Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation

Reinhard E Friedrich; Martin Zenker

doi:10.21873/anticanres.16125

Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation

Standard

Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation. / Friedrich, Reinhard E; Zenker, Martin.

In: ANTICANCER RES, Vol. 42, No. 12, 12.2022, p. 6121-6125.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Friedrich, RE & Zenker, M 2022, 'Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation', ANTICANCER RES, vol. 42, no. 12, pp. 6121-6125. https://doi.org/10.21873/anticanres.16125

APA

Friedrich, R. E., & Zenker, M. (2022). Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation. ANTICANCER RES, 42(12), 6121-6125. https://doi.org/10.21873/anticanres.16125

Vancouver

Friedrich RE, Zenker M. Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation. ANTICANCER RES. 2022 Dec;42(12):6121-6125. https://doi.org/10.21873/anticanres.16125

Bibtex

@article{009211e4e8e4443786ccd1eab98172d1,

title = "Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation",

abstract = "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. Medical reports detailed previous excisions of fibroma, neurofibroma and myxoma, and a malignant tumor of the cerebellopontine angle. The resected subcutaneous tumor was a myxoma. The identification of a previously unknown frameshift mutation in the gene for protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) in the patient confirmed the diagnosis of CNC.CONCLUSION: Patients with CNC may have highly variable clinical findings. Some rare lesions in CNC are more commonly recorded in other syndromes, making early diagnosis difficult in some cases. Genetic testing greatly facilitates diagnosis.",

keywords = "Humans, Female, Carney Complex/diagnosis, Syndrome, Transcription Factors, Myxoma/diagnosis, Mutation, Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics",

author = "Friedrich, {Reinhard E} and Martin Zenker",

year = "2022",

month = dec,

doi = "10.21873/anticanres.16125",

language = "English",

volume = "42",

pages = "6121--6125",

journal = "ANTICANCER RES",

issn = "0250-7005",

publisher = "International Institute of Anticancer Research",

number = "12",

}

RIS

TY - JOUR

T1 - Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation

AU - Friedrich, Reinhard E

AU - Zenker, Martin

PY - 2022/12

Y1 - 2022/12

N2 - 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. Medical reports detailed previous excisions of fibroma, neurofibroma and myxoma, and a malignant tumor of the cerebellopontine angle. The resected subcutaneous tumor was a myxoma. The identification of a previously unknown frameshift mutation in the gene for protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) in the patient confirmed the diagnosis of CNC.CONCLUSION: Patients with CNC may have highly variable clinical findings. Some rare lesions in CNC are more commonly recorded in other syndromes, making early diagnosis difficult in some cases. Genetic testing greatly facilitates diagnosis.

AB - 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. Medical reports detailed previous excisions of fibroma, neurofibroma and myxoma, and a malignant tumor of the cerebellopontine angle. The resected subcutaneous tumor was a myxoma. The identification of a previously unknown frameshift mutation in the gene for protein kinase cAMP-dependent type I regulatory subunit alpha (PRKAR1A) in the patient confirmed the diagnosis of CNC.CONCLUSION: Patients with CNC may have highly variable clinical findings. Some rare lesions in CNC are more commonly recorded in other syndromes, making early diagnosis difficult in some cases. Genetic testing greatly facilitates diagnosis.

KW - Humans

KW - Female

KW - Carney Complex/diagnosis

KW - Syndrome

KW - Transcription Factors

KW - Myxoma/diagnosis

KW - Mutation

KW - Cyclic AMP-Dependent Protein Kinase RIalpha Subunit/genetics

U2 - 10.21873/anticanres.16125

DO - 10.21873/anticanres.16125

M3 - SCORING: Journal article

C2 - 36456122

VL - 42

SP - 6121

EP - 6125

JO - ANTICANCER RES

JF - ANTICANCER RES

SN - 0250-7005

IS - 12

ER -