Sarcoma with MGA–NUTM1 fusion in the lung: an emerging entity

Goto, Taichiro; Arai, Yasuhito; Shibata, Tatsuhiro; Oyama, Toshio; Yoshida, Akihiko

doi:10.1007/s00428-019-02623-8

Cited by 14 publications

(32 citation statements)

References 16 publications

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“…Over the last several years evidence has accumulated that NUTM1 rearrangements can be found outside the standard clinicopathologic setting of NC. Of particular interest, several members of the MAX Dimerization ( MAD ) gene family, including MXD1 , MXD4 , and MGA have now been identified as NUTM1 fusion partners. Tumors with MAD‐NUTM1 fusions have overlapping histopathological features with NCs, but overall are less differentiated as determined by both morphology and IHC.…”

Section: Max Dimerization Protein (Mad)‐nutm1 Tumorsmentioning

confidence: 99%

“…Tumors with MAD‐NUTM1 fusions have overlapping histopathological features with NCs, but overall are less differentiated as determined by both morphology and IHC. They are typically composed of sheets of round or mixed round/spindled cells, sometimes with rhabdoid or giant cells . Importantly, morphological evidence of epithelial differentiation, including the abrupt keratinizing foci seen in NCs, is absent in MAD‐NUTM1 tumors.…”

Section: Max Dimerization Protein (Mad)‐nutm1 Tumorsmentioning

confidence: 99%

“…Over the last several years evidence has accumulated that NUTM1 22 Importantly, morphological evidence of epithelial differentiation, including the abrupt keratinizing foci seen in NCs, is absent in MAD-NUTM1 tumors. A few are associated with distinctive matrix including collagenous "amianthoid" fibres 26,[46][47][48] or chondroid differentiation. 26 The undifferentiated morphology is borne out by IHC, which typically shows variable expression of the nonspecific markers CD99, CD34, and BCL2, and no expression of cytokeratins, p63/p40, EMA, S100, GFAP, neuroendocrine markers, or lymphoid markers.…”

Section: Max Dimerization Protein (Mad)-nutm1 Tumorsmentioning

confidence: 99%

“…26 The undifferentiated morphology is borne out by IHC, which typically shows variable expression of the nonspecific markers CD99, CD34, and BCL2, and no expression of cytokeratins, p63/p40, EMA, S100, GFAP, neuroendocrine markers, or lymphoid markers. 22,26,[45][46][47][48] Since only very few MAD-NUTM1…”

Section: Max Dimerization Protein (Mad)-nutm1 Tumorsmentioning

confidence: 99%

“…Tumors with MAD-NUTM1 fusions have overlapping histopathological features with NCs, but overall are less differentiated as determined by both morphology and IHC. They are typically composed of sheets of round or mixed round/spindled cells,22,26,[45][46][47][48] sometimes with rhabdoid or giant cells.…”

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confidence: 99%

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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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Section: Max Dimerization Protein (Mad)‐nutm1 Tumorsmentioning

confidence: 99%

Section: Max Dimerization Protein (Mad)‐nutm1 Tumorsmentioning

confidence: 99%

Section: Max Dimerization Protein (Mad)-nutm1 Tumorsmentioning

confidence: 99%

Section: Max Dimerization Protein (Mad)-nutm1 Tumorsmentioning

confidence: 99%

mentioning

confidence: 99%

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Emerging entities in NUTM1‐rearranged neoplasms

McEvoy

Fox

Prall

2020

Genes Chromosomes & Cancer

106

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Cytomorphology of NUTM1‐rearranged sarcoma involving pleural fluid

Chen

Larsen

Dermawan

et al. 2022

Diagnostic Cytopathology

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We describe an exceedingly rare cytology case of a NUTM1-rearranged sarcoma involving pleural fluid. A 48-year-old female presented with progressive abdominal pain. Computed tomography (CT) scan of the abdomen revealed a 5.6 cm soft tissue mass in the right hemi-abdomen. Needle core biopsy of the mass showed a small round cell tumor. Extensive work-up including next generation sequencing (NGS) demonstrated a NUTM1:MXI1 rearranged sarcoma. The patient was first treated with ifosfamide, carboplatin, and etoposide (ICE) chemotherapy. She responded initially

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Update on genetically defined lung neoplasms: NUT carcinoma and thoracic SMARCA4-deficient undifferentiated tumors

Chatzopoulos

Boland

2021

Virchows Arch

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Sarcoma with MGA–NUTM1 fusion in the lung: an emerging entity

Cited by 14 publications

References 16 publications

Emerging entities in NUTM1‐rearranged neoplasms

Emerging entities in NUTM1‐rearranged neoplasms

Cytomorphology of NUTM1‐rearranged sarcoma involving pleural fluid

Update on genetically defined lung neoplasms: NUT carcinoma and thoracic SMARCA4-deficient undifferentiated tumors

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