The whole treatment process and thinking of a patient with NUT carcinoma of the parotid gland: a case report

Fu, Shujuan; Wang, Zhiying; Li, Cunya; Li, Yun; Zhang, Ke; Zhang, Zhixian; Zhong, Yi

doi:10.3389/fonc.2023.1094770

Cited by 5 publications

(8 citation statements)

References 24 publications

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“…The anatomical origin of HN‐NUT carcinoma is broad. Although sinonasal tract is the most commonly affected site, as documented in a previous systematic review 12 and in the current study, other reported sites of involvement included the thyroid gland, 7,18,19 major salivary glands (parotid, 14,15 submandibular 17,20,21 and sublingual 22 ), lacrimal gland, 14 larynx, 16 hypopharynx, 23 mandibular bone, 12 ear canal, 12 oral cavity, nasopharynx and neck soft tissue (current study). Although the median age of presentation of HN‐NUT carcinoma is in the 30s age range (37 years in a systematic review 12 and 39 years in the current study), the tumour may affect a wide age range, from 5 12 to 86 years (in the current study).…”

Section: Discussionsupporting

confidence: 66%

The histological spectrum and immunoprofile of head and neck NUT carcinoma: A multicentre series of 30 cases

Viswanathan,

Hahn,

Dogan

et al. 2024

Histopathology

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Background and aimHead and neck nuclear protein of testis carcinoma (HN‐NUT) is a rare form of carcinoma diagnosed by NUT immunohistochemistry positivity and/or NUTM1 translocation. Although the prototype of HN‐NUT is a primitive undifferentiated round cell tumour (URC) with immunopositivity for squamous markers, it is our observation that it may assume variant histology or immunoprofile.MethodsWe conducted a detailed clinicopathological review of a large retrospective cohort of 30 HN‐NUT, aiming to expand its histological and immunohistochemical spectrum.ResultsThe median age of patients with HN‐NUT was 39 years (range = 17–86). It affected the sinonasal tract (43%), major salivary glands (20%), thyroid (13%), oral cavity (7%), larynx (7%), neck (7%) and nasopharynx (3%). Although most cases of HN‐NUT (63%) contained a component of primitive URC tumour, 53% showed other histological features and 37% lacked a URC component altogether. Variant histological features included basaloid (33%), differentiated squamous/squamoid (37%), clear cell changes (13%), glandular differentiation (7%) and papillary architecture (10%), which could co‐exist. While most HN‐NUT were positive for keratins, p63 and p40, occasional cases (5–9%) were entirely negative. Immunopositivity for neuroendocrine markers and thyroid transcription factor‐1 was observed in 33 and 36% of cases, respectively. The outcome of HN‐NUT was dismal, with a 3‐year disease specific survival of 38%.ConclusionsHN‐NUT can affect individuals across a wide age range and arise from various head and neck sites. It exhibits a diverse spectrum of histological features and may be positive for neuroendocrine markers, potentially leading to underdiagnosis. A low threshold to perform NUT‐specific tests is necessary to accurately diagnose HN‐NUT.

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Section: Discussionsupporting

confidence: 66%

The histological spectrum and immunoprofile of head and neck NUT carcinoma: A multicentre series of 30 cases

Viswanathan,

Hahn,

Dogan

et al. 2024

Histopathology

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“…As demonstrated by the current case and those reported in the literature, a misdiagnosis in a peripheral center is quite common. At the same time, the correct diagnosis is often reached only after a second opinion in a specialized high‐volume clinical institution 12–28 …”

Section: Discussionmentioning

confidence: 99%

“…We found 19 cases of NUTc arising from major salivary glands reported in the literature, with a timeframe ranging from 2009 to 2023. 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 (Tables 1 and 2 , Supplementary Table S1 ).…”

Section: Discussionmentioning

confidence: 99%

“…The WHO classification of head and neck tumors defines NUTc as a “poorly differentiated carcinoma, often with evidence of squamous differentiation”, indeed the most common misdiagnoses are poorly differentiated carcinoma and poorly differentiated squamous carcinoma, as underlined in Table 2 . 5 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 …”

Section: Discussionmentioning

confidence: 99%

“…At the same time, the correct diagnosis is often reached only after a second opinion in a specialized high‐volume clinical institution. 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 …”

Section: Discussionmentioning

confidence: 99%

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NUT carcinoma of the submandibular gland: A case report

