Genomic insights into Cushing syndrome.

Area of Science:

• Endocrinology
• Genomics
• Oncology

Background:

• Cushing syndrome results from endogenous causes or exogenous glucocorticoid excess.
• Tumorigenesis in Cushing syndrome involves complex genetic and epigenetic mechanisms.
• Understanding these mechanisms is crucial for diagnosis, prognosis, and treatment.

Purpose of the Study:

• To review recent genomic findings in tumors causing Cushing syndrome.
• To explore the potential of genomics in identifying markers for glucocorticoid excess.
• To highlight future research directions in the genomics of endocrine tumors.

Main Methods:

• Genomic analysis of tumors associated with endogenous Cushing syndrome.
• Integrated genomic studies of adrenal carcinomas.
• Exploration of genomics in patients exposed to glucocorticoid excess.

Main Results:

• Identification of novel genes (ZNRF3, PRKACA, ARMC5, USP8) implicated in various Cushing's tumors.
• Discovery of distinct molecular subclasses in adrenal carcinomas with prognostic implications.
• Emergence of new prognostic markers and potential blood-based markers for glucocorticoid excess.

Conclusions:

• Genomic studies have significantly advanced our understanding of Cushing syndrome tumorigenesis.
• New molecular insights offer potential for improved patient care and risk stratification.
• Further research is needed, particularly in epigenomics and identifying markers for mild glucocorticoid excess.