Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia

Siegfried, Aurore; Masliah‐Planchon, Julien; Roux, Franck‐Emmanuel; Larrieu‐Ciron, Delphine; Pierron, Gaëlle; Nicaise, Yvan; Gambart, Marion; Catalaâ, I.; Péricart, Sarah; Dubucs, Charlotte; Oumoussa, Badreddine Mohand; Tirode, Franck; Bourdeaut, Franck; Uro‐Coste, Emmanuelle

doi:10.1186/s40478-019-0870-8

Cited by 24 publications

(30 citation statements)

References 9 publications

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“…The clinical and histopathologic features of the NUTM1-rearranged brain tumors reported to date are not specific and pose a diagnostic challenge. For the three cases with available histologic description, the tumors showed young age at presentation and hyperchromatic nuclei [4,7]. Cytologic features were dissimilar.…”

Section: Discussionmentioning

confidence: 93%

“…Five of the six cases reported as examples of a newly defined entity called “CNS Ewing sarcoma family tumor with CIC alteration” were shown to express NUT protein by immunohistochemistry and two of these were shown to have CIC-NUTM1 fusion [ 6 ]. An exceptional case of a NUTM1- rearranged brain tumor resulted in a disease-free survival at 16 months [ 7 ]. Our case showed a very aggressive course in the setting of a novel PARD3B-NUTM1 fusion accompanied by chromosomal copy number changes.…”

Section: Discussionmentioning

confidence: 99%

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A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult

Kitani

Harris

et al. 2020

acta neuropathol commun

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Section: Discussionmentioning

confidence: 93%

Section: Discussionmentioning

confidence: 99%

A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult

Kitani

Harris

et al. 2020

acta neuropathol commun

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“…An interesting likely addition to this tumor family has recently been reported in a frontal brain tumor with a ATXN1‐NUTM1 fusion in a 21‐year‐old woman. The tumor was composed of spindle cells in a chondromyxoid matrix . IHC showed expression of GFAP and CD56, and ETV4 RNA was overexpressed.…”

Section: Other Nutm1‐associated Solid Tumorsmentioning

confidence: 99%

“…The tumor was composed of spindle cells in a chondromyxoid matrix. 58 IHC showed expression of GFAP and CD56, and ETV4 RNA was overexpressed. DNA methylation analysis classified the tumor closest to Ewing family sarcomas with CIC alterations.…”

Section: Max Dimerization Protein (Mad)-nutm1 Tumorsmentioning

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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“…CIC fusion events involving other partners have also been identified in ELS (CIC-FOXO4) [21,22], peripheral neuroectodermal tumours (CIC-NUTM1) [23,24] and angiosarcoma (CIC-LEUTX) [25]. One fusion event involving the CIC interactor ATXN1 (ATXN1-NUTM1) has also been identified in a primitive brain tumour [26]. Although CIC-DUX4 fusions are the most prevalent, CIC rearrangements have been found to behave promiscuously, as many tumours with CIC rearrangements do not have known fusion partners [27,28].…”

Section: Cic Aberrations In Cancermentioning

confidence: 99%

Making heads or tails – the emergence of capicua (CIC) as an important multifunctional tumour suppressor

Wong

Yip

2020

The Journal of Pathology

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Capicua, encoded by the gene CIC, is an evolutionarily conserved high-mobility group-box transcription factor downstream of the receptor tyrosine kinase and mitogen-activated protein kinase pathways. It was initially discovered and studied in Drosophila. Recurrent mutations in CIC were first identified in oligodendroglioma, a subtype of low-grade glioma. Subsequent studies have identified CIC aberrations in multiple types of cancer and have established CIC as a potent tumour suppressor involved in regulating pathways related to cell growth and proliferation, invasion and treatment resistance. The most well-known and studied targets of mammalian CIC are the oncogenic E-Twenty Six transcription factors ETV1/4/5, which have been found to be elevated in cancers with CIC aberrations. Here, we review the role of CIC in normal mammalian development, oncogenesis and tumour progression, and the functional interactors that mediate them.

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Brain tumor with an ATXN1-NUTM1 fusion gene expands the histologic spectrum of NUTM1-rearranged neoplasia

Cited by 24 publications

References 9 publications

A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult

A novel PARD3B-NUTM1 fusion in an aggressive primary CNS embryonal tumor in a young adult

Emerging entities in NUTM1‐rearranged neoplasms

Making heads or tails – the emergence of capicua (CIC) as an important multifunctional tumour suppressor

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