全外显子组测序鉴定1例黏液样肾上腺皮质癌伴1p缺失。

IF 3.4 4区 医学 Q2 PATHOLOGY
Pathology International Pub Date : 2025-09-01 Epub Date: 2025-08-19 DOI:10.1111/pin.70045
Naomi Sato, Naomi Oka, Taito Itoh, Yuko Omori, Yuto Yamazaki, Hiroyoshi Suzuki, Ryoko Saito-Koyama, Hiroya Rikimaru, Kanako Sakurai, Sanae Midorikawa, Hideo Saito, Zenei Arihara, Toru Furukawa, Yasuhiro Nakamura
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引用次数: 0

摘要

一个57岁的男性接受了意外的左肾上腺肿瘤切除,因为恶性的担忧。肿瘤呈不均匀的黄白色。组织学特征表现为核异型性、弥漫性生长、窦状浸润和大多数间质区粘蛋白沉积,诊断为黏液样肾上腺皮质癌(ACC)。全外显子组测序分析显示1p缺失和其他几个突变,没有TP53和CTNNB1突变。在手术和辅助米托坦治疗后,患者在5年随访中没有复发。黏液样ACC是一种非常罕见的肿瘤,其特征是肿瘤间质中有黏液沉积,具有很高的恶性潜能。尽管在ACC中发现了关键的驱动基因突变,如TP53和CTNNB1,但粘液样ACC的遗传背景仍不清楚。该病例是第一例报道的黏液样ACC伴1p缺失的病例,据报道,在67%的ACC和9%的腺瘤中检测到这种缺失,但在增生中未检测到,支持这种畸变与肿瘤发生的相关性。总之,1p缺失可能与黏液样ACC的肿瘤发生有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Case of Myxoid Adrenocortical Carcinoma With 1p Deletion Identified by Whole Exome Sequencing.

A 57-year-old male underwent an incidental left adrenal tumor resection because of malignancy concerns. The tumor demonstrated a heterogeneous yellowish-white color. Histological features were characterized by nuclear atypia, diffuse growth, sinusoidal invasion, and mucin deposition in most stromal regions, leading to the diagnosis of a myxoid adrenocortical carcinoma (ACC). Whole exome sequencing analysis revealed 1p deletion and other several mutations without TP53 nor CTNNB1 mutations. Following surgery and adjuvant mitotane therapy, the patient showed no recurrence at a 5-year follow-up. Myxoid ACC is an exceedingly rare tumor characterized by mucus deposits in tumor stroma with high malignant potential. Despite the identification of crucial driver gene mutations such as TP53 and CTNNB1 in ACC, the genetic background of the myxoid ACC remains unclear. This case was the first case report of myxoid ACC with a 1p deletion, which was reported to be detected in 67% of ACC and 9% of adenoma but not in hyperplasia, supporting the correlation of this aberration with tumorigenesis. In conclusion, 1p deletion may be relevant to tumorigenesis in myxoid ACC.

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来源期刊
Pathology International
Pathology International 医学-病理学
CiteScore
4.50
自引率
4.50%
发文量
102
审稿时长
12 months
期刊介绍: Pathology International is the official English journal of the Japanese Society of Pathology, publishing articles of excellence in human and experimental pathology. The Journal focuses on the morphological study of the disease process and/or mechanisms. For human pathology, morphological investigation receives priority but manuscripts describing the result of any ancillary methods (cellular, chemical, immunological and molecular biological) that complement the morphology are accepted. Manuscript on experimental pathology that approach pathologenesis or mechanisms of disease processes are expected to report on the data obtained from models using cellular, biochemical, molecular biological, animal, immunological or other methods in conjunction with morphology. Manuscripts that report data on laboratory medicine (clinical pathology) without significant morphological contribution are not accepted.
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