ArticleGenes, chromosomes & cancer2018
CIC-NUTM1 fusion: A case which expands the spectrum of NUT-rearranged epithelioid malignancies.
Article in Genes, chromosomes & cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Salivary Gland NUT Carcinoma with Prolonged Survival in Children: Case Illustration and Systematic Review of Literature.Head and neck pathology · 2021Pooled it
- Undifferentiated round cell sarcoma with CIC::NUTM1 fusion: expanding the clinicopathologic spectrum of a rare molecular variant of CIC-rearranged sarcoma.Virchows Archiv : an international journal of pathology · 2026Article
- Modeling of Capicua Family Fusion Oncoprotein-Driven Cancers Reveals Gene-Specific Functionality.Molecular cancer research : MCR · 2026Article
- Clinicopathological features of CIC-rearranged sarcomas: a retrospective study including novel visceral locations and methylation profile analysis.Virchows Archiv : an international journal of pathology · 2026Article
- International guidelines on the diagnosis and treatment of NUT carcinoma.Innovation (Cambridge (Mass.)) · 2026Review
- Expanding the spectrum of non-canonical NUT carcinoma: clinicopathological and molecular characterization ofFrontiers in oncology · 2026Article
- Primary cutaneous NUT adnexal carcinoma: morphologic, genetic and methylation analysis of seven new cases with comparison to extracutaneous NUT carcinoma and NUTM1-rearranged porocarcinoma.Histopathology · 2025Article
- Hiding in plain sight: NUT carcinoma is an unrecognized subtype of squamous cell carcinoma of the lungs and head and neck.Nature reviews. Clinical oncology · 2025Review
- Ancillary Tools for the Diagnosis of CIC -Rearranged Sarcoma: A Comprehensive Review.Journal of cutaneous pathology · 2025Review
- CIC::NUTM1 sarcomas occurred in soft tissues of upper limbs : a rare case report and literature review.Diagnostic pathology · 2024Review
- Molecularly defined sinonasal malignancies: an overview with focus on the current WHO classification and recently described provisional entities.Virchows Archiv : an international journal of pathology · 2024Review
- Machine Learning-Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA Sequencing.The Journal of molecular diagnostics : JMD · 2024Article
- Molecular and therapeutic advancements in Capicua (Frontiers in cell and developmental biology · 2024Review
- Case of NUTM::CIC fusion sarcoma surrounding inflatable penile prosthesis.Urology case reports · 2023Article
- The expanding universe of NUTM1 fusions in pediatric cancer.Clinical and translational science · 2023Review
- Nuclear protein in testis carcinoma of the lung.Translational oncology · 2023Review
- Translocations and Gene Fusions in Sinonasal Malignancies.Current oncology reports · 2023Review
- NUTM1-fusion positive malignant neoplasms of the genitourinary tract: A report of six cases highlighting involvement of unusual anatomic locations and histologic heterogeneity.Genes, chromosomes & cancer · 2022Article
- Unusual lung tumors-from morphology to genetics.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Review
- NUT Carcinoma: Clinicopathologic Features, Molecular Genetics and Epigenetics.Frontiers in oncology · 2022Review
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
NUT carcinoma (NC) shows very aggressive clinical behavior, occurs predominantly in the thorax and head and neck region of children and adults, and is defined by the presence of NUT (aka NUTM1) rearrangement, mostly BRD4-NUTM1 fusion resulting from t(15;19)(q13; p13.1). So-called "NUT variants" harbor alternate fusions between NUTM1 and BRD3, NSD3, ZNF532, or unknown partners. Rare cases of pediatric tumors with CIC-NUTM1 fusion were recently reported in somatic soft tissue, brain, and kidney. However, such cases have not been identified in adult patients and the presence of a fusion between CIC, characteristic of CIC-rearranged sarcoma, and NUTM1-a defining feature of NC-poses a diagnostic challenge. We herein report a case of malignant epithelioid neoplasm with myoepithelial features harboring CIC-NUTM1 fusion arising in soft tissue of the head in a 60-year-old man. Immunohistochemistry revealed strong expression of NUT, but only weak ETV4 staining and negativity for keratins, EMA, p40, CD99, and WT1. SMARCB1 expression was retained. Fluorescence in situ hybridization and targeted next-generation sequencing identified a CIC-NUTM1 fusion resulting from t(15;19)(q14;q13.2). In light of morphologic features that overlap with those of NC from typical anatomical sites we have seen previously, the tumor was best classified as falling within the NC spectrum rather than CIC-associated sarcoma. This case highlights the emerging diagnostic challenges generated by newly detected gene fusions of unknown clinical and biologic significance. Careful integration of cytogenetic, molecular, and immunohistochemical findings with morphologic appearances in the diagnostic workup of undifferentiated neoplasms is essential.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.