Renal <scp>NUT</scp> carcinoma: a case report

Sirohi, Deepika; Garg, Karuna; Simko, Jeffry P.; Grenert, James P.

doi:10.1111/his.13368

Cited by 10 publications

(10 citation statements)

References 8 publications

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“…Six cases were identified from institutional pathology archives; one of the cases (Patient 6) has previously been reported (Table 1). (8) The mean patient age was 42 years (range: 3-71 years). There were an equal number of females and males.…”

Section: Resultsmentioning

confidence: 99%

“…NUT midline carcinoma (also known as NUT carcinoma) is a clinically aggressive neoplasm that typically occurs in the head and neck(1) or mediastinum;(2, 3) although more recently, there have been reports of primary lung,(4-6) and renal involvement. (7, 8) Considered rare, the actual incidence of NUT midline carcinoma is unknown, and presumably significantly underestimated. (9) While initial reports suggested a pediatric predisposition, increased recognition of this entity has led to broader characterization amongst adults.…”

Section: Introductionmentioning

confidence: 99%

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NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors

Dickson

Sung

Rosenblum

et al. 2018

American Journal of Surgical Pathology

110

230

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NUT midline carcinoma is an aggressive tumor that occurs mainly in the head and neck and, less frequently, the mediastinum and lung. Following identification of an index case of a NUTM1 fusion positive undifferentiated soft tissue tumor, we interrogated additional cases of primary undifferentiated soft tissue and visceral tumors for NUTM1 abnormalities. Targeted next-generation sequencing was performed on RNA extracted from formalin-fixed paraffin-embedded tissue, and results validated by fluorescence in situ hybridization using custom bacterial artificial chromosome probes. Six patients were identified: mean age of 42 years (range, 3 to 71 y); equal sex distribution; and, tumors involved the extremity soft tissues (N=2), kidney (N=2), stomach, and brain. On systemic work-up at presentation all patients lacked a distant primary tumor. Morphologically, the tumors were heterogenous, with undifferentiated round-epithelioid-rhabdoid cells arranged in solid sheets, nests, and cords. Mitotic activity was generally brisk. Four cases expressed pancytokeratin, but in only 2 cases was this diffuse. Next-generation sequencing demonstrated the following fusions: BRD4-NUTM1 (3 cases), BRD3-NUTM1, MXD1-NUTM1, and BCORL1-NUTM1. Independent testing by fluorescence in situ hybridization confirmed the presence of NUTM1 and partner gene rearrangement. This study establishes that NUT-associated tumors transgress the midline and account for a subset of primitive neoplasms occurring in soft tissue and viscera. Tumors harboring NUTM1 gene fusions are presumably underrecognized, and the extent to which they account for undifferentiated mesenchymal, neuroendocrine, and/or epithelial neoplasms is unclear. Moreover, the relationship, if any, between NUT-associated tumors in soft tissue and/or viscera, and conventional NUT carcinoma, remains to be elucidated.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors

Dickson

Sung

Rosenblum

et al. 2018

American Journal of Surgical Pathology

110

230

View full text Add to dashboard Cite

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“…NMC is a form of rare, aggressive, and poorly differentiated disease that can affect many organs but that most often originates in the midline regions of the head and neck, lung, and mediastinum, although it has also been reported in other tissues including the kidney, bladder, liver, salivary glands, and pancreas [11,12]. Herein, we have reported on a series of 5 cases of NMC, including one case of a NUT carcinoma arising in the gingiva, which has never previously been reported.…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological Analysis of Five Cases of NUT Midline Carcinoma, including One with the Gingiva

Zhou

Xiang

Zhou

et al. 2020

BioMed Research International

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Aims. NUT midline carcinoma (NMC) is a rare, poorly differentiated carcinoma defined by the presence of NUT gene rearrangement. In order to better understand the diagnostic and clinicopathologic features of this disease as they pertain to clinical practice, we have herein compiled findings pertaining to 5 cases of NMC at our institution. Methods. Clinicopathological findings from 5 NMC cases were retrospectively reviewed, with histologic findings being reassessed and summarized accordingly. Tumor samples in the present study had been stained for markers including NUT, P63, P40, TTF-1, keratin, CK7, Syn, CD56, CgA, CD34, CD117, EGFR, and Ki-67. All cases were subjected to both fluorescence in situ hybridization (FISH) and followed up. Results. Of these 5 NMC cases, 2 were males and 3 were females, with ages ranging from 26 to 69 years. A total of 2 cases localized to the lung, 1 to the larynx, 1 to the maxillary gingiva, and 1 to the orbital cavity. Upon microscopic assessment, these tumors appeared as clusters of small rounded cells with interstitial neutrophil infiltration. Squamous epithelial differentiation varied between samples. NUT staining revealed strong diffuse nuclear staining in tumor cells, and FISH confirmed the presence of NUT gene translocation in these samples. Conclusions. NMC is a form of highly invasive cancer that can manifest in a number of tissues including the gingiva. NMC tumors have a fairly well-defined pathological morphology, and both immunohistochemistry and FISH are valuable for NMC diagnosis.

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“…Primary renal NUT carcinoma is extremely rare. Our literature search identi ed reports of only ve other cases of primary renal NUT carcinoma [4][5][6][7]. The clinicopathological features of the current patient and those of the previously reported ve cases are summarized in Table 1.…”

Section: Discussionmentioning

confidence: 99%

Primary renal NUT carcinoma identified by next-generation sequencing: A case report and literature review

Yang

Shen

Shi

2020

Preprint

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Background NUT carcinoma is a rare aggressive squamous cell carcinoma subtype genetically defined by NUTM1 rearrangements. NUT carcinoma usually has a primitive differentiation state and can be easily misdiagnosed as an undifferentiated carcinoma or Ewing sarcoma. Case presentation We report a case of NUT carcinoma of renal origin initially diagnosed as a malignant small round-cell tumor, likely to be Ewing sarcoma/primitive neuroectodermal tumor. Based on next-generation sequencing (NGS), the diagnosis was revised to NUT carcinoma with a characteristic NUTM1 rearrangement. The patient relapsed after surgery and received a standard NUT carcinoma treatment. However, due to advanced neoplasm progression, first-line chemotherapy failed and the patient died. Conclusion Routine NUT immunohistochemistry staining, NGS, and/or fluorescent in situ hybridization for poorly differentiated carcinoma and sarcoma tumors can help avoid misdiagnosis of NUT carcinoma-related tumors, allowing patients to benefit from bromodomain and extra-terminal motif inhibitor therapy.

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Renal NUT carcinoma: a case report

Cited by 10 publications

References 8 publications

NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors

NUTM1 Gene Fusions Characterize a Subset of Undifferentiated Soft Tissue and Visceral Tumors

Clinicopathological Analysis of Five Cases of NUT Midline Carcinoma, including One with the Gingiva

Primary renal NUT carcinoma identified by next-generation sequencing: A case report and literature review

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