RT Journal Article SR Electronic T1 Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene JF BMJ Case Reports JO BMJ Case Reports FD BMJ Publishing Group Ltd SP e241886 DO 10.1136/bcr-2021-241886 VO 14 IS 4 A1 Nisha Gupta A1 Thomas Kitzler A1 Steffen Albrecht A1 Vincent Larouche YR 2021 UL http://casereports.bmj.com/content/14/4/e241886.abstract AB A 39-year-old woman was referred to the cancer genetics outpatient clinic for a clinical diagnosis of Carney complex (CNC) in her deceased brother. The patient had some characteristic clinical features such as periorbital lentigines and coarse facial features, suggestive of CNC; however, she did not meet major diagnostic criteria for CNC. Previous extensive investigations revealed a mild insulin-like growth factor 1 elevation, a stable left adrenal gland adenoma and a slightly enlarged pituitary gland. Single gene sequencing confirmed a novel pathogenic mutation in the PRKAR1A gene. This case, to our knowledge, is the first report of this mutation identified in a family of French-Canadian origin. This report broadens our understanding of the genotypic and phenotypic spectrum of this rare disease, while it highlights the value of a multidisciplinary approach in rare diseases, for genetic testing facilitated a timely diagnosis and enabled the initiation of early surveillance of CNC-related manifestations in our patient.