Mirrored Metastatic Neuroendocrine Tumor in a Mother-Daughter Duo With Mutations in the MEN1 Gene.
case_report · Level V
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- Record sourced from PubMed, PMID 40016943.
- Also identified by DOI 10.1097/RLU.0000000000005732.
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Abstract
Multiple endocrine neoplasia (MEN) 1 syndrome may present with either of any or all neuroendocrine tumors (NETs), parathyroid and pituitary adenoma. There is a paucity of data on the intronic and exonic mutations in the MEN1 gene associated with the MEN1 syndrome. We present an interesting study of a mother-daughter duo of MEN1 who had a similar lesions distribution of metastatic NET and underwent genetic analysis to reveal a rare mutation in the MEN1 gene and both first-degree relatives presented with metastatic NET without any other syndromic manifestation of MEN1 syndrome. Both patients received peptide receptor radionuclide therapy.
Medical subject headings
- Multiple Endocrine Neoplasia Type 1
- Mutation
- Neuroendocrine Tumors
- Proto-Oncogene Proteins