Adenoid Cystic Carcinoma of the Vulva and Vagina: A Clinicopathologic, Immunohistochemical, and Molecular Characterization of Five Cases.

IF 1.6 4区 医学 Q3 OBSTETRICS & GYNECOLOGY International Journal of Gynecological Pathology Pub Date : 2024-11-01 Epub Date: 2024-01-22 DOI:10.1097/PGP.0000000000001016
Delfim Doutel, Diana Venda, Fernanda Silva, Carmo Martins, Ana Félix, Joana Ferreira
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Abstract

Adenoid cystic carcinoma (ACC) is a rare neoplasm most frequently observed in the salivary glands, that can occur in other organs, including the vulva and vagina. Oncogenic mechanisms involving MYB, NFIB , and MYB-NFIB rearrangements have been described, but evidence in the vulva and vagina remains scarce. Our aim is to report the clinicopathologic features, immunohistochemical, and molecular findings in a series of vulvar and vaginal ACCs. Five cases were included. Medical records and slides were reviewed. Formalin-fixed paraffin-embedded material was available in 4 cases, where additional immunohistochemical and molecular studies were carried out. Fluorescence in situ hybridization using MYB, MYBL1 , and NFIB bacterial artificial chromosome-clones break-apart and MYB::NFIB BAC-clones fusion probes was performed. The patients' mean age at diagnosis was 52 years. Tumor size ranged from 0.5 to 5 cm. Microscopic examination revealed tubular, cribriform, and solid patterns. Perineural invasion was seen in 4 cases. Patients were treated with surgery, some with adjuvant radiation therapy. During follow-up (mean: 11 yr), 4 patients developed local recurrences. Recently, one of these patients developed pulmonary disease. Cam 5.2, CK5/6, CD117, and DOG-1 were positive in all 4 cases and S100 and calponin were positive in 3 cases. MYB rearrangement was present in 3 cases, including one with concurrent MYB amplification. There were no MYBL1 or NFIB rearrangements and no MYB :: NFIB fusions. Our findings corroborate that the histologic, immunohistochemical, and oncogenic background is similar between ACCs of the lower female genital tract and ACCs elsewhere, although the canonical MYB::NFIB fusion seems to be a less common finding in this location.

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外阴和阴道腺样囊性癌:五例病例的临床病理学、免疫组织化学和分子特征。
腺样囊性癌(ACC)是一种罕见的肿瘤,最常见于唾液腺,也可发生于其他器官,包括外阴和阴道。已有涉及 MYB、NFIB 和 MYB-NFIB 重排的致癌机制的描述,但在外阴和阴道中的证据仍然很少。我们的目的是报告一系列外阴和阴道 ACCs 的临床病理特征、免疫组化和分子研究结果。我们共纳入了五例病例。我们查阅了病历和切片。其中 4 例有福尔马林固定石蜡包埋材料,并进行了额外的免疫组化和分子研究。使用MYB、MYBL1和NFIB细菌人工染色体克隆断裂分离探针和MYB::NFIB BAC克隆融合探针进行了荧光原位杂交。患者确诊时的平均年龄为 52 岁。肿瘤大小从 0.5 厘米到 5 厘米不等。显微镜检查显示肿瘤呈管状、楔形和实性形态。4例患者出现了神经周围侵犯。患者接受了手术治疗,部分患者接受了辅助放射治疗。在随访期间(平均 11 年),4 例患者出现局部复发。最近,其中一名患者出现了肺部疾病。4例患者的Cam 5.2、CK5/6、CD117和DOG-1均呈阳性,3例患者的S100和钙蛋白呈阳性。3例出现MYB重排,其中1例同时伴有MYB扩增。没有 MYBL1 或 NFIB 重排,也没有 MYB::NFIB 融合。我们的研究结果证实,女性生殖道下段 ACC 与其他部位的 ACC 在组织学、免疫组化和致癌背景方面具有相似性,但 MYB::NFIB 融合在该部位似乎并不常见。
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来源期刊
CiteScore
3.90
自引率
12.50%
发文量
154
审稿时长
6-12 weeks
期刊介绍: International Journal of Gynecological Pathology is the official journal of the International Society of Gynecological Pathologists (ISGyP), and provides complete and timely coverage of advances in the understanding and management of gynecological disease. Emphasis is placed on investigations in the field of anatomic pathology. Articles devoted to experimental or animal pathology clearly relevant to an understanding of human disease are published, as are pathological and clinicopathological studies and individual case reports that offer new insights.
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