Background: Gene fusions are known in many cancers as driver or passenger mutations. They play an important role in both the etiology and pathogenesis of cancer and are considered as potential diagnostic and prognostic markers and possible therapeutic targets. The spectrum and prevalence of gene fusions in thyroid cancer ranges from single cases up to 80%, depending on the specific type of cancer. During last three years, massive parallel sequencing technologies have revealed new fusions and allowed detailed characteristics of fusions in different types of thyroid cancer.
Summary: This article reviews all known fusions and their prevalence in papillary, poorly differentiated and anaplastic, follicular, and medullary carcinomas. The mechanisms of fusion formation are described. In addition, the mechanisms of oncogenic transformation, such as altered gene expression, forced oligomerization, and subcellular localization, are given.
Conclusion: The prognostic value and perspectives of the utilization of gene fusions as therapeutic targets are discussed.
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http://dx.doi.org/10.1089/thy.2017.0318 | DOI Listing |
Nat Commun
January 2025
State Key Laboratory of Bioactive Substance and Function of Natural Medicines, NHC Key Laboratory of Biotechnology of Antibiotics, Institute of Medicinal Biotechnology, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Acute myeloid leukemia (AML) featuring retinoic acid receptor-gamma (RARG) rearrangements exhibits morphological features resembling those of acute promyelocytic leukemia but is associated with drug resistance and poor clinical outcomes. However, the mechanisms underlying the role of RARG fusions in leukemogenesis remain elusive. Here, we show that RARG fusions disrupt myeloid differentiation and promote proliferation and self-renewal of hematopoietic stem and progenitor cells (HSPCs) by upregulating BCL2 and ATF3.
View Article and Find Full Text PDFNat Commun
January 2025
National Clinical Research Center for Hematologic Diseases, Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou, 215006, China.
Acute myeloid leukemia (AML) with retinoic acid receptor gamma (RARG) fusions, which exhibits clinical features resembling acute promyelocytic leukemia (APL), has been identified as a new subtype with poor clinical outcomes. The underlying mechanism of RARG-fusion leukemia remains poorly understood, and needs to be explored urgently to instruct developing effective therapeutic strategies. Here, using the most prevalent RARG fusion, CPSF6-RARG (CR), as a representative, we reveal that the CR fusion, enhances the expansion of myeloid progenitors, impairs their maturation and synergizes with RAS mutations to drive more aggressive myeloid malignancies.
View Article and Find Full Text PDFOrthop Traumatol Surg Res
January 2025
Ankara University Medical Faculty, İbni Sina Hospital, Department of Orthopedics and Traumatology, Talatpasa Boulevard no:82, 06630 Ankara, Turkey.
Background: Synovial sarcoma (SS) is classified as an aggressive high-grade soft tissue sarcoma that predominantly affects the extremities. Despite its prevalence in the extremities (up to 80%), diagnostic and treatment challenges persist. This study aims to address these challenges by providing a comprehensive analysis of SS in extremities, focusing on diagnostic accuracy and treatment outcomes.
View Article and Find Full Text PDFNeurology
January 2025
The Dubowitz Neuromuscular Centre, Developmental Neurosciences Department, University College London, Great Ormond Street Institute of Child Health, United Kingdom.
Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.
View Article and Find Full Text PDFHead Neck Pathol
January 2025
Department of Pathology, University Medical Center Utrecht, Utrecht, 3508 GA, The Netherlands.
Purpose: The NAB2::STAT6 fusion is predominantly associated with solitary fibrous tumors (SFTs) and is utilized in diagnosing SFTs through nuclear STAT6 protein overexpression. Recent studies expanded the phenotypic spectrum of NAB2::STAT6 rearranged neoplasms, including adamantinoma-like and teratocarcinosarcoma-like phenotypes. We report a case of a NAB2::STAT6 rearranged epithelial tumor exhibiting sebaceous differentiation in the parotid gland.
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