What question did this study set out to answer?

To establish the relationship between specific RET proto-oncogene germline mutations and phenotypic manifestations across multiple endocrine neoplasia type 2 (MEN 2) subtypes to guide clinical decision making.

November 20, 1996JAMA

The Relationship Between Specific RET Proto-oncogene Mutations and Disease Phenotype in Multiple Endocrine Neoplasia Type 2

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Authors

CECharis EngHuman Genome Sciences (United States)

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Implication

Correlative survey study reveals distinct RET genotype-phenotype associations in MEN 2 families, highlighting clinical utility for personalized screening and prophylaxis.

Key Points

To establish the relationship between specific RET proto-oncogene germline mutations and phenotypic manifestations across multiple endocrine neoplasia type 2 (MEN 2) subtypes to guide clinical decision making.
Conducted an international correlative survey study across 18 tertiary referral centers worldwide.
Analyzed the position and type of germline RET proto-oncogene mutations in 477 independent MEN 2 families.
Any mutation at codon 634 showed a statistically significant association with the presence of pheochromocytoma and hyperparathyroidism, whereas a specific CGC mutation at codon 634 was not associated with familial medullary thyroid carcinoma (FMTC).
Mutations at codons 768 and 804 occurred exclusively in patients with FMTC, while the codon 918 mutation was specific to MEN 2B.
Families presenting with both MEN 2 and Hirschsprung disease carried MEN 2-specific codon mutations, identifying a subpopulation requiring surveillance for endocrine tumors.

Cite This Study

Charis Eng (1996) studied this question.

synapsesocial.com/papers/6a16bfb02fcf950e00054218 https://doi.org/10.1001/jama.1996.03540190047028

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Implication

Correlative survey study reveals distinct RET genotype-phenotype associations in MEN 2 families, highlighting clinical utility for personalized screening and prophylaxis.

The Relationship Between Specific RET Proto-oncogene Mutations and Disease Phenotype in Multiple Endocrine Neoplasia Type 2

Discussion

Member takes

Implication

Key Points

Cite This Study

The Relationship Between Specific RET Proto-oncogene Mutations and Disease Phenotype in Multiple Endocrine Neoplasia Type 2

Discussion

Member takes

Implication

Key Points

Cite This Study

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