Pseudoendocrine Sarcoma
Pseudoendocrine Sarcoma
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假性内分泌肉瘤
DOI：
10.1097/pas.0000000000001751
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
C. Fletcher
中科院分区：
文献类型：
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作者：
D. Papke;B. Dickson;L. Sholl;C. Fletcher
补充数字内容可在文本中找到。已识别的上皮样软组织肿瘤的数量持续增加，包括上皮样神经鞘瘤、硬化性上皮样纤维肉瘤和新出现的实体，如GLI 1改变的肉瘤。在这里，我们描述了23例以前未被承认的实体，暂时被称为“假内分泌肉瘤。”摘要假性内分泌肉瘤是一种罕见的肿瘤，好发于老年人的脊椎旁软组织。男性15例（65%），女性8例。就诊时年龄范围为29 - 78岁（中位数：62岁）。19个肿瘤（83%）发生在躯干部位，包括15个肿瘤（65%）发生在椎旁软组织;其他部位包括后头部（2个肿瘤）、大腿（1个）和眼眶（1个）。肿瘤大小范围为2 - 19 cm（中位数：6.35 cm）。假内分泌肉瘤由上皮样或卵圆形细胞的片状、小梁和巢组成，边界不清，细胞质呈淡嗜酸性，细胞核呈高度单形，呈圆形，染色质呈斑点状。16个肿瘤（70%）至少局灶性存在假腺结构，12个肿瘤（52%）发现大的细胞外透明球，8个肿瘤（35%）存在砂粒样钙化。在2个肿瘤中发现了化生骨化，在1个肿瘤中发现了粘液样间质。18例肿瘤中5例（28%）有血管浸润。免疫组织化学显示，大多数肿瘤显示β-连环蛋白核阳性（20/21例肿瘤; 95%），一些肿瘤显示S-100（9/22; 41%）、结蛋白（38; 38%）或CD 34（2/8; 25%）至少灶性阳性。所有肿瘤的神经内分泌和上皮标志物均为阴性，包括突触素（21例肿瘤）、嗜铬粒蛋白（19例）、INSM 1（4例）、pan-K（16例）、CAM 5.2（13例）、AE 1/AE 3（6例）、上皮膜抗原（20例）和E-钙粘蛋白（13例）。DNA测序在所有6个测序的肿瘤中检测到CTNNB 1点突变：D32 H、S33 C、S33 F、S37 A、S37 C和S37 F。在所有6个测序的肿瘤中，RNA测序均为基因融合阴性。17例患者（74%;范围：4个月至20年;中位数：3.5年）进行了临床随访，包括14例随访时间>1年的患者。14例长期随访患者中有6例发生局部复发（43%，间隔3 - 6年）。1例肿瘤在初次切除标本中显示局部淋巴结转移，3例患者发生远处肺转移（21%）。到目前为止，还没有病人死于这种疾病。尽管其形态温和，与分化良好的神经内分泌肿瘤相似，但鉴于其病理特征和临床表现，假内分泌肉瘤最好被认为是中等级别的肉瘤。
Supplemental Digital Content is available in the text. The number of recognized epithelioid soft tissue neoplasms continues to increase and includes epithelioid schwannoma, sclerosing epithelioid fibrosarcoma, and emerging entities such as sarcomas with GLI1 alterations. Here, we describe 23 cases of a previously unrecognized entity, provisionally termed “pseudoendocrine sarcoma.” Pseudoendocrine sarcoma is a rare, distinctive tumor of uncertain lineage with a predilection for paravertebral soft tissue in older adults. Fifteen patients (65%) were male and 8 were female. Age at presentation ranged from 29 to 78 years (median: 62 y). Nineteen tumors (83%) occurred in truncal locations, including 15 tumors (65%) in paravertebral soft tissue; other locations included the posterior head (2 tumors), thigh (1), and orbit (1). Tumor size ranged from 2 to 19 cm (median: 6.35 cm). Pseudoendocrine sarcoma is composed of sheets, trabeculae, and nests of epithelioid or ovoid cells with indistinct borders, palely eosinophilic cytoplasm, and highly monomorphic, round nuclei with speckled chromatin. Pseudoglandular architecture was at least focally present in 16 tumors (70%), large extracellular hyaline globules were identified in 12 tumors (52%), and psammomatous calcifications were present in 8 (35%). Metaplastic ossification was identified in 2 tumors, and myxoid stroma was present in 1. Lymphovascular invasion was present in 5 of 18 tumors (28%). Immunohistochemistry demonstrated that most tumors showed nuclear positivity for β-catenin (20/21 tumors; 95%), and some showed at least focal positivity for S-100 (9/22; 41%), desmin (3/8; 38%), or CD34 (2/8; 25%). All tumors were negative for neuroendocrine and epithelial markers, including synaptophysin (21 tumors), chromogranin (19), INSM1 (4), pan-K (16), CAM5.2 (13), AE1/AE3 (6), epithelial membrane antigen (20), and E-cadherin (13). DNA sequencing detected CTNNB1 point mutations in all 6 sequenced tumors: D32H, S33C, S33F, S37A, S37C, and S37F. RNA sequencing was negative for gene fusions in all 6 sequenced tumors. Clinical follow-up was available for 17 patients (74%; range: 4 mo to 20 y; median: 3.5 y), including 14 patients with >1 year of follow-up. Six of 14 patients with long-term follow-up experienced local recurrence (43%, at intervals of 3 to 6 y). One tumor showed a local lymph node metastasis within the primary excision specimen, and 3 patients developed distant lung metastases (21%). No patient died of the disease as yet. Despite its bland morphology and resemblance to the well-differentiated neuroendocrine tumor, pseudoendocrine sarcoma is best considered an intermediate-grade sarcoma, given its pathologic characteristics and clinical behavior.