What question did this study set out to answer?

To characterize rare homozygous cases of RET C634Y mutations in MEN2A families and compare them to heterozygous cases.

Rare cases in two Chinese MEN2A families with RET C634Y germline mutation—a homozygous female patient and heterozygous identical twins: a systematic review of literature

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Systematic review reports on rare homozygous and heterozygous MEN2A cases in twins, suggesting varied clinical progression.

To characterize rare homozygous cases of RET C634Y mutations in MEN2A families and compare them to heterozygous cases.
Identified two MEN2A families with homozygous female patient and heterozygous twin males.
Conducted a systematic review of literature to analyze homozygous cases from multiple families.
Compared clinical outcomes between homozygous and heterozygous mutation carriers regarding MTC and pheochromocytoma.
Identified 18 homozygous cases with RET C634Y mutations, predominantly involving female cases.
83.3% of the homozygous patients had medullary thyroid carcinoma, significantly higher than heterozygous cases.
Homozygous mutations led to earlier onset of MTC and higher metastasis risk, but no link to pheochromocytoma was found.

Qi et al. (2026) studied this question.

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