目的:皮肤合胞体肌上皮瘤(CSM)是一种罕见的皮肤肌上皮瘤,其特征是梭形细胞的皮内合胞体生长,具有不同的EMA免疫表型和S100阳性,角蛋白表达不频繁。虽然CSM最初被描述为皮肤肿瘤,此后在骨骼中报告了奇异的非皮肤病例。我们旨在通过一项大型多机构研究,在所有解剖部位调查该变异的临床病理特征。
结果:我们从我们的档案中收集了24个有合胞体生长的肌上皮瘤。肿瘤发生在12名男性和12名女性患者中(M:F=1:1),平均年龄为31岁(范围,9-69岁)。虽然大多数肿瘤(75%,n=18)发生在皮肤中,一个重要的子集(25%,n=6)出现在非皮肤部位,包括骨(n=3),支气管/气管(n=2),胫腓骨骨间膜(n=1)。肿瘤大小0.4~5.9cm。临床随访(7例患者;范围14-202个月;中位数56.5个月)显示皮肤切除不完全后8年有一次局部复发,但没有转移;所有患者在最后一次随访时都活着,没有疾病的证据。组织学上,所有肿瘤在低功率下都是粉红色的,其特征是杂色卵圆形的合胞体生长,纺锤,或组织细胞样细胞,具有嗜酸性细胞质和突出的血管周围淋巴浆细胞炎症。三分之一表现为脂肪细胞化生(8/24)。观察到罕见的细胞学异型性,但与有丝分裂活性增加无关。所有肿瘤均表达S100、SMA、和/或EMA。大多数情况下没有角蛋白表达。16例进行了分子分析,所有显示EWSR1-重排。总的来说,15/15(100%)具有EWSR1::PBX3融合,而1例EWSR1FISH是唯一进行的分子研究。
结论:合胞体性肌上皮瘤是一种罕见但可识别的形态变异型肌上皮瘤,可能好发于皮肤,但也发生于不同的非皮肤部位。我们的系列提供了支持重新评估皮肤合胞肌上皮瘤的证据,“在我们的系列中,25%的患者出现了非皮肤肿瘤;因此,我们提出术语"合胞体肌上皮瘤"是为了帮助病理学家识别和避免在提到非皮肤的例子时可能混淆的术语。合胞体性肌上皮瘤的行为,无论是出现在皮肤或非皮肤部位,是惰性的,可能是良性的,局部复发的能力很小。
OBJECTIVE: Cutaneous syncytial myoepithelioma (CSM) is a rare myoepithelioma variant of skin, characterized by intradermal syncytial growth of spindle cells with a distinct immunophenotype of EMA and S100 positivity and infrequent keratin expression. While CSM was first described as a cutaneous tumor, singular non-cutaneous cases have since been reported in bone. We aimed to investigate the clinicopathological features of this variant across all anatomic sites through a large multi-institutional study.
RESULTS: We complied a total of 24 myoepitheliomas with syncytial growth from our files. The tumors occurred in 12 male and 12 female patients (M:F = 1:1), with a median age of 31 years (range, 9-69 years). While the majority of tumors (75%, n = 18) occurred in skin, a significant subset (25%, n = 6) arose in non-cutaneous sites, including bone (n = 3), bronchus/trachea (n = 2), and interosseous membrane of tibia/fibula (n = 1). Tumor size ranged from 0.4 to 5.9 cm. Clinical follow-up (7 patients; range 14-202 months; median 56.5 months) showed a single local recurrence 8 years after incomplete skin excision but no metastases; all patients were alive at the time of last follow-up without evidence of disease. Histologically, all tumors were pink at low-power and characterized by a syncytial growth of bland ovoid, spindled, or histiocytoid cells with eosinophilic cytoplasm and prominent perivascular lymphoplasmacytic inflammation. One-third displayed adipocytic metaplasia (8/24). Rare cytologic atypia was seen but was not associated with increased mitotic activity. All tumors expressed S100, SMA, and/or EMA. Keratin expression was absent in most cases. Molecular analysis was performed in 16 cases, all showing EWSR1-rearrangments. In total, 15/15 (100%) harbored an EWSR1::PBX3 fusion, whereas 1 case EWSR1 FISH was the only molecular study performed.
CONCLUSIONS: Syncytial myoepithelioma is a rare but recognizable morphologic variant of myoepithelioma which may have a predilection for skin but also occurs in diverse non-cutaneous sites. Our series provides evidence supporting a reappraisal of the term \"cutaneous syncytial myoepithelioma,\" as 25% of patients in our series presented with non-cutaneous tumors; thus, we propose the term \"syncytial myoepithelioma\" to aid pathologist recognition and avoidance of potentially confusing terminology when referring to non-cutaneous examples. The behavior of syncytial myoepithelioma, whether it arises in cutaneous or non-cutaneous sites, is indolent and perhaps benign with a small capacity for local recurrence.