TACC1

Last update 23 Jan 2025

Basic Info

Synonyms

Gastric cancer antigen Ga55, KIAA1103, TACC1

+ [3]

Introduction

Involved in transcription regulation induced by nuclear receptors, including in T3 thyroid hormone and all-trans retinoic acid pathways (PubMed:20078863). Might promote the nuclear localization of the receptors (PubMed:20078863). Likely involved in the processes that promote cell division prior to the formation of differentiated tissues.

100 Clinical Results associated with TACC1

100 Translational Medicine associated with TACC1

0 Patents (Medical) associated with TACC1

Literatures (Medical) associated with TACC1

07 Oct 2024·Journal of Neurosurgery: Case Lessons

Recurrent symptomatic intracranial hemorrhage in high-grade astrocytoma with piloid features: illustrative case

Article

Author: Saito, Ryuta ; Hasegawa, Toshinori ; Hirato, Junko ; Ohka, Fumiharu ; Ichimura, Koichi ; Kageyama, Akinori ; Oishi, Hiroyuki ; Kato, Takenori ; Sasaki, Shoh ; Naito, Takehiro ; Kuwabara, Kyoko ; Mizuno, Akihiro ; Yoshioka, Takako ; Niwa, Hirotaka

BACKGROUNDHigh-grade astrocytoma with piloid features (HGAP) is a novel condition introduced in the 2021 World Health Organization classification. Given that it has been recently classified, reports clarifying its clinical features or diagnostic criteria are lacking, especially in cases of atypical presentation. Herein, the authors present a rare case of HGAP with repeated symptomatic hemorrhages.OBSERVATIONSA woman in her 20s presented with an acute headache and vertigo. Computed tomography and magnetic resonance imaging revealed a 2.5 × 2.8 × 2.3–cm hemorrhagic cerebellar mass with calcifications. After moderate improvement of her symptoms, she developed recurrent hemorrhage, and the tumor size increased (3.0 × 3.6 × 4.0 cm) 18 days later, necessitating resection. Pathological and molecular analyses confirmed the diagnosis of HGAP with an FGFR1-TACC1 fusion, MTAP/CDKN2A/B deletion, and SETD2 rearrangement. Radiologically, the presence of calcification and cystic components and the absence of perilesional edema were atypical features of previously reported HGAP.LESSONSAlthough recurrent symptomatic intracranial hemorrhages are rare in HGAP, enhancing lesions on magnetic resonance imaging suggest the need for resection to obtain tissue for molecular diagnosis and guide adjuvant treatment strategies.

https://thejns.org/doi/10.3171/CASE24395

01 Jun 2024·JCO Precision Oncology

Midline Low-Grade Gliomas of Early Childhood: Focus on Targeted Therapies

Article

Author: Protsvetkina, Anastasia ; Samarin, Alexey ; Panferova, Agnesa ; Novichkova, Galina ; Usman, Natalia ; Zakharov, Ilya ; Voronin, Kirill ; Hwang, Eugene ; Packer, Roger J ; Zaytseva, Margarita ; Druy, Alexander ; Salnikova, Ekaterina ; Podlipaeva, Svetlana ; Karachunskiy, Alexander ; Papusha, Ludmila ; Vilesova, Irina

PURPOSE Midline low-grade gliomas (mLGGs) of early childhood have a poorer prognosis compared with tumors of other localizations and in older patients. LGGs are associated with aberrant activation of RAS-RAF-MEK pathway, and pharmacological inhibition of the pathway has therapeutic promise. The aim of this study was clinical and molecular characterization of infantile mLGGs, with emphasis on the efficacy of targeted kinase inhibition. PATIENTS AND METHODS This study enrolled 40 patients with mLGG age <3 years. The majority of the patients (30/40) received first-line chemotherapy (CT) as per International Society of Paediatric Oncology LGG 2004 guidelines. In all patients, molecular genetic investigation of tumor tissue by polymerase chain reaction and RNA sequencing was performed. The median follow-up was 3.5 years. RESULTS First-line CT failed in 24 of 30 recipients. The identified molecular profiles included KIAA1549::BRAF fusions in 26 patients, BRAF V600E in six patients, FGFR1::TACC1 fusions in two patients, and rare fusion transcripts in four patients. At disease progression, targeted therapy (TT) was initiated in 27 patients (22 patients received trametinib) on the basis of molecular findings. TT was administered for a median of 16 months, with partial response achieved in 12 of 26 (46%) patients in which response was evaluated. Severe adverse events were detected only on trametinib monotherapy: acute damage of GI or urinary mucosa complicated by hemorrhage and development of transfusion-dependent anemia in four patients and grade 3 skin toxicity in three patients. CONCLUSION mLGGs of early childhood are often aggressive tumors, resistant to CT, and frequently require alternative treatment. The majority of patients harbor druggable molecular targets and respond to molecular TT.

01 Apr 2024·Genes, Chromosomes and Cancer

FGFR1 fusions as a novel molecular driver in rhabdomyosarcoma

Article

Author: Guillemot, Delphine ; Dermawan, Josephine K. ; Antonescu, Cristina R. ; Orbach, Daniel ; Cyrta, Joanna ; Pierron, Gaelle ; Aerts, Isabelle ; de Traux De Wardin, Henry

AbstractThe wide application of RNA sequencing in clinical practice has allowed the discovery of novel fusion genes, which have contributed to a refined molecular classification of rhabdomyosarcoma (RMS). Most fusions in RMS result in aberrant transcription factors, such as PAX3/7::FOXO1 in alveolar RMS (ARMS) and fusions involving VGLL2 or NCOA2 in infantile spindle cell RMS. However, recurrent fusions driving oncogenic kinase activation have not been reported in RMS. Triggered by an index case of an unclassified RMS (overlapping features between ARMS and sclerosing RMS) with a novel FGFR1::ANK1 fusion, we reviewed our molecular files for cases harboring FGFR1‐related fusions. One additional case with an FGFR1::TACC1 fusion was identified in a tumor resembling embryonal RMS (ERMS) with anaplasia, but with no pathogenic variants in TP53 or DICER1 on germline testing. Both cases occurred in males, aged 7 and 24, and in the pelvis. The 2nd case also harbored additional alterations, including somatic TP53 and TET2 mutations. Two additional RMS cases (one unclassified, one ERMS) with FGFR1 overexpression but lacking FGFR1 fusions were identified by RNA sequencing. These two cases and the FGFR1::TACC1‐positive case clustered together with the ERMS group by RNAseq. This is the first report of RMS harboring recurrent FGFR1 fusions. However, it remains unclear if FGFR1 fusions define a novel subset of RMS or alternatively, whether this alteration can sporadically drive the pathogenesis of known RMS subtypes, such as ERMS. Additional larger series with integrated genomic and epigenetic datasets are needed for better subclassification, as the resulting oncogenic kinase activation underscores the potential for targeted therapy.

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TACC1

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