{"title":"子宫腺肉瘤:组织学分类和 SNP 阵列分析的临床意义","authors":"Carine Ngo , Sophie Cotteret , Imène Deneche , Maria Kfoury , Randa Chehab , Alicia Tran-Dien , Julien Vibert , Alexandra Leary , Sébastien Gouy , Amandine Maulard , Philippe Morice , Jean-Yves Scoazec , Patricia Pautier , Catherine Genestie","doi":"10.1016/j.humpath.2024.04.016","DOIUrl":null,"url":null,"abstract":"<div><p>Mullerian adenosarcoma is a rare malignant biphasic tumor. The mesenchymal component may be low or high grade, with or without sarcomatous overgrowth (SO). Little is known about the molecular heterogeneity of these tumors. In this study, we aim to reclassify a large retrospective monocentric cohort of uterine adenosarcomas according to tumor grade and SO, to evaluate the clinical significance of pathological classification and to correlate with copy-number variations inferred from single nucleotide polymorphism array. Of the 67 uterine adenosarcomas, 18 (26.9%) were low grade without SO, 7 (10.4%) low grade with SO, 8 (11.9%) high grade without SO and 34 (50.7%) high grade with SO. SO, necrosis and RMS were more frequent in high grade than low grade adenosarcomas (p < 0.001). Low-rank test showed that recurrence-free survival was significantly shortened in high grade than low grade adenosarcomas (p = 0.035) and SO was associated with shortened overall and recurrence-free survival (p = 0.038 and p = 0.009, respectively). High-grade tumors displayed complex genomic profiles with multiple segmental losses including <em>TP53</em>, <em>ATM</em> and <em>PTEN</em> genes. The median genomic index was significantly higher in high grade than low grade tumors (27 [3–60] vs 5,3 [0–16], p < 0.0001) and was significantly higher in presence of SO in low grade tumors (12,8 [10–16] vs 2,6 [0–10], p = 0.0006). We propose to report sarcomatous overgrowth with the tumor grade for prognostication in adenosarcoma and representative sampling is crucial for evaluation of these histological criteria.</p></div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":null,"pages":null},"PeriodicalIF":2.7000,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Uterine adenosarcoma: Clinical significance of histological classification and SNP array analysis\",\"authors\":\"Carine Ngo , Sophie Cotteret , Imène Deneche , Maria Kfoury , Randa Chehab , Alicia Tran-Dien , Julien Vibert , Alexandra Leary , Sébastien Gouy , Amandine Maulard , Philippe Morice , Jean-Yves Scoazec , Patricia Pautier , Catherine Genestie\",\"doi\":\"10.1016/j.humpath.2024.04.016\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Mullerian adenosarcoma is a rare malignant biphasic tumor. The mesenchymal component may be low or high grade, with or without sarcomatous overgrowth (SO). Little is known about the molecular heterogeneity of these tumors. In this study, we aim to reclassify a large retrospective monocentric cohort of uterine adenosarcomas according to tumor grade and SO, to evaluate the clinical significance of pathological classification and to correlate with copy-number variations inferred from single nucleotide polymorphism array. Of the 67 uterine adenosarcomas, 18 (26.9%) were low grade without SO, 7 (10.4%) low grade with SO, 8 (11.9%) high grade without SO and 34 (50.7%) high grade with SO. SO, necrosis and RMS were more frequent in high grade than low grade adenosarcomas (p < 0.001). Low-rank test showed that recurrence-free survival was significantly shortened in high grade than low grade adenosarcomas (p = 0.035) and SO was associated with shortened overall and recurrence-free survival (p = 0.038 and p = 0.009, respectively). High-grade tumors displayed complex genomic profiles with multiple segmental losses including <em>TP53</em>, <em>ATM</em> and <em>PTEN</em> genes. The median genomic index was significantly higher in high grade than low grade tumors (27 [3–60] vs 5,3 [0–16], p < 0.0001) and was significantly higher in presence of SO in low grade tumors (12,8 [10–16] vs 2,6 [0–10], p = 0.0006). We propose to report sarcomatous overgrowth with the tumor grade for prognostication in adenosarcoma and representative sampling is crucial for evaluation of these histological criteria.