Fumarate Hydratase-Deficient Renal Cell Carcinoma with Nucleolar Pattern of GATA3 Immunoexpression: Report of 2 Cases

被引：0

作者：

Chaudhry, Sidhartha ^{[1
]}

Kravtsov, Oleksandr ^{[1
]}

机构：

[1] SUNY Upstate Med Univ, Dept Pathol, 750 E Adams St, Syracuse, NY 13210 USA

来源：

INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY | 2025年 / 33卷 / 01期

关键词：

fumarate hydratase-deficient renal cell carcinoma; hereditary leiomyomatosis and renal cell cancer syndrome; GATA3; immunohistochemistry; HEREDITARY LEIOMYOMATOSIS; 2SC; FH;

D O I：

10.1177/10668969241253210

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a rare aggressive type of renal cell carcinoma. The significant morphologic overlap with other types of renal neoplasia and the limited availability of FH and 2-succinylcholine immunostains for diagnostic use outside large referral centers have created numerous diagnostic pitfalls. As FH-deficient RCC can be associated with hereditary leiomyomatosis and renal cell cancer syndrome, the importance of an accurate diagnosis goes beyond the prognosis and treatment of an individual patient. We present 2 patients with FH-deficient RCC showing a peculiar pattern of GATA3 immunoexpression restricted to tumor nucleoli. If confirmed in further larger studies, this could provide an additional diagnostic clue for considering the FH-deficient RCC diagnosis, and given the frequent papillary morphology and possible hilar location can lead to the misdiagnosis as high-grade urothelial carcinoma, and is an important diagnostic pitfall to be aware of.

引用

页码：199 / 203

页数：5

共 50 条

[31] FH (Fumarate Hydratase)-deficient renal cell carcinoma: A case report [J].

Allaume, Pierre ;

Kammerer-Jacquet, Solene-Florence ;

Papadopoulos, Stephanos ;

Rioux-Leclercq, Nathalie .

ANNALES DE PATHOLOGIE, 2023, 43 (05) :417-420

[32] Genomic and transcriptomic features between primary and paired metastatic fumarate hydratase-deficient renal cell carcinoma [J].

Liang, Jiayu ;

Sun, Guangxi ;

Pan, Xiuyi ;

Zhang, Mengni ;

Shen, Pengfei ;

Zhu, Sha ;

Zhao, Jinge ;

Zheng, Linmao ;

Zhao, Junjie ;

Chen, Yuntian ;

Yin, Xiaoxue ;

Chen, Junru ;

Hu, Xu ;

Zeng, Yuhao ;

Chen, Jianhui ;

Wang, Yongquan ;

Liu, Zhihong ;

Yao, Jin ;

Su, Minggang ;

Huang, Rui ;

Liao, Banghua ;

Wei, Qiang ;

Li, Xiang ;

Zhou, Qiao ;

Liu, Jiyan ;

Shen, Yali ;

Liu, Zhenhua ;

Chen, Ni ;

Zeng, Hao ;

Zhang, Xingming .

GENOME MEDICINE, 2023, 15 (01)

[33] Renal cell carcinoma morphologically similar to fumarate hydratase-deficient RCC in a patient with BRCA2 germline mutation [J].

Souza, Vinicius Carrera ;

Vinhas, Christiana de Freitas ;

Miguel, Diego ;

Athanazio, Daniel Abensur ;

Trpkov, Kiril .

PATHOLOGY INTERNATIONAL, 2018, 68 (09) :541-542

[34] Factors influencing the detection rate of fumarate peak in 1H MR spectroscopy of fumarate hydratase-deficient renal cell carcinoma at 3 T MRI [J].

Pan, S. ;

Wang, J. ;

Liu, G. ;

Zhang, J. ;

Song, Y. ;

Kong, W. ;

Zhou, Y. ;

Wu, G. .

CLINICAL RADIOLOGY, 2024, 79 (01) :e80-e88

[35] Comparative analyses of tumour immune microenvironment between collecting duct carcinoma and fumarate hydratase-deficient renal cell carcinoma [J].

