Sellar abnormalities in female first-degree relatives.

Area of Science:

• Neuroscience
• Oncology
• Genetics

Background:

• Sellar and suprasellar lesions are typically pituitary-related, with non-pituitary origins being uncommon.
• Accurate diagnosis and management of intracranial diseases rely on integrating imaging, tumor markers, and histopathology.

Observation:

• A mother and her two daughters presented with sellar/suprasellar lesions, a rare familial occurrence.
• Diagnoses varied: Rathke's cleft cyst (RCC) in the mother, presumptive germinoma in one daughter, and an indeterminate lesion in the other daughter.
• The indeterminate lesion showed mixed features concerning for pituitary macroadenoma and germ cell tumors, with biopsy revealing benign cyst content.

Findings:

• Histopathological confirmation of Rathke's cleft cyst in the mother.
• One daughter treated for suspected germinoma based on imaging and tumor markers.
• The second daughter's lesion was diagnosed as a cyst despite initial concerns for malignancy, underscoring diagnostic complexities.

Implications:

• This familial cluster suggests a potential, yet unconfirmed, underlying genetic or pathological mechanism for sellar/suprasellar lesions.
• The cases emphasize the critical role of multimodal diagnostic approaches in differentiating benign cysts from neoplasms in the sellar region.
• Further investigation is warranted to elucidate the etiology of these rare familial intracranial abnormalities.