コヤナギ　アイ   KOYANAGI Ai   小柳　愛    所属   医学部 医学科（附属足立医療センター）    職種   臨床講師
論文種別	症例報告
言語種別	英語
査読の有無	査読あり
表題	A Case of False-Negative Results in the One-Step Nucleic Acid Amplification Assay for Sentinel Lymph Node Metastasis in Breast Cancer with Low Cytokeratin 19 Expression.
掲載誌名	正式名：Case reports in oncology 略　 称：Case Rep Oncol ISSNコード：16626575/16626575
掲載区分	国外
巻・号・頁	18(1),pp.1074-1080
著者・共著者	Ai Koyanagi†, Akinari Kakumoto, Hajime Kuroda, Shogo Baba, Mami Koketsu, Oi Harada, Yasutaka Kato, Hiroshi Nishihara, Hiroyuki Kawami
担当区分	筆頭著者
発行年月	2025/07/02
概要	INTRODUCTION:One-step nucleic acid amplification (OSNA) for the analysis of sentinel lymph nodes is now widely used as a reliable tool for the intraoperative diagnosis of breast cancer metastasis based on the quantification of CK19 mRNA. However, discrepancies have been noted between the molecular diagnosis and histological evaluation, potentially due to differences in tissue sampling or technical limitations. Furthermore, false-negative results may occur when target mRNA expression is reduced.CASE PRESENTATION:We herein describe a 45-year-old female patient who underwent breast-conserving surgery. The final pathological stage after surgery was pT2N1aM0 (stage IIB), hormone receptor positive (HER2: 1+). An OSNA analysis of two sentinel lymph nodes revealed no metastasis, whereas touch imprint cytology of one of the lymph nodes was positive. Immunohistochemistry of the primary tumor showed a mixture of extensive CK19-negative and focal CK19-positive lesions. A genetic analysis of the CK19-negative lesion detected mutations and abnormalities, including the ESR1 amplification, FANCA deletion, STK11 deletion, TSC2 deletion, POLD1 deletion, and mutations in PIK3CA, ARID1A, NF2, SETBP1, and EP300. Of these, tumor heterogeneity and genetic alterations, including mutations in ARID1A, NF2, and EP300, in the CK19-negative lesion were hypothesized to suppress CK19 expression.CONCLUSION:False-negative results are more likely to occur for CK19-negative breast cancer, emphasizing the importance of incorporating complementary diagnostic methods, such as touch imprint cytology and different molecular markers. A multifaceted diagnostic approach is crucial for ensuring accurate staging and appropriate treatment planning.
DOI	10.1159/000546995
PMID	40777750