Carney's triad: a 16-year follow-up

Area of Science:

• Oncology
• Genetics
• Pathology

Background:

• Carney's triad is a rare complex genetic disorder characterized by the occurrence of multiple tumors.
• It typically involves gastrointestinal stromal tumors (GISTs), paragangliomas, and pulmonary chondromas.

Observation:

• This report details a female adolescent diagnosed with GIST and paraganglioma, who subsequently developed a pulmonary chondroma, meeting the diagnostic criteria for Carney's triad.
• The patient experienced severe emotional symptoms throughout her illness.

Findings:

• The patient succumbed to metastatic disease at age 30, 16 years after initial diagnosis.
• Carney's triad exhibits variable clinical courses and prognoses, making prediction challenging.
• The psychological impact of Carney's triad can be substantial.

Implications:

• This case underscores the importance of recognizing Carney's triad for timely diagnosis and management.
• Further research is needed to understand the variable prognosis and develop targeted therapies.
• Addressing the psychological well-being of patients with rare diseases is crucial.