Division of Women's and Perinatal Pathology, Department of Pathology, Brigham and Women's Hospital, Boston, MA, USA.
Department of Pathology, University of Michigan - Michigan Medicine, Ann Arbor, MI, USA.
Mod Pathol. 2022 Jan;35(1):106-116. doi: 10.1038/s41379-021-00946-z. Epub 2021 Oct 21.
A subset of clinically benign uterine polyps shows atypical morphologic features worrisome for, but not diagnostic of, Mullerian adenosarcoma. We report clinicopathologic data for 63 polyps from 58 women with atypical morphologic features including abnormal architecture, abnormal periglandular stroma, stromal atypia, and mitoses >2 per 10 hpf. Four (11%) of 36 women with follow-up tissue sampling had residual/recurrent atypical polyp. Twelve (27%) of 44 women underwent hysterectomy subsequent to a diagnosis of atypical polyp. No patient developed adenosarcoma over median follow-up of 150 months. Twenty-one primary atypical polyps underwent molecular profiling. Five (24%) harbored chr 12q13-15 gain or amplification, 9/20 (45%) harbored chr 6q25.1 gain, and 7/21 (33%) had no significant copy number alterations. Gains of chr 1q, chr 8p12, and chr 10q11.21-23, amplifications of chr 12q24.12-13, chr 15p24.1-26.1, and chr 18q21.33, and loss of chr 7 and chr 11q21 were each seen in a single polyp. Mean tumor mutational burden was 3.1 (range, 0.76-8.365) mutations/Mb. Pathogenic point mutations were identified in 12/20 (60%) primary atypical polyps. We propose the term "atypical uterine polyps" for these lesions, which show biologic overlap with early Mullerian adenosarcoma but lack molecular alterations characteristic of clinically aggressive adenosarcoma and appear to follow a benign clinical course. Conservative management with close clinical follow-up and repeat sampling can be considered for these lesions, when clinically appropriate.
一组临床上良性的子宫息肉显示出非典型形态特征，这些特征令人担忧，但不能诊断为 Müllerian 腺肉瘤。我们报告了 58 名女性的 63 个息肉的临床病理数据，这些息肉具有非典型形态特征，包括异常结构、异常周围腺体间质、间质非典型性和每 10 个高倍视野中 >2 个有丝分裂。在有随访组织取样的 36 名女性中，有 4 名（11%）有残留/复发性非典型息肉。在诊断为非典型息肉后，有 12 名（27%）女性接受了子宫切除术。在中位随访 150 个月期间，没有患者发生腺肉瘤。21 个原发性非典型息肉进行了分子谱分析。5 个（24%）息肉存在 chr12q13-15 增益或扩增，9/20（45%）息肉存在 chr6q25.1 增益，7/21（33%）息肉没有明显的拷贝数改变。chr1q、chr8p12 和 chr10q11.21-23 的增益、chr12q24.12-13、chr15p24.1-26.1 和 chr18q21.33 的扩增以及 chr7 和 chr11q21 的缺失，在单个息肉中均可见。平均肿瘤突变负担为 3.1（范围为 0.76-8.365）突变/Mb。在 20 个原发性非典型息肉中有 12 个（60%）发现了致病性点突变。我们建议将这些病变命名为“非典型子宫息肉”，它们与早期 Müllerian 腺肉瘤具有生物学重叠，但缺乏临床上侵袭性腺肉瘤的分子改变，并且似乎遵循良性临床过程。在临床适当的情况下，可以考虑对这些病变进行保守管理，包括密切的临床随访和重复取样。
