{"title":"A Case of Myxoid Adrenocortical Carcinoma With 1p Deletion Identified by Whole Exome Sequencing.","authors":"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","doi":"10.1111/pin.70045","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":19806,"journal":{"name":"Pathology International","volume":" ","pages":"471-477"},"PeriodicalIF":3.4000,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pathology International","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1111/pin.70045","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/8/19 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
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.