Department of Anatomic Pathology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Department of Pathology, Izuka Hospital, Fukuoka, Japan.
Anticancer Res. 2022 Sep;42(9):4337-4344. doi: 10.21873/anticanres.15934.
BACKGROUND/AIM: Immature teratomas (IMT) are malignant germ cell tumours composed of immature embryonal tissue, mostly neuroectodermal tubules and rosettes. Meanwhile, embryonal tumours with multilayered rosettes (ETMR) are aggressive central nervous system tumours composed of neurocyte proliferation with rosette formation. The histopathological appearance of rosette formation in ETMR is the same as that in IMT. Recently, 19q13.42 amplification was reported as a specific genetic marker of ETMR. The aim of this study was to compare ETMR with IMT from histological, immunohistochemical and genetic perspectives.
We retrospectively analysed tumour samples from 48 patients with IMT and 1 patient with ETMR. We performed fluorescence in situ hybridization (FISH) analysis, which revealed amplification of the 19q13.42 locus in the ETMR case. In addition, immunohistochemical analyses of LIN28A, β-catenin and p53 were performed.
In FISH analysis all 48 cases of IMT showed diploidy. By immunohistochemical analysis, LIN28A expression was observed in 54% of IMT cases (25/48 cases) and in the ETMR case. Nuclear staining of β-catenin was observed in 33% of IMT cases (16/48 cases). Meanwhile, aberrant expression of p53 was not identified in IMT nor ETMR cases.
Genetic changes associated with IMT differ from those in ETMR, but LIN28A protein immunohistochemical expression, which is specific for ETMR, can be a biomarker for the immature neuroepithelial component in IMT.
背景/目的：未成熟畸胎瘤（IMT）是由未成熟胚胎组织组成的恶性生殖细胞肿瘤，主要为神经外胚层小管和玫瑰花结。同时，具有多层玫瑰花结的胚胎性肿瘤（ETMR）是由神经细胞增殖形成玫瑰花结的侵袭性中枢神经系统肿瘤。ETMR 中玫瑰花结形成的组织病理学表现与 IMT 相同。最近，报道 19q13.42 扩增是 ETMR 的特定遗传标志物。本研究旨在从组织学、免疫组织化学和遗传学角度比较 ETMR 和 IMT。
我们回顾性分析了 48 例 IMT 患者和 1 例 ETMR 患者的肿瘤样本。我们进行了荧光原位杂交（FISH）分析，结果显示 ETMR 病例存在 19q13.42 位点的扩增。此外，还进行了 LIN28A、β-catenin 和 p53 的免疫组织化学分析。
在 FISH 分析中，所有 48 例 IMT 均显示为二倍体。通过免疫组织化学分析，LIN28A 表达在 54%的 IMT 病例（48 例中的 25 例）和 ETMR 病例中。33%的 IMT 病例（48 例中的 16 例）观察到β-catenin 的核染色。同时，在 IMT 和 ETMR 病例中均未发现 p53 的异常表达。
与 IMT 相关的遗传变化与 ETMR 不同，但 ETMR 特有的 LIN28A 蛋白免疫组织化学表达可以作为 IMT 不成熟神经上皮成分的生物标志物。
