The protean role of Val804Met RET mutation in thyroid neoplasms: An example of a "MEN2C" syndrome?
Genetics
Pathology
RET gene
Thyroid cancer
Thyroid carcinoma
Journal
Pathology, research and practice
ISSN: 1618-0631
Titre abrégé: Pathol Res Pract
Pays: Germany
ID NLM: 7806109
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
29
11
2022
accepted:
23
02
2023
medline:
11
4
2023
pubmed:
9
3
2023
entrez:
8
3
2023
Statut:
ppublish
Résumé
Val804Met RET is one of the most common genetic alterations in Multiple Endocrine Neoplasia 2 and is considered to confer only a moderate risk for familial medullary thyroid carcinoma (MTC). The associated phenotype can however be much more complex in some cases. A clinical, genetic, and pathological analysis was conducted on a family cluster of thyroid neoplasms associated with Val804Met RET mutation. All the kindreds who are carriers of the mutated RET received total thyroidectomy + /- VI level dissection. The proband presented with a pT1bN0 MTC, her 29-yo brother showed a concomitant papillary thyroid carcinoma (PTC) and MTC, their father had a pT1a PTC plus a follicular adenoma, while the uncle of the proband showed C-cell hyperplasia. None had clinical or biochemical evidence of parathyroid disorders or pheochromocytoma. In the presence of Val804Met RET several types of thyroid premalignant and malignant should be screened for, and without limiting to MTC.
Sections du résumé
BACKGROUND
BACKGROUND
Val804Met RET is one of the most common genetic alterations in Multiple Endocrine Neoplasia 2 and is considered to confer only a moderate risk for familial medullary thyroid carcinoma (MTC). The associated phenotype can however be much more complex in some cases.
METHODS
METHODS
A clinical, genetic, and pathological analysis was conducted on a family cluster of thyroid neoplasms associated with Val804Met RET mutation.
RESULTS
RESULTS
All the kindreds who are carriers of the mutated RET received total thyroidectomy + /- VI level dissection. The proband presented with a pT1bN0 MTC, her 29-yo brother showed a concomitant papillary thyroid carcinoma (PTC) and MTC, their father had a pT1a PTC plus a follicular adenoma, while the uncle of the proband showed C-cell hyperplasia. None had clinical or biochemical evidence of parathyroid disorders or pheochromocytoma.
CONCLUSIONS
CONCLUSIONS
In the presence of Val804Met RET several types of thyroid premalignant and malignant should be screened for, and without limiting to MTC.
Identifiants
pubmed: 36889173
pii: S0344-0338(23)00088-2
doi: 10.1016/j.prp.2023.154388
pii:
doi:
Substances chimiques
Proto-Oncogene Proteins c-ret
EC 2.7.10.1
RET protein, human
EC 2.7.10.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
154388Informations de copyright
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