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Updated: Jul 19, 2026

Genetic Profiling and Genome-Scale Dropout Screening to Identify Therapeutic Targets in Mouse Models of Malignant Peripheral Nerve Sheath Tumor
Published on: August 25, 2023
The multiple endocrine neoplasia syndromes
Vipul T Lakhani1, Y Nancy You, Samuel A Wells
1Department of Medicine, Division of Endocrinology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.
Genetic mutations in the menin gene cause Multiple Endocrine Neoplasia type 1 (MEN1), while REarranged during Transfection (RET) gene mutations cause MEN2 syndromes. Identifying these mutations allows for early intervention and targeted therapies.
Area of Science:
- Endocrinology
- Genetics
- Oncology
Background:
- Multiple endocrine neoplasia (MEN) types 1 and 2 are inherited autosomal dominant disorders.
- Germline mutations in the menin gene cause MEN1.
- Germline mutations in the REarranged during Transfection (RET) gene cause MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC).
Purpose of the Study:
- To review the genetic basis of MEN1 and MEN2 syndromes.
- To highlight the correlation between RET codon mutations and disease phenotype/severity.
- To discuss the implications for early diagnosis, prophylactic treatment, and novel therapeutic strategies.
Main Methods:
- Review of germline mutations in menin and RET genes.
- Analysis of genotype-phenotype correlations in MEN2 syndromes.
- Discussion of current and emerging therapeutic approaches for hereditary MTC.
Main Results:
- MEN1 is primarily caused by menin gene mutations.
- Specific RET gene mutations define MEN2 subtypes (MEN2A, MEN2B, FMTC) and their clinical severity.
- Prophylactic thyroidectomy in genetically identified children prevents medullary thyroid carcinoma (MTC).
Conclusions:
- Genetic identification of MEN syndromes is crucial for patient management.
- Targeted therapies based on RET signal transduction pathways offer new hope for advanced MTC.
- Understanding the genetic landscape of MEN disorders enables personalized medicine approaches.
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