A Confirmed Extrarenal Birt-Hogg-Dubé-Associated Oncocytic Neoplasm.

IF 4.5 1区 医学 Q1 PATHOLOGY American Journal of Surgical Pathology Pub Date : 2024-09-02 DOI:10.1097/PAS.0000000000002305
Ezra Baraban, Elliot K Fishman, Kelly Lafaro, Ming-Tseh Lin, Yasser Ged, Ralph H Hruban, Pedram Argani
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Abstract

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited disease characterized by a variety of renal epithelial tumors and oncocytosis, with extrarenal manifestations primarily consisting of pulmonary cysts and cutaneous fibrofolliculomas. Here we report a unique case of a primary extrarenal BHD-associated oncocytic epithelial neoplasm which arose between the duodenum and head of the pancreas. The unusual morphology and immunoprofile of this lesion defied classification as any previously reported entity, despite an extensive diagnostic workup. The immunohistochemical and molecular features indicate the tumor was driven by FLCN loss, and thus a consequence of the underlying germline mutation with a somatic second hit. This tumor is the first reported example of an extrarenal BHD-associated oncocytic epithelial tumor driven by FLCN loss.

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确诊的肾外 Birt-Hogg-Dubé 相关肿瘤细胞瘤
比尔-霍格-杜贝(Birt-Hogg-Dubé,BHD)综合征是一种罕见的遗传性疾病,以各种肾上皮肿瘤和肿瘤细胞增多症为特征,肾外表现主要包括肺囊肿和皮肤纤维组织瘤。在此,我们报告了一例独特的原发性肾外 BHD 相关肿瘤细胞上皮肿瘤,该肿瘤发生在十二指肠和胰头之间。尽管进行了大量的诊断工作,但这一病变不寻常的形态和免疫特征使其无法归类为之前报道过的任何实体。免疫组化和分子特征表明,该肿瘤是由 FLCN 缺失驱动的,因此是潜在种系突变和体细胞二次突变的结果。该肿瘤是首例报道的由FLCN缺失导致的肾外BHD相关性肿瘤上皮细胞瘤。
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来源期刊
CiteScore
10.30
自引率
5.40%
发文量
295
审稿时长
1 months
期刊介绍: The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities. Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.
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