NUT carcinoma of the thorax: Case report and review of the literature

Harms, Alexander; Herpel, Esther; Pfarr, Nicole; Penzel, Roland; Heußel, Claus-Peter; Herth, Felix; Dienemann, Hendrik; Weichert, Wilko; Warth, Arne

doi:10.1016/j.lungcan.2015.10.001

Cited by 34 publications

(33 citation statements)

References 41 publications

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“…NUP98-NSD3 fusion transcripts associated with t(8;11)(p11.2;p15) have been reported in one patient with AML, one patient with therapy-related MDS and one patient with radiation-associated MDS, and both NSD3-long and NSD3-short isoforms have been detected to be fused to NUP98 in leukemic cell lines (Rosati et al 2002; Romana et al 2006; Taketani et al 2009). In addition, NSD3 was detected as a fusion oncoprotein with the NUT gene in the rare and aggressive NUT midline carcinoma (NMC) (French et al 2014; Harms et al 2015; Kuroda et al 2015; Suzuki et al 2015). A t(8;15)(p12;q15) translocation was identified as responsible for the NSD3-NUT fusion in a patient-derived NMC cell line, and knockdown of the NSD3-NUT fusion revealed that this fusion protein functioned to block differentiation and promote proliferation (French et al 2014).…”

Section: Nsd3 Role In Cancermentioning

confidence: 99%

The Role of Nuclear Receptor–Binding SET Domain Family Histone Lysine Methyltransferases in Cancer

Bennett

Swaroop

Troche

et al. 2017

Cold Spring Harb Perspect Med

151

184

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The Nuclear receptor-binding SET Domain (NSD) family of histone H3 lysine 36 methyl transferases is comprised of NSD1, NSD2 (MMSET/WHSC1), and NSD3 (WHSC1L1). These enzymes recognize and catalyze methylation of histone lysine marks to regulate chromatin integrity and gene expression. The growing number of reports demonstrating that alterations or translocations of these genes fundamentally affect cell growth and differentiation leading to developmental defects illustrates the importance of this family. In addition, overexpression, gain of function somatic mutations and translocations of NSDs are associated with human cancer and can trigger cellular transformation in model systems. Here we review the functions of NSD family members and the accumulating evidence that these proteins play key roles in tumorigenesis. Since epigenetic therapy is an important emerging anti-cancer strategy, understanding the function of NSD family members may lead to the development of novel therapies.

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Section: Nsd3 Role In Cancermentioning

confidence: 99%

The Role of Nuclear Receptor–Binding SET Domain Family Histone Lysine Methyltransferases in Cancer

Bennett

Swaroop

Troche

et al. 2017

Cold Spring Harb Perspect Med

151

184

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“…Molecular studies confirmed that the translocation fused the 5′ region of the bromodomain‐containing protein 4 ( BRD4 ) gene on chromosome 19 to almost the entire nuclear protein in testis ( NUTM1 ) gene on chromosome 15 . Subsequent studies determined that ~80% of NUT carcinomas (NCs) harbored a BRD4‐NUTM1 fusion while the remaining NCs were termed “NUT variant carcinomas.” Later reports revealed the BRD3‐NUTM1 fusion to represent around 10% of NCs, while nuclear receptor binding SET domain protein 3 ( NSD3 ) ‐NUTM1 fusions were also found to be present in some cases …”

Section: Introductionmentioning

confidence: 99%

Emerging entities in NUTM1‐rearranged neoplasms

McEvoy

Fox

Prall

2020

Genes Chromosomes & Cancer

106

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Structural alterations of NUTM1 were originally thought to be restricted to poorly differentiated carcinomas with variable squamous differentiation originating in the midline organs of children and adolescents. Termed NUT carcinomas (NCs), they were defined by a t(15;19) chromosomal rearrangement that was found to result in a BRD4‐NUTM1 gene fusion. However, the use of DNA and RNA‐based next‐generation sequencing has recently revealed a multitude of new NUTM1 fusion partners in a diverse array of neoplasms including sarcoma‐like tumors, poromas, and acute lymphoblastic leukemias (ALLs) that we propose to call NUTM1‐rearranged neoplasms (NRNs). Intriguingly, the nosology of NRNs often correlates with the functional classification of the fusion partner, suggesting different oncogenic mechanisms within each NRN division. Indeed, whereas NCs are characterized by their aggressiveness and intransigence to standard therapeutic measures, the more positive clinical outcomes seen in some sarcoma and ALL NRNs may reflect these mechanistic differences. Here we provide a broad overview of the molecular, nosological, and clinical features in these newly discovered neoplastic entities. We describe how aberrant expression of NUTM1 due to fusion with an N‐terminal DNA/chromatin‐binding protein can generate a potentially powerful chromatin modifier that can give rise to oncogenic transformation in numerous cellular contexts. We also conclude that classification, clinical behavior, and therapeutic options may be best defined by the NUTM1 fusion partner rather than by tumor morphology or immunohistochemical profile.

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“…Chronic cough, dyspnea, hemoptysis, chest pain, and fatigue are among the main presenting complaints [3]. …”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, our patient is the third reported case of intrathoracic NUT carcinoma with positivity for p40 [3]. …”

Section: Discussionmentioning

confidence: 99%

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Nuclear protein in testis carcinoma of the mediastinum: a case report

Boleto

Perotin

Launois³

et al. 2017

J Med Case Reports

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BackgroundNuclear protein in testis carcinoma is a rare and very aggressive undifferentiated cancer which characteristically arises in the midline of the head, neck, and mediastinum.Case presentationWe describe the case of a 46-year-old white woman admitted for superior vena cava syndrome revealing a mediastinal tumor. Pathological examination of specimens obtained by mediastinoscopy revealed an undifferentiated tumor with solid growth and positive immunoreactivity for p40 and negative immunoreactivity for cytokeratin markers. Immunohistochemical staining was positive for nuclear protein in testis, allowing the diagnosis of nuclear protein in testis midline carcinoma of the mediastinum.ConclusionsWe present a rare case of mediastinal nuclear protein in testis carcinoma with diagnosis based on nuclear protein in testis protein positivity and atypical immunohistochemical features including p40 positivity and anti-cytokeratin negativity. Physicians must remain aware of the possibility of nuclear protein in testis carcinoma especially in young patients with thoracic symptoms and suspicion of neoplasm.

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NUT carcinoma of the thorax: Case report and review of the literature

Cited by 34 publications

References 41 publications

The Role of Nuclear Receptor–Binding SET Domain Family Histone Lysine Methyltransferases in Cancer

The Role of Nuclear Receptor–Binding SET Domain Family Histone Lysine Methyltransferases in Cancer

Emerging entities in NUTM1‐rearranged neoplasms

Nuclear protein in testis carcinoma of the mediastinum: a case report

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