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Familial Cancer
Published in: Familial Cancer 1/2020

Open Access 01-01-2020 | Kidney Cancer | Original Article

Renal cell carcinoma in young FH mutation carriers: case series and review of the literature

Authors: J. A. Hol, M. C. J. Jongmans, A. S. Littooij, R. R. de Krijger, R. P. Kuiper, J. J. T. van Harssel, A. Mensenkamp, M. Simons, G. A. M. Tytgat, M. M. van den Heuvel-Eibrink, M. van Grotel

Published in: Familial Cancer | Issue 1/2020

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Abstract

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC), which is usually adult-onset. HLRCC-related RCC tends to be aggressive and can metastasize even when the primary tumor is small. Data on children and adolescents are scarce. Herein, we report two patients from unrelated Dutch families, with HLRCC-related RCC at the ages of 15 and 18 years, and a third patient with an FH mutation and complex renal cysts at the age of 13. Both RCC’s were localized and successfully resected, and careful MRI surveillance was initiated to monitor the renal cysts. One of the patients with RCC subsequently developed an ovarian Leydig cell tumor. A review of the literature identified 10 previously reported cases of HLRCC-related RCC in patients aged younger than 20 years, five of them presenting with metastatic disease. These data emphasize the importance of recognizing HLRCC in young patients to enable early detection of RCC, albeit rare. They support the recommendations from the 2014 consensus guideline, in which genetic testing for FH mutations, and renal MRI surveillance, is advised for HLRCC family members from the age of 8–10 years onwards.
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Metadata
Title
Renal cell carcinoma in young FH mutation carriers: case series and review of the literature
Authors
J. A. Hol
M. C. J. Jongmans
A. S. Littooij
R. R. de Krijger
R. P. Kuiper
J. J. T. van Harssel
A. Mensenkamp
M. Simons
G. A. M. Tytgat
M. M. van den Heuvel-Eibrink
M. van Grotel
Publication date
01-01-2020
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 1/2020
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-019-00155-3

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