ArticleBMC cancer2018
Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.
Article in BMC cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- An overview of hepatitis B virus in gastric carcinogenesis: from clinical association to molecular mechanisms.Infectious agents and cancer · 2025Review
- Computed tomography features and clinicopathological characteristics of resectable esophageal sarcomatoid carcinoma: a retrospective study.Frontiers in oncology · 2025Article
- Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report.Surgical case reports · 2024Article
- Unveiling the Molecular Landscape of Pancreatic Ductal Adenocarcinoma: Insights into the Role of the COMPASS-like Complex.International journal of molecular sciences · 2024Review
- Hyperprogression of a spindle-cell squamous carcinoma of the esophagus after esophagectomy.Thoracic cancer · 2022Article
- Structure, Activity and Function of the MLL2 (KMT2B) Protein Lysine Methyltransferase.Life (Basel, Switzerland) · 2021Review
- Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.Cancer medicine · 2021Article
- Clinicopathological and Prognostic Characteristics of Esophageal Spindle Cell Squamous Cell Carcinoma: An Analysis of 43 Patients in a Single Center.Frontiers in oncology · 2021Article
- Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D.Frontiers in molecular biosciences · 2021Article
- Aberrant Activity of Histone-Lysine N-Methyltransferase 2 (KMT2) Complexes in Oncogenesis.International journal of molecular sciences · 2020Review
- Endoscopic palliative resection of a giant 26-cm esophageal tumor: A case report.World journal of clinical cases · 2020Article
- YAP1 amplification as a prognostic factor of definitive chemoradiotherapy in nonsurgical esophageal squamous cell carcinoma.Cancer medicine · 2020Article
- Acquired rare recurrentAmerican journal of cancer research · 2020Article
- Epidemiology of and prognostic factors for patients with sarcomatoid carcinoma: a large population-based study.American journal of cancer research · 2020Article
- Pathogenic and Therapeutic Role of H3K4 Family of Methylases and Demethylases in Cancers.Indian journal of clinical biochemistry : IJCB · 2019Review
- Article
- A Universal Analysis Pipeline of Hybrid Capture-Based Targeted Sequencing Data with Unique Molecular Indexes (UMIs).Genomics & informatics · 2018Article
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEsophageal sarcomatoid carcinoma (ESC) is a rare disease with a mixture of both carcinomatous and sarcomatous components in the tumor. Its genetic background and mechanisms of oncogenesis remain largely unknown.
methodsHere we performed targeted next generation sequencing (NGS) on a pan-cancer gene panel in 15 ESC tumors to explore their genetic alterations, and aimed to identify clinically actionable mutations for future treatment instructions.
resultsTP53 alterations were identified in all patients. Alterations in receptor tyrosine kinases (RTK) were identified in 10 out of 15 patients. Members of downstream RAS and PI3-kinase pathways are also mutated in 10 patients, and PIK3CA is the top mutated gene in these pathways. In addition, we identified mutations on histone modification genes in 5 patients, including histone acetyltransferase gene EP300 and its homologue CREBBP, lysine methyltransferase genes KMT2A and KMT2B, and lysine demethylase gene KDM5A. Finally, mismatch repair (MMR) genes and proofreading gene POLE all together were mutated in one third of the ESC patients.
conclusionsThis is the first study to unravel the mutational profile of ESC tumors. Our findings could match 9 patients to the targeted therapies currently available in clinical practice or in active clinical trials, suggesting the potential utility of targeted therapies for this rare disease in the future.
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