Diagnosis of NUT carcinoma of lung origin by next-generation sequencing: case report and review of the literature

Mao, Naiquan; Liao, Zhiling; Wu, Junwei; Liang, Kai; Wang, Shoufeng; Qin, Shaomian; Dou, Ying; Lin, Hanqing; Dong, Xiaowei

doi:10.1080/15384047.2018.1523852

Cited by 28 publications

(23 citation statements)

References 30 publications

(21 reference statements)

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“…3 Some novel targeted therapies such as BET inhibitors and histone deacetylase inhibitors have been developed, and have shown effectiveness regarding the antitumoral response. 4 No pathognomonic morphological and immunohistochemical features have been described; although some microscopic appearances, such as abrupt keratinisation, are very characteristic, they are not entirely sensitive and specific. NUT carcinoma can be identified only by detecting the accumulation of NUT protein and/or the translocation.…”

Section: Commentmentioning

confidence: 99%

Immunohistochemical neuroendocrine marker expression in primary pulmonary NUT carcinoma: a diagnostic pitfall

et al. 2020

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A 72-year-old non-smoking female presented with cough and bloody sputum. Chest X-ray showed a left parahilar nodular opacity, probably arising from the upper segment of the lower lobe of the left lung. Computed tomography scan imaging showed a hypodense homogeneous nodule of 43 mm in the lower lobe of the left lung, with pathological uptake of the lesion (standardised uptake value maximum of 19.7) on positron emission tomography. The patient underwent bronchoscopy and transbronchial biopsy. The specimen was composed of large areas of coagulative necrosis and sheets of highly proliferative undifferentiated cells, with sharp and irregular contours, eosinophilic cytoplasm, vesicular chromatin, and

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Section: Commentmentioning

confidence: 99%

Immunohistochemical neuroendocrine marker expression in primary pulmonary NUT carcinoma: a diagnostic pitfall

et al. 2020

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“…Other diagnosis approaches for detecting the gene fusion (BRD4-NUT) include fluorescence in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR), and next-generation sequencing (NGS) [ 1 , 13 – 15 ]. Whole-exome sequencing (WES) is an NGS-based approach that can be used to measure tumour mutational burden (TMB) and gene mutations in lung cancer as well as BRD4-NUT gene fusion [ 16 – 18 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma

Xie

Wang

Qin

et al. 2020

Orphanet J Rare Dis

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Objective: NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, there is no standard for the management of primary pulmonary NMC. This study aimed to confirm the clinical features and report the treatments, especially with immune checkpoint inhibitors (ICIs), and outcomes of patients with primary pulmonary NMC. Methods: A retrospective review of patients with primary pulmonary NMC was performed in the First Affiliated Hospital of Guangzhou Medical University between January 2015 and December 2018. Clinical manifestations as well as radiographic and pathological findings were recorded. Whole-exome sequencing (WES), a predictor for ICI response, was used to determine the tumour mutational burden (TMB). Treatments, especially by immune checkpoint blockade, and patient survival were analysed. Results: Seven patients with primary pulmonary mass (four men and three women) with a mean age of 42 years (range, 23-74) who were diagnosed with NMC according to NUT immunohistochemistry staining were included for analysis. One patient had a rare fusion of CHRM5-NUTM1 by tumour sequencing. A wide range of TMB (1.75-73.81 mutations/Mbp) was observed. The initial treatments included chemotherapy (5/7, 71.4%), surgery (1/7, 14.3%), and radiotherapy (1/7, 14.3%). Five patients (5/7, 71.4%) received ICIs (programmed cell death protein 1 [PD1]/ programmed cell death ligand 1 [PDL1] monoclonal antibody) as second-or higher-line treatments. The median overall survival (OS) was 4.1 months (range, 1.5-26.7 months). Conclusions: Patients with primary pulmonary NMC have a poor prognosis and chemotherapy is often preferred. Checkpoint immunotherapy is a good option as the second-or higher-line treatment. TMB seems to be not associated with OS.

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“…Other diagnosis approaches for detecting the gene fusion (BRD4-NUT) include uorescence in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR), and next-generation sequencing (NGS) 1,[13][14][15] . Whole-exome sequencing (WES) is an NGS-based approach that can be used to measure tumour mutational burden (TMB) and gene mutations in lung cancer as well as BRD4-NUT gene fusion [16][17][18] .…”

Section: Introductionmentioning

confidence: 99%

Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma

Xie

Wang

Qin

et al. 2020

Preprint

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Objective: NUT midline carcinoma (NMC), a rare type of squamous cell carcinoma, is genetically characterised by NUT midline carcinoma family member 1 (NUTM1) gene rearrangement. NMC can arise from the lungs; however, there is no standard for the management of primary pulmonary NMC. This study aimed to confirm the clinical features and report the treatments, especially with immune checkpoint inhibitors (ICIs), and outcomes of patients with primary pulmonary NMC. Methods: A retrospective review of patients with primary pulmonary NMC was performed in the First Affiliated Hospital of Guangzhou Medical University between January 2015 and December 2018. Clinical manifestations as well as radiographic and pathological findings were recorded. Whole-exome sequencing (WES), a predictor for ICI response, was used to determine the tumour mutational burden (TMB). Treatments, especially by immune checkpoint blockade, and patient survival were analysed.Results: Seven patients with primary pulmonary mass (four men and three women) with a mean age of 42 years (range, 23–74) who were diagnosed with NMC according to NUT immunohistochemistry staining were included for analysis. One patient had a rare fusion of CHRM5-NUTM1 by tumour sequencing. A wide range of TMB (1.75–73.81 mutations/Mbp) was observed. The initial treatments included chemotherapy (5/7, 71.4%), surgery (1/7, 14.3%), and radiotherapy (1/7, 14.3%). Five patients (5/7, 71.4%) received ICIs (programmed cell death protein 1 [PD1]/programmed cell death ligand 1 [PDL1] monoclonal antibody) as second- or higher-line treatments. The median overall survival (OS) was 4.1 months (range, 1.5–26.7 months). Conclusions: Patients with primary pulmonary NMC have a poor prognosis and chemotherapy is often preferred. Checkpoint immunotherapy is a good option as the second- or higher-line treatment. TMB seems to be not associated with OS.

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Diagnosis of NUT carcinoma of lung origin by next-generation sequencing: case report and review of the literature

Cited by 28 publications

References 30 publications

Immunohistochemical neuroendocrine marker expression in primary pulmonary NUT carcinoma: a diagnostic pitfall

Immunohistochemical neuroendocrine marker expression in primary pulmonary NUT carcinoma: a diagnostic pitfall

Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma

Clinical features, treatment, and survival outcome of primary pulmonary NUT midline carcinoma

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