Rota,

Quattrone,

Centonze

et al. 2023

Cancer Reports

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BackgroundNUT carcinoma (NUTc) is a rare and aggressive malignant epithelial tumor characterized by rearrangement of the NUT gene on chromosome 15q14.MethodsIn this article, we present the fifth case worldwide of a young woman affected by a NUTc arising from a submandibular gland, presenting as a rapidly evolving mass. She underwent a right scialoadenectomy and received the initial diagnosis of high‐grade mucoepidermoid carcinoma. Due to evidence of local recurrence at magnetic resonance imaging 1 month later, a subsequent right radical neck dissection was performed. The patient then sought a second opinion at our cancer center and finally received the correct diagnosis of NUT carcinoma. Given the well‐known aggressive behavior of this neoplasm, as well as clinical and radiological features, she underwent adjuvant chemo‐radiation (intensity‐modulated radiotherapy + concurrent chemotherapy with cisplatin).ResultsAfter a disease‐free interval of 2.6 months, a widespread metastatic disease led to rapid deterioration of performance status and patient death in a few weeks after metastatic onset.ConclusionsWe presented a case of NUTc arising from salivary gland aiming to improve the knowledge of this rare malignancy. First, we pointed out that in the setting of rare tumors like salivary gland cancers, the diagnosis should be obtained by expert pathologists, and patients should be referred to tertiary cancer centers for their clinical management. Second, molecular profiling may help to identify possible druggable targets that may be exploited to treat patients suffering from this aggressive malignancy. Sharing the molecular data provided in this case will be useful for further research.

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Primary Nuclear Protein in Testis (NUT) Carcinoma of the Lung: Clinical, Genetic, and Pathological Characterization

Qu,

Chen,

Zhu

et al. 2024

Preprint

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Background: Nuclear protein in testis(NUT) carcinoma of the lung is an extremely rare malignancy, predominantly affecting adolescents and young adults, and is associated with poor prognosis. To date, no comprehensive review has synthesized clinical, imaging, pathological, and genetic features, as well as management strategies for patients with primary NUT carcinoma of the lung. Method: This study retrospectively analyzed a cohort of five adult patients with pulmonary NUT carcinoma treated at the First Affiliated Hospital, College of Medicine, Zhejiang University, between 2020 and 2023. Clinical, imaging, pathological, and genetic data were collected and analyzed. Treatment decisions, therapeutic responses, and overall survival (OS) were closely monitored. Additionally, tumor genome sequencing data were subjected to a thorough analysis. Results: The median age at diagnosis for patients in this cohort was 44 years (range: 20–74 years), with 60% (3/5) testing positive for the BRD3-NUTM1 fusion gene. Most patients (60%, 3/5) had a confirmed distant metastasis status based on pathology or imaging at the time of diagnosis. In all cases, the primary lung mass was centrally located, predominantly in the lower lobes. Airway neobiological masses were the primary manifestations in two patients, while three cases showed bilateral mediastinal lymphadenopathy. Immunohistochemistry (IHC) analysis revealed that all patients were positive for P40 or P63. Among the five patients, patient 1 received chemotherapy, resulting in an OS of only 10 months. Patients 2 and 4 underwent chemoimmunotherapy, achieving OS durations of 15 and 8 months, respectively. Patients 3 and 5 underwent surgery due to early diagnosis, resulting in OS durations of more than 9 and 28 months, respectively. Conclusion: Diagnosis and management of NUT carcinoma of the lungs pose significant challenges. IHC, fluorescence in situ hybridization (FISH), and RNA-sequencing play crucial roles in distinguishing poorly differentiated lung squamous cell carcinoma from NUT carcinoma. Surgical resection substantially improves survival rates for patients with early-stage NUT midline carcinoma of the lung. However, for those with advanced pulmonary NC, specialized nationwide clinical studies are imperative, as current treatment modalities are unlikely to achieve long-term survival.

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The whole treatment process and thinking of a patient with NUT carcinoma of the parotid gland: a case report

Cited by 5 publications

References 24 publications

The histological spectrum and immunoprofile of head and neck NUT carcinoma: A multicentre series of 30 cases

The histological spectrum and immunoprofile of head and neck NUT carcinoma: A multicentre series of 30 cases

NUT carcinoma of the submandibular gland: A case report

Primary Nuclear Protein in Testis (NUT) Carcinoma of the Lung: Clinical, Genetic, and Pathological Characterization

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