Alexiev Borislav A, Behdad Amir, Lu Xinyan, Cheng Esther, Samant Sandeep
Department of Pathology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, 251 East Huron St, Feinberg 7-342A, Chicago, IL 60611, United States.
Department of Pathology, Northwestern University Feinberg School of Medicine, Northwestern Memorial Hospital, 251 East Huron St, Feinberg 7-342A, Chicago, IL 60611, United States.
Pathol Res Pract. 2020 Aug;216(8):152924. doi: 10.1016/j.prp.2020.152924. Epub 2020 Mar 19.
We describe the case of a human papillomavirus-mediated adenocarcinoma of palatine tonsil in a 51-year-old male. Histologically, the tumor exhibited a predominantly cribriform and tubular (glandular) growth of cuboidal and columnar cells with moderate amount of pale eosinophilic cytoplasm and oval or spindled nuclei with finely dispersed or coarse chromatin and small to medium-sized nucleoli. Foci of nuclear anaplasia and multinucleation, numerous mitotic figures, and necrosis (individual-cell and confluent) were seen. No squamous differentiation was identified. The tumor cells showed strong expression of CK7, p16 and HPV E6/E7 mRNA transcripts, and were negative for p40, CK5/6, AR, synaptophysin and chromogranin. Next generation sequencing showed 3 variants of unknown significance: FGF3 p.(R44fs); NF1 p.(S749 L) and POLE p. (S1506 L) with variant allele frequencies of 37 %; 20 %, and 17 % respectively. Chromosomal microarray analysis using single nucleotide polymorphism microarray (OncoScan) assay showed whole chromosomal gains of chromosomes 8 and 19, whole chromosomal losses of chromosomes 2 and 16, as well as segmental gains of chromosomes 3q25.31q29 (encompassing the PIK3CA gene), 17q21.31q25.3, 20p13q13.33, Xq28, and segmental losses of chromosomes 1q32.2, 6p25.1p21.1, 11q23.1q24.1, 12p11.22, 12p11.22, 14q24.1q32.33, 17p13.3q21.31 (encompassing the TP53 and NF1 genes). The results highlight the need to consider HPV testing in non-squamous cell carcinomas of the oropharynx.
我们描述了一名51岁男性腭扁桃体人乳头瘤病毒介导的腺癌病例。组织学上，肿瘤主要呈筛状和管状（腺管样）生长，由立方状和柱状细胞组成，有中等量淡嗜酸性细胞质，细胞核呈椭圆形或梭形，染色质细颗粒状或粗糙，有小到中等大小核仁。可见核间变和多核灶、大量有丝分裂象以及坏死（单个细胞坏死和融合性坏死）。未发现鳞状分化。肿瘤细胞CK7、p16和人乳头瘤病毒E6/E7 mRNA转录本呈强阳性表达，而p40、CK5/6、AR、突触素和嗜铬粒蛋白呈阴性。二代测序显示3个意义未明的变异：FGF3基因p.(R44fs)；NF1基因p.(S749L)和POLE基因p.(S1506L)，变异等位基因频率分别为37%、20%和17%。使用单核苷酸多态性微阵列（OncoScan）分析的染色体微阵列分析显示，8号和19号染色体全染色体增加，2号和16号染色体全染色体丢失，以及3q25.31q29（包含PIK3CA基因）、17q21.31q25.3、20p13q13.33、Xq28染色体节段性增加，1q32.2、6p25.1p21.1、11q23.1q24.1、12p11.22、12p11.22、14q24.1q32.33、17p13.3q21.31（包含TP53和NF1基因）染色体节段性丢失。结果强调了在口咽非鳞状细胞癌中考虑人乳头瘤病毒检测的必要性。
