Somatotrophinoma and primary hyperparathyroidism: a novel MEN1-like syndrome?

Researchers have reported what may be the first known case of a change (variant) in the CHEK2 gene causing a combination of conditions that closely resemble Multiple Endocrine Neoplasia type 1 (MEN1). They described a 38-year-old woman with acromegaly (caused by a growth hormone-producing pituitary tumour), primary hyperparathyroidism (caused by two parathyroid tumours), and a harmless skin growth called a collagenoma. Although testing found no changes in the genes usually linked to MEN1, genetic analysis identified a rare CHEK2 variant. After surgery and other treatments, her symptoms improved significantly. The findings suggest that CHEK2 may play a role in some people who have MEN1-like features but test negative for the more common MEN1-related genetic changes. The authors stress that more research is needed, but this case expands our understanding of the possible health conditions associated with CHEK2 variants and may help guide future genetic testing and monitoring.

Durairaj Arjunan, Mohammad Hayat Bhat, Ashutosh Rai, Vaishali Kaur, Sayka Barry, Md Ejaz Alam, Mohammad Salem Baba, Ajay Gulati, Debajyoti Chatterjee, Manzoor Ahmad Latoo, Márta Korbonits, Ashley B Grossman, Pinaki Dutta; CHEK2 germline gene variant in a patient with a somatotrophinoma and primary hyperparathyroidism: a novel MEN1-like syndrome?. Endocr Oncol 1 January 2026; 6 (1): e250100. https://doi.org/10.1530/EO-25-0100
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