DICER1 mutation and pituitary prolactinoma

Area of Science:

• Endocrinology
• Genetics
• Oncology

Background:

• Germline DICER1 mutations are associated with various endocrine tumors, including thyroid disease.
• DICER1 is crucial for small non-coding RNA processing and gene expression regulation, functioning as a tumor suppressor.
• While DICER1 loss is linked to multiple cancers, functional pituitary adenomas have not been previously reported in association with these mutations.

Purpose of the Study:

• To report a rare case of a young woman with a germline DICER1 mutation who developed a pituitary microprolactinoma.
• To investigate the potential association between DICER1 mutations and the development of functional pituitary adenomas.
• To emphasize the importance of considering pituitary surveillance in the endocrine follow-up of individuals with germline DICER1 mutations.

Main Methods:

• Case report of a young woman identified with a germline DICER1 mutation during family screening.
• Clinical investigation initiated due to amenorrhea, including Magnetic Resonance (MR) imaging of the pituitary.
• Biochemical assessment for prolactin levels and subsequent treatment with cabergoline.

Main Results:

• The patient presented with amenorrhea and was diagnosed with a 6 mm pituitary microadenoma and elevated prolactin levels.
• Low-dose cabergoline effectively suppressed prolactin and restored menstrual cycles.
• This case represents a potential new manifestation of DICER1-related tumorigenesis, specifically a functional pituitary adenoma.

Conclusions:

• Germline DICER1 mutations can be associated with a broader spectrum of endocrine tumors than previously recognized, including functional pituitary adenomas.
• The occurrence of microprolactinoma in an individual with a germline DICER1 mutation suggests a possible link requiring further investigation.
• Endocrine screening protocols for patients with DICER1 mutations should incorporate evaluation for pituitary disease to ensure comprehensive patient care and early detection.