Papillary thyroid carcinoma and multiple endocrine neoplasia type 2

Area of Science:

• Endocrinology
• Oncology
• Genetics

Background:

• Papillary thyroid carcinoma (PTC) is an uncommon finding in patients with Multiple Endocrine Neoplasia type 2 (MEN 2).
• PTC occurring in MEN 2 without concurrent C-cell pathology is particularly rare.

Purpose of the Study:

• To investigate the occurrence and genetic basis of PTC in MEN 2 patients.
• To explore the association between PTC, C-cell pathology, and specific RET proto-oncogene mutations in MEN 2.

Main Methods:

• Retrospective analysis of 135 patients diagnosed with MEN 2.
• Genetic analysis for RET proto-oncogene mutations, specifically focusing on the V804M variant.
• Histopathological examination of thyroid tissue to identify C-cell pathology and PTC.

Main Results:

• Two cases of PTC were identified among the 135 patients.
• Neither of the PTC cases exhibited C-cell pathology.
• Both PTC cases were found to be positive for the V804M mutation in the RET proto-oncogene.

Conclusions:

• This study highlights the rarity of PTC in MEN 2, especially when C-cell pathology is absent.
• The findings suggest a potential correlation between the V804M RET mutation and PTC development in MEN 2.
• Further research is warranted to elucidate the genetic and histological relationships in PTC within the MEN 2 spectrum and its potential as an isolated manifestation.