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Tubulocystic Carcinoma of Bile Ducts: A Distinct Type of Cholangiocarcinoma Associated With Adenofibroma-type Lesions.
The American Journal of Surgical Pathology ( IF 4.5 ) Pub Date : 2024-07-01 , DOI: 10.1097/pas.0000000000002278 Francesca Masetto 1 , Andrea Mafficini 1, 2 , Burcu Saka 3 , Ayse Armutlu 3 , Deyali Chatterjee 4 , Kee-Taek Jang 5 , Yoh Zen 6 , Pooja Navale 7 , Matteo Fassan 8 , Carlos E Bacchi 9 , Paola Mattiolo 1 , Michele Simbolo 1 , Andrea Ruzzenente 10 , Rita T Lawlor 2, 11 , Michelle Reid 12 , Olca Basturk 13 , Volkan Adsay 3 , Aldo Scarpa 1, 2 , Claudio Luchini 1, 2
The American Journal of Surgical Pathology ( IF 4.5 ) Pub Date : 2024-07-01 , DOI: 10.1097/pas.0000000000002278 Francesca Masetto 1 , Andrea Mafficini 1, 2 , Burcu Saka 3 , Ayse Armutlu 3 , Deyali Chatterjee 4 , Kee-Taek Jang 5 , Yoh Zen 6 , Pooja Navale 7 , Matteo Fassan 8 , Carlos E Bacchi 9 , Paola Mattiolo 1 , Michele Simbolo 1 , Andrea Ruzzenente 10 , Rita T Lawlor 2, 11 , Michelle Reid 12 , Olca Basturk 13 , Volkan Adsay 3 , Aldo Scarpa 1, 2 , Claudio Luchini 1, 2
Affiliation
A type of cholangiocarcinoma (CCA) characterized by peculiar histologic patterns and underlying adenofibromatous lesions has been reported in the literature mostly as individual case reports. This study aims to further clarify the defining characteristics of this spectrum of lesions. Clinicopathologic analysis of 8 biliary tumors with tubulocystic architecture arising in the background of adenofibroma-type lesions was performed. Three of these were also investigated with next-generation sequencing with a 174 genes panel. The patients were 5 males and 3 females, with a mean age of 64.6. All tumors were intrahepatic except for one perihilar that protruded into soft tissues. The mean size was 4.4 cm. At histology, all cases showed a peculiar and cytologically bland tubulocystic pattern that closely resembled tubulocystic-type kidney cancers, including back-to-back microcystic units that formed relatively demarcated nodules, and occurring in the background of adenofibromatous lesions. One case showed perineural invasion by otherwise deceptively benign-appearing microcystic structures, one had areas transitioning to intraductal tubulopapillary neoplasm, and 3 cases harbored more conventional small-duct CCA foci. In those 3 cases, both the tubulocystic and conventional CCA components were investigated by next-generation sequencing separately, and they shared the molecular alterations, including recurrent mutations in chromatin remodeling genes, such as ARID1A, BAP1, and PBRM1, and the actionable FGFR2-MCU fusion gene. In the limited follow-up, all but one were alive and free of disease after surgical resection. In conclusion, we described a distinct entity of CCA with specific histo-molecular features, for which we propose the designation of tubulocystic carcinoma of bile ducts.
中文翻译:
胆管管囊性癌:与腺纤维瘤型病变相关的一种独特类型的胆管癌。
文献中报道的一种胆管癌(CCA),其特征是特殊的组织学模式和潜在的腺纤维瘤性病变,大多作为个体病例报告。本研究旨在进一步阐明这一系列病变的定义特征。对 8 例以腺纤维瘤型病变为背景的具有管状囊性结构的胆道肿瘤进行了临床病理学分析。其中三个还通过 174 个基因组的下一代测序进行了研究。患者中男5例,女3例,平均年龄64.6岁。除一处突出至软组织的肝门周围肿瘤外,所有肿瘤均位于肝内。平均尺寸为 4.4 厘米。在组织学上,所有病例均表现出一种奇特且细胞学上平淡的管状囊性模式,与管状囊性肾癌非常相似,包括形成相对界限分明的结节的背靠背微囊单位,并发生在腺纤维瘤病变的背景中。 1 例表现出神经周围浸润,但看似良性的微囊性结构,1 例有转变为导管内管状乳头状肿瘤的区域,3 例有更传统的小导管 CCA 病灶。在这 3 个病例中,通过下一代测序分别研究了管状囊性和传统 CCA 成分,它们共享分子改变,包括染色质重塑基因(如 ARID1A、BAP1 和 PBRM1)的反复突变,以及可操作的 FGFR2- MCU融合基因。在有限的随访中,手术切除后,除一名外,其余所有人都活着并且没有疾病。 总之,我们描述了具有特定组织分子特征的 CCA 的独特实体,我们建议将其命名为胆管管状囊性癌。
更新日期:2024-07-01
中文翻译:
胆管管囊性癌:与腺纤维瘤型病变相关的一种独特类型的胆管癌。
文献中报道的一种胆管癌(CCA),其特征是特殊的组织学模式和潜在的腺纤维瘤性病变,大多作为个体病例报告。本研究旨在进一步阐明这一系列病变的定义特征。对 8 例以腺纤维瘤型病变为背景的具有管状囊性结构的胆道肿瘤进行了临床病理学分析。其中三个还通过 174 个基因组的下一代测序进行了研究。患者中男5例,女3例,平均年龄64.6岁。除一处突出至软组织的肝门周围肿瘤外,所有肿瘤均位于肝内。平均尺寸为 4.4 厘米。在组织学上,所有病例均表现出一种奇特且细胞学上平淡的管状囊性模式,与管状囊性肾癌非常相似,包括形成相对界限分明的结节的背靠背微囊单位,并发生在腺纤维瘤病变的背景中。 1 例表现出神经周围浸润,但看似良性的微囊性结构,1 例有转变为导管内管状乳头状肿瘤的区域,3 例有更传统的小导管 CCA 病灶。在这 3 个病例中,通过下一代测序分别研究了管状囊性和传统 CCA 成分,它们共享分子改变,包括染色质重塑基因(如 ARID1A、BAP1 和 PBRM1)的反复突变,以及可操作的 FGFR2- MCU融合基因。在有限的随访中,手术切除后,除一名外,其余所有人都活着并且没有疾病。 总之,我们描述了具有特定组织分子特征的 CCA 的独特实体,我们建议将其命名为胆管管状囊性癌。