A Rare Case of FH-deficient Renal Cell Carcinoma with Signet Ring Cells Features

Overview

Journal Diagn Pathol

Publisher Biomed Central

Specialty Pathology

Date 2024 Dec 19

PMID 39695805

Authors

Yin Lu

Chunfang Hu

Jiedong Jia

Ye Liu

Yanlin Wen

Huijuan Zhang

Xiaoliang Wang

Haitao Li

Guihua Shen

Wenting Huang

Affiliations

Soon will be listed here.

Abstract

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.

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