Clues to Recognition of Fumarate Hydratase-Deficient Renal Cell Carcinoma: Findings From Cytologic and Limited Biopsy Samples
dc.contributor.author | Shyu, Irene | |
dc.contributor.author | Mirsadraei, Leili | |
dc.contributor.author | Wang, Xiaoyan | |
dc.contributor.author | Robila, Valentina | |
dc.contributor.author | Mehra, Rohit | |
dc.contributor.author | McHugh, Jonathan B. | |
dc.contributor.author | Chen, Ying-Bei | |
dc.contributor.author | Udager, Aaron M. | |
dc.contributor.author | Gill, Anthony J. | |
dc.contributor.author | Cheng, Liang | |
dc.contributor.author | Amin, Mahul B. | |
dc.contributor.author | Lin, Oscar | |
dc.contributor.author | Smith, Steven Christopher | |
dc.contributor.department | Pathology and Laboratory Medicine, School of Medicine | en_US |
dc.date.accessioned | 2023-06-26T11:46:31Z | |
dc.date.available | 2023-06-26T11:46:31Z | |
dc.date.issued | 2018 | |
dc.description.abstract | Background: Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is rare and highly aggressive and is believed to arise mostly in the setting of hereditary leiomyomatosis-RCC syndrome with a germline mutation of FH. Because of the aggressiveness of these tumors and a frequent lack of ascertainable family history, these tumors may first present as metastases and be sampled by cytology. The cytologic findings of FH-deficient RCC have not previously been reported. Methods: Cytologic and limited biopsy samples from patients with FH-deficient RCC were reviewed retrospectively. Results: In total, 24 cytologic and limited biopsy samples from 19 patients (6 women and 13 men; age range, 22-69 years) who had FH-deficient RCC and metastasis at presentation were evaluated. These included 21 cytology samples ranging from malignant effusions (n = 7) to metastases (n = 11), to samples of primary kidney tumors (n = 3). The samples exhibited cells, often in clusters and abortive papillae, with voluminous, finely vacuolated cytoplasm and large, pleomorphic nuclei with prominent, viral inclusion-like nucleoli. A distinctive finding of peripheral cytoplasmic clearing frequently was apparent, and intranuclear cytoplasmic pseudoinclusions were less frequent. Of 7 cell block and biopsy samples, several of which represented sampling from the same patient, all demonstrated tissue fragments that had discernable morphologic patterns associated with FH-deficient RCC, including tubulocystic and intracystic papillary growth. Conclusions: Features characteristic and suggestive of FH-deficient RCC may be identified in cytologic and small biopsy samples. Although the current samples were identified retrospectively in well characterized cases of FH-deficient RCC, the authors argue that, with appropriate clinical correlation, these features are sufficiently distinctive to trigger recognition and confirmatory workup. | en_US |
dc.eprint.version | Author's manuscript | en_US |
dc.identifier.citation | Shyu I, Mirsadraei L, Wang X, et al. Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples. Cancer Cytopathol. 2018;126(12):992-1002. doi:10.1002/cncy.22071 | en_US |
dc.identifier.uri | https://hdl.handle.net/1805/33949 | |
dc.language.iso | en_US | en_US |
dc.publisher | Wiley | en_US |
dc.relation.isversionof | 10.1002/cncy.22071 | en_US |
dc.relation.journal | Cancer Cytopathology | en_US |
dc.rights | Publisher Policy | en_US |
dc.source | PMC | en_US |
dc.subject | Aspiration cytology | en_US |
dc.subject | Fumarate hydratase-deficient renal cell carcinoma | en_US |
dc.subject | Hereditary leiomyomatosis-renal cell carcinoma syndrome | en_US |
dc.subject | Hereditary neoplasia | en_US |
dc.subject | Renal cell carcinoma | en_US |
dc.title | Clues to Recognition of Fumarate Hydratase-Deficient Renal Cell Carcinoma: Findings From Cytologic and Limited Biopsy Samples | en_US |
dc.type | Article | en_US |