Histologic review

  • 文章类型: Journal Article
    目的:卵巢肿瘤在儿童人群中是罕见的。儿童和成人之间亚型的发生率和频率不同。尽管并非所有肿瘤都具有侵袭性,它们仍然可能导致发病。这项研究的目的是全面审查在瑞典诊断和注册的儿童和青少年的恶性卵巢肿瘤。
    方法:通过国家癌症登记处的搜索确定个体,仅限0-19岁,1970-2014年。检索并审查了来自区域生物库的存储的肿瘤诊断材料。
    结果:该研究包括345例卵巢肿瘤患者,其中70.7%的患者在诊断时年龄在15至19岁之间。没有发现发病率随时间或地理位置的差异。平均随访时间为21.2年,5年生存率为88.4%。不同时期的生存率相似,除了1970-1979年。260例可以进行审查,导致85个上皮肿瘤,121个GCT,47个SCSTs和其他7个。对于0-4岁的SCST占主导地位(85.7%),在5-9年和10-14年的GCT中占主导地位(分别为70,8%和75.0%),年龄为15-19岁的上皮性肿瘤占主导地位(43.8%)。复查诊断和原始诊断之间有很强的一致性(科恩κ0.944)。区分性索基质组内的实体构成了最大的诊断挑战。
    结论:儿童和青少年卵巢肿瘤是罕见的,在发病率和频率方面与成人卵巢肿瘤不同。原始诊断和审查诊断之间存在很强的一致性。最大的诊断困难是上皮肿瘤的分型和SCST组中肿瘤的区分。
    Ovarian tumors in the pediatric population are rare. The incidence and frequency of subtypes differ between children and adults. Although not all tumors are aggressive, they may still lead to morbidity. The goal of this study was a comprehensive review of malignant ovarian tumors in children and adolescents diagnosed and registered in Sweden.
    Individuals were identified through a search in the National Cancer Register, limited for ages 0-19, years 1970-2014. Stored tumor diagnostic material from regional biobanks was retrieved and reviewed.
    The study includes 345 individuals with ovarian tumors and 70.7% of them were between 15 and 19 years at time of diagnosis. No differences in incidence over time or geographic location were identified. The average follow-up time was 21.2 years and 5-year survival was 88.4%. Survival was similar in the different time periods, except for 1970-1979. Review was possible for 260 cases, resulting in 85 epithelial tumors, 121 GCTs, 47 SCSTs and 7 others. For age 0-4 years SCSTs dominated (85.7%), for 5-9- and 10-14-years GCTs dominated (70,8% and 75.0% respectively), and for age 15-19 years epithelial tumors dominated (43.8%). There was a strong agreement between review diagnosis and original diagnosis (Cohen\'s κ 0.944). Differentiating between entities within the sex cord-stromal group posed the biggest diagnostic challenge.
    Ovarian tumors in children and adolescents are rare and distinct from their adult counterparts regarding incidence and frequency. There was a strong concurrence between original and review diagnoses. The greatest diagnostic difficulty was subtyping of epithelial tumors and differentiating between tumors within the SCST group.
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  • 文章类型: Journal Article
    基因组技术为解决NSCLC中区分独立原发肿瘤和肺内转移的临床难题提供了有希望的机制。与目前的标准组织学审查相比,我们评估了染色体重排的不一致定位体细胞连接在诊断转移性疾病中的实用性。
    对从37例多发性肺癌的76种不同肿瘤中提取的DNA进行配对测序。评估每种肿瘤的不一致作图连接和染色体拷贝水平。在这些病例中,有22例可用血液来源的DNA进行种系评估。另外对来自17名患者的肿瘤对进行肺癌下一代测序小组。
    而配对测序能够对所有肿瘤对的谱系进行分类,在33例(27%)相同组织学肿瘤对比较中,有9例组织学检查出现谱系错误分类.基于审查病理学家之间的分歧,在7例中,组织病理学谱系被分类为不确定。在两种情况下,病理学家同意转移呼叫,没有发现表明独立初选的共享交叉点。尽管通过算法滤波器的种系连接很常见,平均不到3只存在,并且都有可预测的小病灶重排或转座子结构.通过肺癌下一代测序小组评估共享染色体拷贝变化和驱动突变,虽然信息丰富,在所有情况下调用谱系都是不确定的。
    肺癌中染色体重排的高度独特的性质和普遍性为多灶性肺癌中的谱系调用提供了有用和确定的技术。
    Genomic technologies present a promising mechanism of resolving the clinical dilemma of distinguishing independent primary tumors from intrapulmonary metastases in NSCLC. We evaluated the utility of discordant mapping somatic junctions from chromosomal rearrangements in diagnosing metastatic disease compared to the current standard histologic review.
    Mate-pair sequencing was performed on DNA extracted from 76 distinct tumors from 37 cases of multiple lung cancers. Discordant mapping junctions and chromosomal copy levels were assessed for each tumor. Blood-derived DNA was available on 22 of these cases for germline assessments. A lung cancer next-generation sequencing panel was additionally performed on tumor pairs from 17 patients.
    Whereas mate-pair sequencing was able to classify lineage in all tumor pairs, histologic review appeared to misclassify lineage in 9 of 33 (27%) same-histology tumor pair comparisons. Based on disagreement between the reviewing pathologists, histopathologic lineage was classified as indeterminate in seven cases. In two cases where pathologists agreed on a metastatic call, no shared junctions were found suggesting independent primaries. Although germline junctions passing algorithmic filters were common, on average less than three were present and all had predictable structures of small focal rearrangements or transposons. Evaluation of shared chromosomal copy changes and driver mutations through a lung cancer next-generation sequencing panel, while informative, were nondefinitive in calling lineage in all cases.
    The highly unique nature and prevalence of chromosomal rearrangement in lung cancers provide a useful and definitive technique for calling lineage in multifocal lung cancer.
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