Integrative diagnostic approach in a rare case of primary thyroid leiomyosarcoma with distant metastasis: a case report and literature review

When TLS initially presents with benign-appearing ultrasound and FNA findings, misdiagnosis may easily occur. This case highlights the importance of early integration of histopathological and molecular evaluation for progressive thyroid lesions. The co-occurrence of <i>NF1</i> and <i>BCORL1</i> mutations, along with <i>TP53</i> and <i>TERT</i> promoter alterations, may underlie the tumor's aggressive biological behavior and supports the incorporation of molecular subtyping strategies in TLS management.

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Publication Details

Journal
Gland Surgery
Published
2025-10-01
DOI
https://doi.org/10.21037/gs-2025-235
Primary Topic
Thyroid Cancer Diagnosis and Treatment
Type
article
Field-Weighted Citation Impact
0.00
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article

Integrative diagnostic approach in a rare case of primary thyroid leiomyosarcoma with distant metastasis: a case report and literature review

Baibei Li, Zhuoting Chen, Jiafeng Li, Bin Wu et al.
Gland Surgery
Thyroid Cancer Diagnosis and Treatment
article

Integrative diagnostic approach in a rare case of primary thyroid leiomyosarcoma with distant metastasis: a case report and literature review

Baibei Li, Zhuoting Chen, Jiafeng Li, Bin Wu, Xiongsheng Xiao, Muge Liu
article en

Abstract

When TLS initially presents with benign-appearing ultrasound and FNA findings, misdiagnosis may easily occur. This case highlights the importance of early integration of histopathological and molecular evaluation for progressive thyroid lesions. The co-occurrence of <i>NF1</i> and <i>BCORL1</i> mutations, along with <i>TP53</i> and <i>TERT</i> promoter alterations, may underlie the tumor's aggressive biological behavior and supports the incorporation of molecular subtyping strategies in TLS management.

Gland SurgeryVol. 14(10)
Guangdong Medical College (CN), Affiliated Hospital of Guangdong Medical College Hospital (CN)
Openalex Percentile: Top 57%
Thyroid Cancer Diagnosis and Treatment
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Integrative diagnostic approach in a rare case of primary thyroid leiomyosarcoma with distant metastasis: a case report and literature review — Baibei Li, Zhuoting Chen, et al. · Gland Surgery (2025) | TGRS Research Map | TGRS