14 例成人肾 MEST 中，5 例检出整条 12 号染色体获得；该改变并非完全敏感或特异。本文仅据 PubMed 摘要，未采集全文。
摘要
混合性上皮和间质肿瘤（MEST），包括成人囊性肾瘤（CN），是一种少见的良性肾肿瘤，多见于中年女性。迄今尚未对 MEST 和 / 或成人 CN 进行全面的分子遗传学研究。本研究从存档病例中确定 14 例 MEST，并开展全面的临床病理及分子特征分析。所有患者均为女性，中位年龄 49 岁（范围 35–82 岁）；肿瘤显示温和的上皮性腺体、肾小管样结构和囊腔，以不同比例混合分布于卵巢型梭形细胞间质中。
通过二代测序（5 例）及核型分析（1 例），共在 6/14（42.9%）例 MEST 中检出拷贝数改变（CNA）。5/14（35.7%）例存在整条 12 号染色体的相对获得。其中 2 例仅见 12 号染色体获得，另 3 例还伴有其他非反复出现的拷贝数改变。1 例无 12 号染色体获得的肿瘤，存在整条 8 号染色体的相对获得及 21 号染色体丢失。未发现具有临床可干预意义的改变，肾肿瘤相关基因（如 VHL、FH、SDHA/B/D、ELOC、TFEB、TFE3、DICER1、MET、MTOR 及 TSC1/2）亦未见改变。
13 例获得随访，中位随访时间 81.2 个月，术后均未发现复发。尽管 12 号染色体获得并非完全敏感或特异，这仍是 MEST 存在反复性遗传改变的首个证据，支持将其归类为肿瘤。
PubMed abstract only; full text was not collected.
Abstract
Mixed epithelial and stromal tumor (MEST), including adult cystic nephroma (CN), is an uncommon benign renal neoplasm that mostly occurs in middle-aged women. To date, a comprehensive molecular genetic investigation of MEST and/or adult CN has not been performed. Fourteen archival cases of MEST were identified, and comprehensive clinicopathologic and molecular characterization was performed. Tumors arose only in female patients (median: 49 y, range: 35 to 82 y) and showed variable admixtures of bland epithelial glands, tubules, and cysts within an ovarian-type spindle cell stroma. In total, copy number alterations (CNAs) were detected in 6/14 (42.9%) MEST by next-generation sequencing (N=5) and karyotype (N=1). Relative whole-chromosome gains of chromosome 12 were identified in 5/14 (35.7%) MESTs. Two cases showed gains on chromosome 12 alone. Three cases with chromosome 12 gains harbored additional nonrecurrent CNAs. A single case without chromosome 12 gain harbored a relative whole-chromosome gain of chromosome 8 and loss of chromosome 21. No clinically actionable alterations were identified, and there were no alterations in renal neoplasia-related genes (eg, VHL, FH, SDHA/B/D, ELOC, TFEB, TFE3, DICER1, MET, MTOR, and TSC1/2). Of 13 cases with follow-up (median: 81.2 mo), no recurrences were identified after surgery. Although not entirely sensitive nor specific, chromosome 12 gain is the first evidence of recurrent alterations in MEST, supporting its classification as a neoplasm.