A case of complete Carney's syndrome

Area of Science:

• Oncology
• Endocrinology
• Pathology

Background:

• Carney's triad is a rare genetic disorder characterized by the coexistence of gastric leiomyoblastoma, extra-adrenal paraganglioma, and pulmonary chondroma.
• First described by Carney et al. in 1977, this triad typically presents in young women, often with multiple tumors.
• While gastric leiomyoblastoma is the most common component, variations in tumor types, such as leiomyosarcoma, have been reported.

Observation:

• This report details a rare case of a patient exhibiting a complete form of Carney's triad.
• The patient presented with gastric leiomyosarcoma, multiple pulmonary chondromata, and a paraganglioma.
• Diagnostic imaging utilized Iodine-123 meta-iodobenzylguanidine (I-123 MIBG) scintigraphy for the identification of the paraganglioma.

Findings:

• The case confirms the existence of Carney's triad with a gastric leiomyosarcoma, a malignant variant of the typical leiomyoblastoma.
• The presence of multiple pulmonary chondromata aligns with the classical description of the triad.
• I-123 MIBG scintigraphy proved effective in localizing the paraganglioma, aiding in diagnosis and management planning.

Implications:

• This case expands the understanding of the phenotypic variability within Carney's triad, particularly the occurrence of leiomyosarcoma.
• It highlights the importance of comprehensive diagnostic workup for patients presenting with components of the triad.
• The successful use of I-123 MIBG underscores its utility in the diagnostic armamentarium for paraganglioma detection in this rare syndrome.