胃肠道和肝胆道骨外尤文肉瘤:欺骗性免疫表型常导致误诊

IF 4.5 1区 医学 Q1 PATHOLOGY
American Journal of Surgical Pathology Pub Date : 2024-09-01 Epub Date: 2024-05-17 DOI:10.1097/PAS.0000000000002236
Oyewale Shiyanbola, Recep Nigdelioglu, Deepti Dhall, Iván A González, Laura M Warmke, Shula Schechter, Won-Tak Choi, Shaomin Hu, Lysandra Voltaggio, Yujie Zhang, Tom Z Liang, Huaibin M Ko, Greg W Charville, Teri A Longacre
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引用次数: 0

摘要

尤文肉瘤(ES)是一种不常见的间叶性肿瘤,通常发生在骨块上,但也有高达 30% 的肿瘤发生在骨骼以外的部位。胃肠道(GI)和肝胆道的 ES 比较罕见,可能会被误诊为发生在这些部位的其他更常见的肿瘤。然而,骨外 ES 的正确分类对于及时的临床治疗和预后判断非常重要。我们回顾了我们在消化道和肝胆道 ES 方面的经验,以进一步强调这些肿瘤的临床病理特征,并记录在这种情况下可能出现的误诊。我们对 6 家学术机构的档案和会诊文件进行了回顾性查询,以了解发生在消化道和肝胆道的 ES 病例。对组织学切片和辅助研究进行了审查,并通过电子病历检索了每个病例的临床数据(如果有的话)。从 2000 年到 2022 年,共发现 23 例消化道和/或肝胆道 ES 患者。其中,11 例为女性,12 例为男性,中位年龄为 38 岁(2 至 64 岁不等)。肿瘤位置包括胰腺(5 例)、肝脏(2 例)、胃(3 例)、结直肠(3 例)和小肠(5 例),以及累及多个器官、盆腔和腹膜后(5 例)的肿瘤。肿瘤大小从2厘米到18厘米不等。20例为原发性肿瘤,3例为转移瘤。在 23 个病例中,只有 17% 最初被诊断为 ES。由于突触素和其他神经内分泌标记物的表达,最常见的误诊涉及各种形式的神经内分泌肿瘤(22%)。由于 CD117 的异常表达,包括消化道间质瘤在内的多种诊断也被考虑在内(4%)。有 22 例患者通过检测 EWSR1 重排最终确诊为 ES。其余病例采用传统的免疫组化方法确诊。20例患者获得了随访信息,随访时间从2个月到256个月不等。随访的 6 例患者在初次发病后 6 至 60 个月之间死于疾病。我们的数据表明,消化道和肝胆道 ES 常被误诊,导致治疗延误。鉴于ES对治疗和预后的影响,在鉴别诊断任何具有上皮样和/或小圆形细胞形态的消化道或肝胆肿瘤时都应考虑ES。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Extraskeletal Ewing Sarcoma of the Gastrointestinal and Hepatobiliary Tract: Deceptive Immunophenotype Commonly Leads to Misdiagnosis.

Ewing sarcoma (ES) is an uncommon mesenchymal neoplasm that typically develops as a bone mass, although up to 30% arise in extraskeletal sites. ES of the gastrointestinal (GI) and hepatobiliary tract is rare and may be misdiagnosed as other, more common neoplasms that occur in these sites. However, the correct classification of extraskeletal ES is important for timely clinical management and prognostication. We reviewed our experience of ES in the GI and hepatobiliary tract in order to further highlight the clinicopathologic features of these neoplasms and document the potential for misdiagnosis in this setting. The archives and consultation files of 6 academic institutions were retrospectively queried for cases of ES occurring in the GI and hepatobiliary tract. The histologic slides and ancillary studies were reviewed and clinical data were retrieved for each case through the electronic medical records, when available. Twenty-three patients with ES in the GI and/or hepatobiliary tract were identified from 2000 to 2022. Of these, 11 were women and 12 were men with a median age of 38 years (range, 2 to 64). Tumor locations included the pancreas (n=5), liver (n=2), stomach (n=3), colorectum (n=3), and small intestine (n=5), as well as tumors involving multiple organs, pelvis and retroperitoneum (n=5). Tumor size varied between 2 cm and 18 cm. Twenty were primary and 3 were metastases. Of the 23 cases, only 17% were initially diagnosed as ES. The most common misdiagnoses involved various forms of neuroendocrine neoplasia due to expression of synaptophysin and other neuroendocrine markers (22%). A wide variety of diagnoses including GI stromal tumor was considered due to aberrant CD117 expression (4%). The diagnosis of ES was ultimately confirmed by detection of the EWSR1 rearrangement in 22 cases. The remaining case was diagnosed using traditional immunohistochemistry. Follow-up information was available in 20 cases, with follow-up time varying between 2 and 256 months. Six patients with follow-up died of disease between 6 and 60 months following initial presentation. Our data indicate ES in the GI and hepatobiliary tract is commonly misdiagnosed leading to a delay in therapy. In light of the attendant therapeutic and prognostic implications, ES should be considered in the differential diagnosis of any GI or hepatobiliary tumor with epithelioid and/or small round cell morphology.

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来源期刊
CiteScore
10.30
自引率
5.40%
发文量
295
审稿时长
1 months
期刊介绍: The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities. Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.
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