Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
Department of Pharmacology and Regenerative Medicine, University of Illinois at Chicago, Chicago, IL, USA.
Head Neck Pathol. 2023 Jun;17(2):487-497. doi: 10.1007/s12105-023-01538-w. Epub 2023 Feb 28.
Sinonasal adenosquamous carcinoma is rare, and there are almost no studies detailing morphology or characterizing their genetic driver events. Further, many authors have termed sinonasal tumors with combined squamous carcinoma and glands as mucoepidermoid carcinoma but none have analyzed for the presence of MAML2 rearrangement.
Cases from 2014 to 2020 were collected and diagnosed using World Health Organization criteria. They were tested for p16 expression by immunohistochemistry (70% cut-off), DEK::AFF2 fusion by fluorescence in situ hybridization (FISH) and AFF2 immunohistochemistry, MAML2 rearrangement by FISH, and low- and high-risk HPV by RNA ISH and reverse transcription PCR, respectively. Detailed morphology and clinical features were reviewed.
There were 7 male (64%) and 4 female (36%) patients with a median age of 69 years, most Caucasian (10 of 11 or 91%). Most had tobacco exposure (8/11, 73%) and most presented with epistaxis, a visible nasal mass, and/or facial pain. Several had a precursor papillomas (3 of 11, 27%). The squamous component had variable keratinization, 5 of 11 (46%) of which would be described as keratinizing, 3 non-keratinizing, and 2 with mixed features. All had gland formation, by definition, and 2 of 11 (18%) had ciliated tumor cells. None of the 11 cases had MAML2 rearrangement and one had DEK::AFF2 fusion with associated positive nuclear AFF2 protein immunostaining. Most were p16 positive (7 of 11, 64%) and all 7 of these were hrHPV positive either by RNA ISH or RT-PCR. Two of the p16-negative tumors were positive for lrHPV by RNA ISH. Treatment included surgery alone (4 of 11, 36%), surgery with adjuvant radiation (5 of 11, 45%), and surgery with radiation and chemotherapy (2 of 11, 18%). Four of 11 patients (36%) suffered disease recurrence, two requiring re-operation and who were disease free at last follow-up, one receiving additional chemotherapy and who was alive with disease. The other elected to undergo palliative therapy and died of disease.
Sinonasal adenosquamous carcinoma is a somewhat heterogeneous tumor not infrequently arising ex papilloma and having various drivers including high- and low-risk HPV and rarely DEK::AFF2 fusion. The prognosis appears favorable when proper treatment is possible.
鼻窦内的腺样鳞状细胞癌较为罕见，几乎没有研究详细描述其形态或特征性的遗传驱动事件。此外，许多作者将同时具有鳞状细胞癌和腺体的鼻窦肿瘤命名为黏液表皮样癌，但没有作者分析是否存在 MAML2 重排。
收集了 2014 年至 2020 年的病例，并根据世界卫生组织的标准进行诊断。通过免疫组织化学（70%截点）检测 p16 的表达、荧光原位杂交（FISH）和 AFF2 免疫组化检测 DEK::AFF2 融合、FISH 检测 MAML2 重排、RNAISH 和逆转录 PCR 检测低危型和高危型 HPV。回顾了详细的形态学和临床特征。
11 例患者中，男性 7 例（64%），女性 4 例（36%），中位年龄 69 岁，大多数为白种人（11 例中的 10 例，91%）。大多数有烟草暴露（11 例中的 8 例，73%），大多数表现为鼻出血、可见的鼻腔肿块和/或面部疼痛。一些患者有前驱性乳头状瘤（11 例中的 3 例，27%）。鳞状成分有不同程度的角化，11 例中的 5 例（46%）被描述为角化型，3 例非角化型，2 例具有混合特征。所有病例均有腺体形成，根据定义，11 例中有 2 例有纤毛肿瘤细胞。11 例中均无 MAML2 重排，1 例有 DEK::AFF2 融合，伴有核 AFF2 蛋白免疫染色阳性。大多数 p16 阳性（11 例中的 7 例，64%），其中 7 例均为高危型 HPV 通过 RNAISH 或 RT-PCR 阳性。2 例 p16 阴性的肿瘤通过 RNAISH 检测呈低危型 HPV 阳性。治疗包括单纯手术（11 例中的 4 例，36%）、手术联合辅助放疗（11 例中的 5 例，45%）和手术联合放疗及化疗（11 例中的 2 例，18%）。11 例患者中有 4 例（36%）出现疾病复发，2 例需要再次手术，最后一次随访时无疾病，1 例接受了额外的化疗，目前疾病仍处于缓解状态。另一位患者选择了姑息治疗，最终死于疾病。
鼻窦内的腺样鳞状细胞癌是一种具有一定异质性的肿瘤，并非罕见，常源于乳头状瘤，具有多种驱动因素，包括高危型和低危型 HPV，罕见情况下存在 DEK::AFF2 融合。在可能进行适当治疗的情况下，其预后似乎良好。
