滤泡性甲状腺腺瘤与滤泡性甲状腺癌——共同背景还是不同背景？综合微阵列研究中的杂合性缺失

Follicular Thyroid Adenoma and Follicular Thyroid Carcinoma-A Common or Distinct Background? Loss of Heterozygosity in Comprehensive Microarray Study.

作者信息

Borowczyk Martyna, Dobosz Paula, Szczepanek-Parulska Ewelina, Budny Bartłomiej, Dębicki Szymon, Filipowicz Dorota, Wrotkowska Elżbieta, Oszywa Michalina, Verburg Frederik A, Janicka-Jedyńska Małgorzata, Ziemnicka Katarzyna, Ruchała Marek

机构信息

Department of Endocrinology, Metabolism and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.

Department of Medical Simulation, Poznan University of Medical Sciences, 60-806 Poznan, Poland.

出版信息

Cancers (Basel). 2023 Jan 19;15(3):638. doi: 10.3390/cancers15030638.

DOI:10.3390/cancers15030638

PMID:36765597

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9913827/

Abstract

Pre- and postsurgical differentiation between follicular thyroid adenoma (FTA) and follicular thyroid cancer (FTC) represents a significant diagnostic challenge. Furthermore, it remains unclear whether they share a common or distinct background and what the mechanisms underlying follicular thyroid lesions malignancy are. The study aimed to compare FTA and FTC by the comprehensive microarray and to identify recurrent regions of loss of heterozygosity (LOH). We analyzed formalin-fixed paraffin-embedded (FFPE) samples acquired from 32 Caucasian patients diagnosed with FTA (16) and FTC (16). We used the OncoScan™ microarray assay (Affymetrix, USA), using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP). The total number of LOH was higher in FTC compared with FTA (18 vs. 15). The most common LOH present in 21 cases, in both FTA (10 cases) and FTC (11 cases), was 16p12.1, which encompasses many cancer-related genes, such as , and was followed by 3p21.31. The only LOH present exclusively in FTA patients (56% vs. 0%) was 11p11.2-p11.12. The alteration which tended to be detected more often in FTC (6 vs. 1 in FTA) was 12q24.11-q24.13 overlapping , MYL2, genes. FTA and FTC may share a common genetic background, even though differentiating rearrangements may also be detected.

摘要

甲状腺滤泡性腺瘤（FTA）和甲状腺滤泡癌（FTC）术前及术后的鉴别是一项重大的诊断挑战。此外，它们是否具有共同或不同的背景以及甲状腺滤泡性病变恶性变的潜在机制仍不清楚。本研究旨在通过综合微阵列比较FTA和FTC，并确定杂合性缺失（LOH）的复发区域。我们分析了从32例被诊断为FTA（16例）和FTC（16例）的白种人患者获取的福尔马林固定石蜡包埋（FFPE）样本。我们使用OncoScan™微阵列分析（美国Affymetrix公司），采用高度多重的分子倒置探针检测单核苷酸多态性（SNP）。与FTA相比，FTC中LOH的总数更高（18个对15个）。在21例病例中最常见的LOH，FTA（10例）和FTC（11例）中均有，是16p12.1，其包含许多癌症相关基因，如，其次是3p21.31。仅在FTA患者中出现的唯一LOH（56%对0%）是11p11.2 - p11.12。在FTC中倾向于更频繁检测到的改变（FTA中为6例对1例）是12q24.11 - q24.13重叠、MYL2、基因。FTA和FTC可能具有共同的遗传背景，尽管也可能检测到鉴别性重排。