Pediatric Macrocorticotropinoma: Do They Differ from Microcorticotropinoma?

Area of Science:

• Pediatric Endocrinology
• Neuroendocrinology
• Oncology

Background:

• Cushing's disease (CD) in pediatric patients is rare, especially when caused by macrocorticotropinoma (MC).
• Limited data exists on the specific characteristics and outcomes of pediatric CD due to MC versus microcorticotropinoma (mc).

Purpose of the Study:

• To delineate the clinical, biochemical, imaging, management, and genetic profiles of pediatric CD patients with MC.
• To compare these characteristics with those of pediatric CD patients with mc.

Main Methods:

• Retrospective analysis of 32 pediatric patients with CD and MC (≥10 mm tumor) and 65 with mc (<10 mm tumor).
• Data collected included clinical presentation, biochemical markers, imaging findings, treatment strategies, and outcomes.

Main Results:

• Macrocorticotropinoma cohort showed higher BMI-SDS, more neuro-ophthalmic symptoms, and short stature, but less livid striae and hypokalemia than the microcorticotropinoma cohort.
• Surgical and radiotherapy remission rates were comparable, but time to remission after radiotherapy was longer for MC.
• Germline variants were rare (4%) in pediatric MC.

Conclusions:

• Pediatric MC in Cushing's disease is associated with specific clinical features including mass effect symptoms, short stature, higher BMI-SDS, and distinct biochemical profiles.
• Treatment efficacy for both surgery and radiotherapy is similar between MC and mc, with a notable exception of prolonged remission time post-radiotherapy for MC.
• Genetic predisposition via germline variants is infrequent in pediatric MC.