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延胡索酸水合酶缺陷型肾细胞癌临床病理分析及文献复习
Clinicopathological analysis of fumarate hydratase-deficient renal cell carcinoma and literature review
- 第三军医大学学报 2021年43卷第18期 页码：1743-1750
- 作者机构：
400038 重庆，陆军军医大学(第三军医大学)第一附属医院病理研究所
- 作者简介：
[段光杰, E-mail: gjduan@163.comDUAN Guangjie, E-mail: gjduan@163.com
- 基金信息：
DOI：10.16016/j.1000-5404.202103180
中图分类号： R730.21;R737.11收稿：2021-03-22，
修回：2021-06-16，
纸质出版：2021-09-30
- 稿件说明：
移动端阅览
杨亚丽, 吴友莉, 蓝洋, 等. 延胡索酸水合酶缺陷型肾细胞癌临床病理分析及文献复习[J]. 第三军医大学学报, 2021,43(18):1743-1750.
Yali YANG, Youli WU, Yang LAN, et al. Clinicopathological analysis of fumarate hydratase-deficient renal cell carcinoma and literature review[J]. Journal of Third Military Medical University, 2021, 43(18): 1743-1750.
杨亚丽, 吴友莉, 蓝洋, 等. 延胡索酸水合酶缺陷型肾细胞癌临床病理分析及文献复习[J]. 第三军医大学学报, 2021,43(18):1743-1750. DOI： 10.16016/j.1000-5404.202103180.
Yali YANG, Youli WU, Yang LAN, et al. Clinicopathological analysis of fumarate hydratase-deficient renal cell carcinoma and literature review[J]. Journal of Third Military Medical University, 2021, 43(18): 1743-1750. DOI： 10.16016/j.1000-5404.202103180.
摘要
目的
2
探讨延胡索酸水合酶缺陷型肾细胞癌(fumarate hydratase-deficient renal cell carcinoma，FH-d RCC)的临床病理学特征，加强对该罕见肿瘤的认识。
方法
2
收集2010－2020年陆军军医大学第一附属医院诊断的2例FH-d RCC患者资料，包括组织病理形态、免疫组织化学染色、荧光原位杂交(FISH)和下一代测序(NGS)，并复习相关文献。
结果
2
2例患者均为男性，年龄分别为34和35岁。例1为双肾肿瘤伴肾门淋巴结转移，瘤细胞核级高，呈乳头状、腺管状排列。例2肿瘤位于肾脏上极并累及肾上腺，大部分区域瘤细胞分化好，呈大小不等的管状、囊状排列，周围伴局灶低分化区域。2例部分瘤细胞核内均可见到嗜酸性病毒包涵体样的大核仁及核仁周空晕。免疫组织化学染色显示两例瘤细胞除表达上皮和肾源性标记外，均呈现CK7阴性/CA9灶性阳性；FH的表达例1缺失、例2无缺失，但2例NGS均检测到FH基因的体细胞突变。FISH检测未发现TFE3基因重排。
结论
2
FH-d RCC是一种具有FH基因突变的高级别肾细胞癌，侵袭性强、预后差。肿瘤细胞呈乳头状排列伴有明显的嗜酸性病毒包涵体样大核仁及核仁周空晕是其典型病理形态特征。
Abstract
Objective
2
To investigate the clinicopathological characteristics of fumarate hydratase-deficient renal cell carcinoma (FH-d RCC) so as to further understand this rare tumor.
Methods
2
Two cases with FH-d RCC diagnosed in our hospital from 2010 to 2020 were studied by histopathological observation
immunohistochemical staining (IHC)
fluorescence
in situ
hybridization (FISH) and next generation sequencing (NGS)
respectively. A literature review was also performed.
Results
2
Both patients were males and aged 34 and 35 years respectively. In case 1
the tumor affected bilateral kidneys with renal hilar lymph node metastasis
whose tumor cells displayed papillary and glandular patterns with high-grade morphology. In case 2
the tumor was located in the upper pole of the kidney and afflicted the adrenal gland; the tumor cells in most areas were well differentiated
presenting tubular and cystic arrangement in varying sizes
and were surrounded by focal areas of low differentiation. Eosinophilic viral inclusion-like macronucleoli and perinucleolar halos are observed in some tumor nuclei of both cases. Besides positive staining for epithelial and renal markers by IHC
both tumors showed negative for CK7 and focal positive for CA9 (CK7
-
/CA9
+
). FH expression was absent in case 1 while retained in case 2
but somatic FH gene mutations were detected in both cases by NGS. Moreover
no rearrangement of TFE3 gene was found by FISH.
Conclusion
2
FH-d RCC is a rare high-grade renal cell carcinoma with FH gene mutation
often showing highly aggressive behavior and poor prognosis
whose typical histopathologic features include the papillary arrangement of tumor cells
eosinophilic viral inclusion-like macronucleoli and perinucleolar halos.
关键词
Keywords
references
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