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病例报告:一例罕见的低级别富马酸水合酶缺陷型肾细胞癌。

Case report: A rare low-grade fumarate hydratase-deficient renal cell carcinoma.

作者信息

Sun Di, Hu Baohong, Li Xinna, Yang Ping, Yu Guohua

机构信息

Department of Pathology, Yantai Yuhuangding Hospital of Qingdao University, Yantai, China.

Department of Oncology, Yantai Yuhuangding Hospital of Qingdao University, Yantai, China.

出版信息

Front Oncol. 2024 Nov 26;14:1440119. doi: 10.3389/fonc.2024.1440119. eCollection 2024.

DOI:10.3389/fonc.2024.1440119
PMID:39659780
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11628368/
Abstract

AIM

To study and analyze the clinicopathological features of low-grade fumarate hydratase-deficient renal cell carcinoma in order to improve the understanding of the diagnosis and management of rare and specific morphological cases of this tumor.

METHODS

A case of low-grade FH-deficient renal cell carcinoma in a male is reported, and its clinicopathological features were analyzed and literature review was performed.

RESULTS

A 48-year-old middle-aged male with no relevant positive clinical signs was admitted to the hospital with an incidental finding of a mass in the lower pole of the left kidney during abdominal CT examination. Pathomorphology showed that the tumor cells were arranged in a variety of structures and the cells were low grade eosinophilic. Immunohistochemistry showed Pax-8 (+), Vim (partially +), FH (-), CK7 (-), CD117 (-), P504s (partially +), CD10 (partially +), CA-9 (-), TFE3 (partially +), SDHB (+), CK20 (-), and Ki-67 (+, about 2%). Final pathologic diagnosis: FH-deficient renal cell carcinoma (low grade).

CONCLUSION

Single pure low-grade FH-deficient renal cell carcinoma of the kidney is extremely rare, and the image structure of this tumor exhibits diverse manifestations, which needs to be differentiated from many renal tumors in clinicopathological diagnosis in order to prevent misdiagnosis.

摘要

目的

研究和分析低级别富马酸水合酶缺乏性肾细胞癌的临床病理特征,以提高对该肿瘤罕见且特殊形态病例的诊断和管理的认识。

方法

报告1例男性低级别富马酸水合酶缺乏性肾细胞癌病例,分析其临床病理特征并进行文献复习。

结果

1例48岁中年男性,无相关阳性临床体征,因腹部CT检查偶然发现左肾下极肿块入院。病理形态学显示肿瘤细胞呈多种结构排列,细胞为低级别嗜酸性。免疫组化显示Pax-8(+)、Vim(部分+)、FH(-)、CK7(-)、CD117(-)、P504s(部分+)、CD10(部分+)、CA-9(-)、TFE3(部分+)、SDHB(+)、CK20(-),Ki-67(+,约2%)。最终病理诊断:富马酸水合酶缺乏性肾细胞癌(低级别)。

结论

单纯的低级别肾富马酸水合酶缺乏性肾细胞癌极为罕见,该肿瘤的影像结构表现多样,在临床病理诊断中需与多种肾肿瘤相鉴别,以防止误诊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8211/11628368/99674b9af175/fonc-14-1440119-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8211/11628368/99674b9af175/fonc-14-1440119-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8211/11628368/99674b9af175/fonc-14-1440119-g001.jpg

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本文引用的文献

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Adv Anat Pathol. 2021 Nov 1;28(6):396-407. doi: 10.1097/PAP.0000000000000321.
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Low-Grade Fumarate Hydratase-Deficient Renal Cell Carcinoma in a 30-Year-Old Female.30 岁女性低级别富马酸水合酶缺陷型肾细胞癌。
Int J Surg Pathol. 2022 Apr;30(2):184-189. doi: 10.1177/10668969211026241. Epub 2021 Jun 28.
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A Clinicopathologic and Molecular Analysis of Fumarate Hydratase-deficient Renal Cell Carcinoma in 32 Patients.
32 例琥珀酸脱氢酶缺陷型肾细胞癌的临床病理及分子分析。
Am J Surg Pathol. 2020 Jan;44(1):98-110. doi: 10.1097/PAS.0000000000001372.
4
Incidence of succinate dehydrogenase and fumarate hydratase-deficient renal cell carcinoma based on immunohistochemical screening with SDHA/SDHB and FH/2SC.基于 SDHA/SDHB 和 FH/2SC 的免疫组织化学筛选的琥珀酸脱氢酶和富马酸水合酶缺陷型肾细胞癌的发生率。
Hum Pathol. 2019 Sep;91:114-122. doi: 10.1016/j.humpath.2019.07.004. Epub 2019 Jul 9.
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