A rare case of FH-deficient renal cell carcinoma with signet ring cells features
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a clinically aggressive tumor with high rates of progression and mortality. A wide range of morphological variations has been observed in FH-deficient RCC, initially described as type 2 papillary RCC or unclassified RCC. Here, we report a case of FH-deficient RCC with rare signet ring cells features. The patient was diagnosed with FH-deficient renal cell carcinoma and suspected to have hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. After 4 months, pulmonary metastasis occurred in the patient. We herein describe the first case of FH-deficient renal tumor with signet ring cells features, which expands the morphological spectrum of this tumor. More importantly, this variant can be a diagnostic pitfall, we emphasize that pathologists should consider not only the diagnosis of metastatic signet ring cell carcinoma and ALK rearrangement renal cell carcinoma but also FH-deficient renal cell carcinoma.
Authors
- Jiedong Jia (ORCID: https://orcid.org/0000-0002-0400-2973)
- Guihua Shen
- Chunfang Hu
- Yanlin Wen (ORCID: https://orcid.org/0000-0003-0109-2915)
- Xiaoliang Wang (ORCID: https://orcid.org/0000-0001-9851-0436)
- Huijuan Zhang (ORCID: https://orcid.org/0000-0001-7698-8842)
- Haitao Li (ORCID: https://orcid.org/0000-0001-5757-6375)
- Wenting Huang
- Lu Yin (ORCID: https://orcid.org/0000-0001-9596-3325)
- Ye Liu (ORCID: https://orcid.org/0009-0002-6601-4141)
Institutions
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- National Cancer Center (US)
Publication Details
- Journal
- Diagnostic Pathology
- Published
- 2024-12-18
- DOI
- https://doi.org/10.1186/s13000-024-01583-1
- Citations
- 1
- Primary Topic
- Renal cell carcinoma treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.42