phenotype manifestations (pigmented skin lesions, myxomas, and tumors). Among patients with Carney complex, those with a PRKAR1A mutation were more likely to have pigmented skin lesions, myxomas, and thyroid and gonadal tumors, and presented earlier with these tumors.

synapsesocial.com/papers/6a29c0411736b4dade047d15 https://doi.org/10.1210/jc.2008-2333

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Implication

PRKAR1A status may refine tumor surveillance in Carney complex; extends genotype-phenotype correlations but remains hypothesis-generating.

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

Key Points

Study Design

Structured PICO

Discussion

Implication

Cite This Study

Mutations in Regulatory Subunit Type 1A of Cyclic Adenosine 5′-Monophosphate-Dependent Protein Kinase (PRKAR1A): Phenotype Analysis in 353 Patients and 80 Different Genotypes

Key Points

Study Design

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider