Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples Journal Article
| Authors: | Shyu, I.; Mirsadraei, L.; Wang, X.; Robila, V.; Mehra, R.; McHugh, J. B.; Chen, Y. B.; Udager, A. M.; Gill, A. J.; Cheng, L.; Amin, M. B.; Lin, O.; Smith, S. C. |
| Article Title: | Clues to recognition of fumarate hydratase-deficient renal cell carcinoma: Findings from cytologic and limited biopsy samples |
| 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. © 2018 American Cancer Society |
| Keywords: | renal cell carcinoma; aspiration cytology; fumarate hydratase-deficient renal cell carcinoma; hereditary leiomyomatosis-renal cell carcinoma syndrome; hereditary neoplasia |
| Journal Title: | Cancer Cytopathology |
| Volume: | 126 |
| Issue: | 12 |
| ISSN: | 1934-662X |
| Publisher: | John Wiley & Sons |
| Date Published: | 2018-12-01 |
| Start Page: | 992 |
| End Page: | 1002 |
| Language: | English |
| DOI: | 10.1002/cncy.22071 |
| PROVIDER: | scopus |
| PUBMED: | 30339328 |
| PMCID: | PMC9116881 |
| DOI/URL: | |
| Notes: | Cancer Cytho. -- Export Date: 2 January 2019 -- Article -- Source: Scopus C2 - 30339328 |
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