Related Experiment Video
Updated: Feb 13, 2026

Minimal Invasive Resection of Large Retrosternal Thyroid Goiter
Published on: September 20, 2024
Multinodular Goiter Progression Toward Malignancy in a Case of DICER1 Syndrome: Histologic and Molecular Alterations
Irene Gullo1,2,3,4, Rui Batista3,4, Pedro Rodrigues-Pereira1
1Department of Pathology Pediatric Department, Centro Hospitalar São João, Porto, Portugal.
Objectives:
Multinodular goiter (MNG) and well-differentiated thyroid carcinoma (WDTC) are emerging phenotypes of DICER1 syndrome.
Methods:
Histologic and molecular findings of botryoid-type embryonal rhabdomyosarcoma (bERMS) and thyroid nodules from a 12-year-old DICER1 mutation carrier (p.Arg1060Ilefs*7) were investigated, providing interesting clues for understanding thyroid carcinogenesis.
Results:
The patient had bERMS at age 7 years. The thyroid was enlarged and multinodular (61 g). Histologically, some nodules were classified as adenomatous and others as tumors with "intermediate" nuclei. One displayed vascular invasion and was classified as WDTC not otherwise specified (NOS). Somatic DICER1 mutations were identified in bERMS, two tumors with "intermediate" nuclei and WDTC. No somatic DICER1 mutations were found in adenomatous nodules. No molecular alterations were detected in BRAF600, NRAS61, HRAS12/61, KRAS12/61, TERT promoter, RET/PTC1, RET/PTC3, and PAX8/PPARγ.
Conclusions:
The findings obtained from this single case support the assumption that DICER1 syndrome-related WDTC NOS may develop on a background of MNG, via a stepwise process, involving DICER1 somatic mutations and additional molecular events, distinct from the classic pathways of papillary/follicular carcinoma.
Related Concept Videos
Alterations in Respiration II
In Biot's breathing, the respiratory rate and depth are irregular, alternating between periods of deep gasping and apnea. Common causes...
Altered States of Awareness
The ingestion of substances like stimulants or hallucinogens leads to chemical alterations in the brain...
Stomach Histology
Liver Histology
Hepatocytes perform a variety of essential functions. They secrete...
Histology of the Large Intestine
The innermost mucosa layer comprises simple columnar epithelium, lamina propria, and muscularis mucosae. This layer is primarily populated with absorptive cells, tasked with water absorption, and goblet cells, responsible for secreting mucus to...
Histology of the Uterus
The endometrium is the...

