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Heterozygous germline FLCN mutation in Birt–Hogg–Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report

  • Original Article – Clinical Oncology
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Abstract

Background

Birt–Hogg–Dubé (BHD) syndrome is a rare autosomal dominant tumor syndrome caused by Folliculin (FLCN) gene mutation. The clinical manifestations are diverse, and the renal tumor is the most serious.

Case presentation

We report the case of a 51-year-old female with multiple space-occupying lesions in both kidneys, as well as bilateral renal cysts and multiple lung cysts. The resected tumors were finally diagnosed as bilateral renal hybrid oncocytic/chromophobe tumor (HOCT) and unilateral chromophobe cell carcinoma. A history of pneumothorax surgery 4 years ago was convinced. All of these strongly suggested the possibility of BHD syndrome. Gene test confirmed a heterozygous germline FLCN nonsense mutation (c.1429C > T, p.Arg477Ter). The patient is still doing well after 20 months of follow-up (cut-off date July 2022).

Conclusion

This is a case of BHD syndrome presented with bilateral renal tumor, renal cysts, and multiple lung cysts, and confirmed by gene testing. Patients with any combination of one or more of the manifestations should remain alert to the BHD syndrome. Our report will help to deepen the understanding of the clinicopathological features and molecular changes of BHD syndrome.

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Abbreviations

BHD:

Birt–Hogg–Dubé

HOCT:

Hybrid oncocytic/chromophobe tumor

FLCN :

Folliculin

TSC:

Tuberous sclerosis complex

FVC:

Forced vital capacity

FEV1:

Forced expiratory volume in 1 s

DLCO:

Diffusing capacity of lung for carbon monoxide

VA:

Alveolar volume

HE:

Hematoxylin and eosin staining

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Acknowledgements

We sincerely thank the two reviewers for their valuable comments, which made the article continue to improve. We thank Professor Li Yong from the Department of Respiratory Medicine and Professor Ni Wang from the Pulmonary Function Department of Tongji Hospital for their assistance with related respiratory system problems.

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The authors have not disclosed any funding.

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Authors and Affiliations

  1. Institute of Pathology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Jun Li, Fan Liu, Xuguang Liu, Yu Hu & Jie Wan

  2. Department of Pathology, The Eighth Hospital of Wuhan, Wuhan, 430010, China

    Fan Liu

  3. Department of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Zheng Liu

  4. Department of Radiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China

    Yaqi Shen

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  1. Jun Li
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  4. Yu Hu
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Correspondence to Jie Wan.

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Li, J., Liu, F., Liu, X. et al. Heterozygous germline FLCN mutation in Birt–Hogg–Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report. J Cancer Res Clin Oncol 149, 2319–2325 (2023). https://doi.org/10.1007/s00432-022-04417-z

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