Related Experiment Video
Updated: Sep 17, 2025
Spontaneous Murine Model of Anaplastic Thyroid Cancer
Published on: February 3, 2023
ALK-rearranged papillary thyroid carcinoma with a germline MEN1 mutation
Chao Li1, Hongjuan Zhang1, Yingmei Wang1
1Department of Pathology, Xijing Hospital and School of Basic Medicine, Fourth Military Medical University, Xi'an, China.
Background:
Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer. The 5th edition of the World Health Organization (WHO) Classification of Thyroid Tumors divides PTC into 13 distinct morphological subtypes based on its morphological characteristics. According to molecular features, thyroid cancer is classified into RAS-like and BRAF-like tumors.
Case Presentation:
Here, we present a case of ALK-rearranged papillary thyroid carcinoma (ALK-PTC) with a germline mutation in the MEN1 gene. Next-generation sequencing (NGS) detected an EML4-ALK fusion gene and a germline MEN1 mutation in this case, accompanied by a rare intragenic inversion of the ALK gene.
Conclusion:
Here we report the first case in the world of PTC with EML4-ALK fusion, accompanied by intragenic inversion of the ALK gene and germline mutation of the MEN1 gene.
Related Concept Videos
01:20The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
03:18Non-LTR Retrotransposons
01:12Loss of Tumor Suppressor Gene Functions
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...