Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation
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Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation. / Friedrich, Reinhard E; Zenker, Martin.
in: ANTICANCER RES, Jahrgang 42, Nr. 12, 12.2022, S. 6121-6125.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Unusual Findings in a Patient With Carney Complex due to a Novel PRKAR1A Mutation
AU - Friedrich, Reinhard E
AU - Zenker, Martin
N1 - Copyright © 2022 International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.
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 -