■眼周皮脂腺癌(PSC)在临床和组织形态学上仍然是一个常见的诊断陷阱。已在各种肿瘤中研究了PRAME(在黑色素瘤中优先表达的抗原),作为诊断和治疗标志物。PRAME在正常皮脂腺单位和一些皮脂腺病变中表达;然而,其在皮脂腺癌诊断中的应用尚未得到广泛研究。我们对利物浦国家眼科病理专科医师诊断为PSC的患者进行了13年的回顾性审查。在这里,我们报道了这些肿瘤的组织形态学和免疫组织化学(IHC)特征,特别是PRAME在该队列中的表达。
■从组织病理学档案中检索了2009年至2022年诊断的31例PSC病例。纳入诊断为侵袭性PSC的20例和原位PSC的11例。对苏木精和伊红(H&E)载玻片和先前进行的IHC载玻片进行回顾;获得临床信息数据。还对具有足够组织的病例进行PRAME(黑色素瘤中优先表达的抗原)和亲脂素(如果尚未进行)染色。
■总共,有24名女性和7名男性被诊断患有PSC,55至90岁(中位数,78年)。接收的标本类型为11个结膜标测活检,19次切除/楔形切除,和1个眼眶切除。眼睑是最常见的部位(n=24),其次是眼睑结膜(3),和结膜单独(4)。所有患者均有恶性肿瘤的临床嫌疑。组织学上,11例浸润性PSC(55%)表现出低分化形态,由主要的非典型基底细胞组成,具有最小的皮囊细胞分化;9例(45%)中度分化,具有明显的细密多效细胞质;3例(15%)显示相关的粉刺坏死。大多数侵入性PSC表现出中度至轻快的有丝分裂活动。在那些有免疫染色的病例中(n=31),25(80.6%)表达亲脂素;18(58.1%)Ber-EP4;14(45.2%)上皮膜抗原(EMA);雄激素受体和穿孔素阳性5(16.1%)。PRAME表达见于正常皮脂腺;然而,只有(5/19;26%)的侵入性PSC显示局灶性弱至中度PRAME阳性,多见于中分化肿瘤.没有一个原位PSC是PRAME阳性的。
■大多数PSC是中等至低分化的。虽然PRAME以正常皮脂腺单位表示,它作为PSC的诊断标记似乎不太有用,尤其是低分化肿瘤。在困难的情况下,IHC研究小组(脂肪亲脂素,Ber-EP4和EMA)获得明确的诊断。
UNASSIGNED: Periocular sebaceous carcinoma (PSC) remains a common diagnostic pitfall both clinically and histomorphologically. PRAME (preferentially expressed antigen in melanoma) has been studied in the various neoplasms as proposed as diagnostic and therapeutic markers. PRAME is expressed in normal sebaceous units and in some sebaceous lesions; however, its utility in sebaceous carcinoma diagnosis has not yet been extensively investigated. We conducted a 13-year retrospective review of the patients diagnosed with PSC at the National Specialist Ophthalmic Pathology Service in Liverpool. Herein, we report the histomorphological and immunohistochemical (IHC) features of these tumors, particularly PRAME expression in this cohort.
UNASSIGNED: Thirty-one PSC cases diagnosed between 2009 and 2022 were retrieved from the histopathology archives. Twenty cases diagnosed as invasive PSC and 11 cases with in situ PSC were included. The hematoxylin and eosin (H&E) slides and previously performed IHC slides were reviewed; clinical information data were obtained. Cases with an adequate tissue were also stained for PRAME (preferentially expressed antigen in melanoma) and adipophilin (if not already performed).
UNASSIGNED: In total, there were 24 females and 7 males diagnosed with PSC, ranging from 55 to 90 years (median, 78 years). The types of specimens received were 11 conjunctival mapping biopsies, 19 excisions/wedge resections, and 1 orbital exenteration. The eyelid was the commonest site involved (n = 24), followed by eyelid with conjunctiva (3), and conjunctiva alone (4). All patients presented with the clinical suspicion of malignancy. Histologically, 11 invasive PSC (55%) exhibited poorly differentiated morphology, composed of predominantly atypical basaloid cells with minimal sebocytic differentiation; 9 cases (45%) were moderately differentiated with noticeable finely multivacuolated cytoplasm; and 3 (15%) showed associated comedo necrosis. Most invasive PSC showed moderate-to-brisk mitotic activities. Of those cases with available immunostains (n = 31), 25 (80.6%) expressed adipophilin; 18 (58.1%) Ber-EP4; 14 (45.2%) epithelial membrane antigen (EMA); and 5 (16.1%) both androgen receptor and perforin positivity. PRAME expression was seen in normal sebaceous glands; however, only (5/19; 26%) of invasive PSC showed focal weak-to-moderate PRAME positivity, and mostly in moderately differentiated tumors. None of the in situ PSCs were PRAME-positive.
UNASSIGNED: Most PSCs are moderate-to-poorly differentiated. Although PRAME is expressed in normal sebaceous units, it appears less useful as diagnostic marker for PSC, especially in poorly differentiated tumors. In difficult cases, panels of IHC studies (adipophilin, Ber-EP4, and EMA) achieve a definitive diagnosis.