PDF(Pubmed)
Abstract：
OBJECTIVE: Head 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.
METHODS: We conducted a detailed clinicopathological review of a large retrospective cohort of 30 HN-NUT, aiming to expand its histological and immunohistochemical spectrum.
RESULTS: The 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%.
CONCLUSIONS: HN-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.
METHODS: We conducted a detailed clinicopathological review of a large retrospective cohort of 30 HN-NUT, aiming to expand its histological and immunohistochemical spectrum.
RESULTS: The 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%.
CONCLUSIONS: HN-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.
摘要：
目的：睾丸癌头颈部核蛋白（HN-NUT）是一种罕见的NUT免疫组化阳性和/或NUTM1易位诊断癌症。尽管HN-NUT的原型是原始的未分化圆形细胞肿瘤（URC），对鳞状标记物具有免疫阳性，根据我们的观察，它可能具有不同的组织学或免疫特征。
方法：我们对30例HN-NUT的大型回顾性队列进行了详细的临床病理回顾，旨在扩大其组织学和免疫组织化学谱。
结果：HN-NUT患者的中位年龄为39岁（范围=17-86）。它影响了鼻窦（43％），主要唾液腺（20%），甲状腺（13％），口腔（7%），喉部(7%),颈部（7％）和鼻咽（3％）。尽管大多数HN-NUT病例（63％）含有原始URC肿瘤的成分，53%显示其他组织学特征，37%完全缺乏URC成分。不同的组织学特征包括基底细胞样（33%），分化鳞状/鳞状（37％），透明细胞变化（13%），腺体分化（7%）和乳头状结构（10%），可以共存。虽然大多数HN-NUT对角蛋白呈阳性，p63和p40，偶发病例（5-9％）完全阴性。在33％和36％的病例中观察到神经内分泌标志物和甲状腺转录因子-1的免疫阳性，分别。HN-NUT的结果令人沮丧，3年疾病特异性生存率为38%。
结论：HN-NUT可以影响广泛年龄范围内的个体，并出现在各种头颈部部位。它表现出不同的组织学特征，并且可能对神经内分泌标志物呈阳性，可能导致诊断不足。执行NUT特定测试的低阈值对于准确诊断HN-NUT是必要的。
方法：我们对30例HN-NUT的大型回顾性队列进行了详细的临床病理回顾，旨在扩大其组织学和免疫组织化学谱。
结果：HN-NUT患者的中位年龄为39岁（范围=17-86）。它影响了鼻窦（43％），主要唾液腺（20%），甲状腺（13％），口腔（7%），喉部(7%),颈部（7％）和鼻咽（3％）。尽管大多数HN-NUT病例（63％）含有原始URC肿瘤的成分，53%显示其他组织学特征，37%完全缺乏URC成分。不同的组织学特征包括基底细胞样（33%），分化鳞状/鳞状（37％），透明细胞变化（13%），腺体分化（7%）和乳头状结构（10%），可以共存。虽然大多数HN-NUT对角蛋白呈阳性，p63和p40，偶发病例（5-9％）完全阴性。在33％和36％的病例中观察到神经内分泌标志物和甲状腺转录因子-1的免疫阳性，分别。HN-NUT的结果令人沮丧，3年疾病特异性生存率为38%。
结论：HN-NUT可以影响广泛年龄范围内的个体，并出现在各种头颈部部位。它表现出不同的组织学特征，并且可能对神经内分泌标志物呈阳性，可能导致诊断不足。执行NUT特定测试的低阈值对于准确诊断HN-NUT是必要的。
