Department of Pathology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China.
Intelligent Pathology Institute, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, Anhui, China.
J Clin Pathol. 2022 Nov;75(11):776-781. doi: 10.1136/jclinpath-2021-207441. Epub 2021 Aug 4.
To investigate the clinicopathological and molecular characteristics of uterine tumours resembling ovarian sex cord tumours (UTROSCTs) and the value of molecular diversity in the clinical diagnosis and treatment.
Five patients with UTROSCT were enrolled, and their clinical data, pathological morphologies, immunophenotypes and molecular features were analysed. Fluorescence in situ hybridisation for , , , and and next-generation sequencing for 27 homologous recombination/repair (HRR) pathway genes were performed on five and three UTROSCT specimens, respectively.
All five patients were treated for abnormal uterine bleeding and grossly presented with intrauterine polyps. Under a microscope, tumour cells grew diffusely and presented a cordlike arrangement and glandular duct-like structures, with nuclei ranging from round to oval, vesicular chromatin and visible nucleoli in some cases. The mitotic count was less than 3/10 high-power fields. Immunohistochemistry showed sex cord, epithelial cell and smooth muscle cell biomarkers and diffuse, strong staining for B cell lymphoma-2 (BCL-2). and rearrangements were identified in 80% (4/5) of the cases. and rearrangements were not detected in any of five patients. HRR pathway gene mutations were detected in all three patients, including , and mutations in one case each.
UTROSCT is a rare mesenchymal tumour, and biopsy specimens are easily misdiagnosed. UTROSCT diagnosis requires the combined use of biomarkers and molecular detection. BCL-2 has potential diagnostic value as a marker. UTROSCT can have mutations related to the HRR pathway, suggesting that this tumour type may be sensitive to platinum/poly (ADP-ribose) polymerase inhibitors.
研究类似于卵巢性索肿瘤的子宫肿瘤（UTROSCT）的临床病理和分子特征，以及分子多样性在临床诊断和治疗中的价值。
纳入 5 例 UTROSCT 患者，分析其临床资料、病理形态、免疫表型和分子特征。对 5 例 UTROSCT 标本分别进行荧光原位杂交检测、和 ，以及对 3 例 UTROSCT 标本进行下一代测序检测 27 个同源重组/修复（HRR）途径基因。
所有 5 例患者均因异常子宫出血就诊，大体上呈宫腔内息肉样表现。镜下，肿瘤细胞弥漫性生长，呈条索状排列，有腺样导管样结构，细胞核呈圆形至椭圆形，泡状染色质，部分病例可见明显核仁。核分裂象数＜3/10 高倍视野。免疫组化显示性索、上皮细胞和平滑肌细胞标志物，弥漫、强烈表达 B 细胞淋巴瘤-2（BCL-2）。80%（4/5）的病例中存在 和 重排。5 例患者中均未检测到 和 重排。所有 3 例患者均检测到 HRR 途径基因突变，包括 1 例患者存在 、 和 突变。
UTROSCT 是一种罕见的间叶性肿瘤，活检标本易误诊。UTROSCT 诊断需要结合标志物和分子检测。BCL-2 作为标志物具有潜在的诊断价值。UTROSCT 可能存在与 HRR 途径相关的突变，提示该肿瘤类型可能对铂类/聚（ADP-核糖）聚合酶抑制剂敏感。
