Department of Pathology and Forensic Medicine, Molecular Genetics Laboratory (LABGEM), School of Medicine, Federal University of Ceara, Fortaleza, Brazil.
Department of Pathology, University of Fortaleza / Universidade de Fortaleza, School of Medicine, Fortaleza, Brazil.
Oral Oncol. 2021 May;116:105221. doi: 10.1016/j.oraloncology.2021.105221. Epub 2021 Feb 17.
To identify chromosome deletions in 1q25, 1p36 and 1pTEL, and chromosome 17 ploidy status in oral epithelial dysplasia (OED) and oral squamous cell carcinoma (OSCC).
Samples from 57 OED and 63 OSCC were selected. FISH was performed using centromeric probes 17 and n LSIR 1p36/LSI 1q25 Dual Color Probe.
In OED, deletions were found only in 1pTEL region (29.8%). In OSCC, there was a higher frequency of deletion in 1pTEL (79.4%), followed by 1p36 (73.0%), and 1q25 (20.6%). Advanced TNM clinical stages (III/IV) showed all the deletions studied; at early clinical stages (I/II) of OSCC, deletions were observed only in 1pTEL. The frequency of deletion in 1p36 was 17.0 times higher in OSCC at advanced clinical stages (PR: 17.00). The median number of cell nuclei with chromosome 17 aneuploidy was higher in OSCC than in OED (P < 0.001). Early clinical stages of OSCC showed lower median number nuclei with aneuploidy when compared to advanced tumors (P < 0.05). Tumors harboring deletions in 1p36, 1q25 and 1pTEL revealed higher median numbers of trisomic/polysomic nuclei when compared to lesions exhibiting no abnormalities in chromosome 1 (P < 0.05).
A higher prevalence of chromosomal abnormalities was found in OSCC than in OED, while in OSCC, higher abnormalities were present in lesions with higher TNM staging. 1pTEL deletion and monosomy of chromosome 17 are possible markers for progression of OED to OSCC. 1p36 deletion and trisomy/polysomy of chromosome 17 could be markers of worse prognosis of OSCC.
在口腔上皮异型增生（OED）和口腔鳞状细胞癌（OSCC）中鉴定 1q25、1p36 和 1pTEL 染色体缺失以及 17 号染色体的倍性状态。
选择了 57 例 OED 和 63 例 OSCC 样本。使用染色体着丝粒探针 17 和 nLSIR1p36/LSI1q25 双色探针进行 FISH。
在 OED 中，仅在 1pTEL 区域发现缺失（29.8%）。在 OSCC 中，1pTEL 缺失的频率更高（79.4%），其次是 1p36（73.0%）和 1q25（20.6%）。晚期 TNM 临床分期（III/IV）显示所有研究的缺失；在 OSCC 的早期临床分期（I/II）中，仅观察到 1pTEL 的缺失。晚期临床分期 OSCC 中 1p36 的缺失频率高 17 倍（PR：17.00）。与 OED 相比，OSCC 中染色体 17 非整倍体的核中位数更高（P<0.001）。与晚期肿瘤相比，OSCC 的早期临床分期显示出较低的核中位数非整倍体（P<0.05）。与染色体 1 无异常的病变相比，1p36、1q25 和 1pTEL 缺失的肿瘤显示出更高的三体/多体核中位数（P<0.05）。
与 OED 相比，OSCC 中发现染色体异常的发生率更高，而在 OSCC 中，TNM 分期较高的病变中存在更高的异常。1pTEL 缺失和 17 号染色体单体可能是 OED 向 OSCC 进展的标志物。1p36 缺失和 17 号染色体三体/多体可能是 OSCC 预后不良的标志物。
