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Carney complex: a curious case of a rare cancer syndrome caused by a novel pathogenic mutation in the PRKAR1A gene
  1. Nisha Gupta1,
  2. Thomas Kitzler2,
  3. Steffen Albrecht3 and
  4. Vincent Larouche4
  1. 1Department of Internal Medicine, McGill University Health Centre, Montreal, Québec, Canada
  2. 2Department of Medicine — Division of Medical Genetics, McGill University Health Centre, Montreal, Québec, Canada
  3. 3Department of Neuro-Pathology, Montreal Neurological Hospital, Montreal, Québec, Canada
  4. 4Division of Endocrinology and Metabolism, Jewish General Hospital, McGill University, Montreal, Québec, Canada
  1. Correspondence to Dr Vincent Larouche; vincent.larouche{at}mcgill.ca

Abstract

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.

  • endocrinology
  • genetics
  • genetic screening / counselling

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Footnotes

  • Presented at NG presented an abstract of this case report at the Canadian Society of Endocrinology & Metabolism Virtual Professional Conference in October 2020.

  • Contributors NG: planning, design and writing of the manuscript with the assistance VL. VL: leading initial patient care and management, conception and planning of project including editing of final manuscript, acquisition of data and direct patient care. TK: direct patient care and editing of draft. SA: acquisition of data and editing of draft.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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