Kiyozawa, Daisuke ;

Kohashi, Kenichi ;

Takamatsu, Dai ;

Umekita, Shinya ;

Eto, Masatoshi ;

Kinjo, Mitsuru ;

Nishiyama, Kenichi ;

Taguchi, Kenichi ;

Oshiro, Yumi ;

Kuboyama, Yusuke ;

Oda, Yoshinao .

JOURNAL OF CLINICAL PATHOLOGY, 2024, 77 (02) :105-110

[36] Approach for reclassification of collecting duct carcinoma and comparative histopathological analysis with SMARCB1/INI1-deficient renal cell carcinoma and fumarate hydratase-deficient renal cell carcinoma [J].

Kiyozawa, Daisuke ;

Kohashi, Kenichi ;

Takamatsu, Dai ;

Iwasaki, Takeshi ;

Shibata, Daiki ;

Tomonaga, Takumi ;

Tateishi, Yuki ;

Eto, Masatoshi ;

Kinjo, Mitsuru ;

Nishiyama, Kenichi ;

Taguchi, Kenichi ;

Oshiro, Yumi ;

Kuboyama, Yusuke ;

Furuya, Mitsuko ;

Oda, Yoshinao .

HUMAN PATHOLOGY, 2022, 124 :36-44

[37] Characterization of protein S-(2-succino)-cysteine (2SC) succination as a biomarker for fumarate hydratase-deficient renal cell carcinoma [J].

Mannan, Rahul ;

Wang, Xiaoming ;

Bawa, Pushpinder S. ;

Chugh, Seema ;

Chinnaiyan, Anya K. ;

Rangaswamy, Roshni ;

Zhang, Yuping ;

Cao, Xuhong ;

Smith, Steven C. ;

Trpkov, Kiril ;

Williamson, Sean R. ;

Sangoi, Ankur R. ;

Mohanty, Sambit ;

McKenney, Jesse K. ;

Gupta, Sounak ;

Magi-Galluzzi, Cristina ;

Argani, Pedram ;

Osunkoya, Adeboye O. ;

Chinnaiyan, Arul M. ;

Dhanasekaran, Saravana M. ;

Mehra, Rohit .

HUMAN PATHOLOGY, 2023, 134 :102-113

[38] Fumarate hydratase-deficient renal cell carcinoma presenting as pelvicalyceal filling defect: an unusual presentation of a rare disease [J].

Ajjikuttira, Aiyapa ;

Sharma, Pranav ;

Joshi, Andre ;

Rhee, Handoo .

BMJ CASE REPORTS, 2021, 14 (03)

[39] Fumarate hydratase-deficient renal cell carcinoma: A tumor with diverse morphology including cannibalism, lymphocytic emperipolesis, and defective autophagy [J].

Billis, Athanase ;

Assis-Mendonca, Guilherme R. ;

Tavares, Thais F. ;

Parreira, Katariny ;

Costa, Larissa B. E. ;

Barreto, Icleia S. ;

Freitas, Leandro L. L. .

ANNALS OF DIAGNOSTIC PATHOLOGY, 2022, 56

[40] Fumarate Hydratase-deficient Cell Line NCCFH1 as a New In Vitro Model of Hereditary Papillary Renal Cell Carcinoma Type 2 [J].

Perrier-Trudova, Victoria ;

Huimin, Bernice Wong ;

Kongpetch, Sarinya ;

Huang, Dachuan ;

Ong, Pauline ;

Le Formal, Audrey ;

Poon, Song Ling ;

Siew, Ee Yan ;

Myint, Swe Swe ;

Gad, Sophie ;

Gardie, Betty ;

Couve, Sophie ;

Foong, Yu Miin ;

Choudhury, Yukti ;

Poh, Jonathan ;

Ong, Choon Kiat ;

Toh, Chee Keong ;

Ooi, Aikseng ;

Richard, Stephane ;

Tan, Min-Han ;

Teh, Bin Tean .

ANTICANCER RESEARCH, 2015, 35 (12) :6639-6653

← 1 2 3 4 5 →