Atrophic changes in thyroid tumors are strong indicators of underlying DICER1 mutations: a bi-institutional genotype-phenotype correlation study

Vincenzo Condello ¹, James W Roberts ², Adam Stenman ^3,4

⁰Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden. vincenzo.condello@ki.se.

Virchows Archiv : an International Journal of Pathology +

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April 18, 2024

View abstract on PubMed

Summary

DICER1 mutations in thyroid tumors are linked to younger patients and specific histological patterns like macrofollicular growth and atrophic changes. These findings aid pathologists in triaging cases for genetic testing.

Area Of Science

Endocrinology
Oncology
Genetics

Background

DICER1 mutations are implicated in thyroid tumor development.
Previous studies suggest associations between DICER1 mutations and macrofollicular patterns, atrophic changes, and papillary structures in thyroid lesions.

Purpose Of The Study

To investigate the association between DICER1 mutations and specific histological features in a bi-institutional cohort of thyroid lesions.
To identify clinical and histological criteria for triaging thyroid lesions for DICER1 sequencing.

Main Methods

Histological re-investigation and clinical follow-up of 61 thyroid lesions (54 tumors, 7 thyroid follicular nodular disease cases).
Classification into 26 DICER1-mutated and 35 DICER1 wildtype groups.
Statistical analysis of clinical and histological data.

Main Results

DICER1-mutated lesions were significantly associated with younger age at surgery (29.2 vs. 51.3 years) and a predominant macrofollicular growth pattern (p=0.01).
A striking association was observed between DICER1 mutations and atrophic changes (p=0.0001).
Histological triaging identified DICER1 variants in 62% of tested cases, with 3 out of 12 cases showing constitutional DICER1 mutations.

Conclusions

DICER1 mutations in thyroid lesions are predominantly found in younger patients and are strongly associated with macrofollicular patterns and atrophic changes.
The presence of constitutional DICER1 mutations suggests a potential hereditary component in a subset of cases.
Histological findings can serve as valuable criteria for pathologists to triage thyroid lesions for DICER1 genetic testing.

Keywords:

DICER1 Atrophic changes Macrofollicular pattern Somatic mutation

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