</p></div>\",\"PeriodicalId\":13062,\"journal\":{\"name\":\"Human pathology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":2.7000,\"publicationDate\":\"2024-04-28\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Human pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S0046817724000832\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human pathology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0046817724000832","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
穆勒氏腺肉瘤是一种罕见的双相恶性肿瘤。间质成分可能是低级别或高级别,伴有或不伴有肉瘤过度生长(SO)。人们对这些肿瘤的分子异质性知之甚少。在这项研究中,我们旨在根据肿瘤分级和SO对一个大型回顾性单中心子宫腺肉瘤队列进行重新分类,评估病理分类的临床意义,并与单核苷酸多态性阵列推断出的拷贝数变异进行关联分析。在67例子宫腺肉瘤中,18例(26.9%)为无SO的低分级,7例(10.4%)为有SO的低分级,8例(11.9%)为无SO的高级别,34例(50.7%)为有SO的高级别。与低级别腺肉瘤相比,高级别腺肉瘤中SO、坏死和RMS的发生率更高(P <0.001)。低秩检验显示,高级别腺肉瘤的无复发生存期明显短于低级别腺肉瘤(p = 0.035),SO与总生存期和无复发生存期的缩短有关(分别为p = 0.038和p = 0.009)。高级别肿瘤显示出复杂的基因组图谱,存在多个节段性缺失,包括TP53、ATM和PTEN基因。高分级肿瘤的中位基因组指数明显高于低分级肿瘤(27 [3-60] vs 5,3 [0-16],p <0.0001),低分级肿瘤中出现 SO 的中位基因组指数明显高于高分级肿瘤(12,8 [10-16] vs 2,6 [0-10],p = 0.0006)。我们建议将肉瘤过度生长与肿瘤分级一起报告,用于腺肉瘤的预后评估,而代表性取样对于评估这些组织学标准至关重要。
Uterine adenosarcoma: Clinical significance of histological classification and SNP array analysis
Mullerian adenosarcoma is a rare malignant biphasic tumor. The mesenchymal component may be low or high grade, with or without sarcomatous overgrowth (SO). Little is known about the molecular heterogeneity of these tumors. In this study, we aim to reclassify a large retrospective monocentric cohort of uterine adenosarcomas according to tumor grade and SO, to evaluate the clinical significance of pathological classification and to correlate with copy-number variations inferred from single nucleotide polymorphism array. Of the 67 uterine adenosarcomas, 18 (26.9%) were low grade without SO, 7 (10.4%) low grade with SO, 8 (11.9%) high grade without SO and 34 (50.7%) high grade with SO. SO, necrosis and RMS were more frequent in high grade than low grade adenosarcomas (p < 0.001). Low-rank test showed that recurrence-free survival was significantly shortened in high grade than low grade adenosarcomas (p = 0.035) and SO was associated with shortened overall and recurrence-free survival (p = 0.038 and p = 0.009, respectively). High-grade tumors displayed complex genomic profiles with multiple segmental losses including TP53, ATM and PTEN genes. The median genomic index was significantly higher in high grade than low grade tumors (27 [3–60] vs 5,3 [0–16], p < 0.0001) and was significantly higher in presence of SO in low grade tumors (12,8 [10–16] vs 2,6 [0–10], p = 0.0006). We propose to report sarcomatous overgrowth with the tumor grade for prognostication in adenosarcoma and representative sampling is crucial for evaluation of these histological criteria.
期刊介绍:
Human Pathology is designed to bring information of clinicopathologic significance to human disease to the laboratory and clinical physician. It presents information drawn from morphologic and clinical laboratory studies with direct relevance to the understanding of human diseases. Papers published concern morphologic and clinicopathologic observations, reviews of diseases, analyses of problems in pathology, significant collections of case material and advances in concepts or techniques of value in the analysis and diagnosis of disease. Theoretical and experimental pathology and molecular biology pertinent to human disease are included. This critical journal is well illustrated with exceptional reproductions of photomicrographs and microscopic anatomy.