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A retrospective single-center pilot study of the genetic background of the transplanted kidney

A. Novotna, K. Horackova, J. Soukupova, P. Zemankova, P. Nehasil, P. Just, L. Voska, P. Kleiblova, S. Rajnochova Bloudickova

. 2025 ; 20 (1) : e0316192. [pub] 20250108

Language English Country United States

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc25010309

INTRODUCTION: Renal cell carcinoma (RCC) is one of the most prevalent cancers in kidney transplant recipients (KTR). The hereditary background of RCC in native kidneys has been determined, implicating its clinical importance. MATERIALS AND METHODS: This retrospective single-center pilot study aimed to identify a potential genetic predisposition to RCC of the transplanted kidney and outcome in KTR who underwent single kidney transplantation between January 2000 and December 2020 and manifested RCC of the transplanted kidney. Next-generation sequencing (NGS) based germline genetic analysis from peripheral blood-derived genomic DNA (gDNA) was performed in both the recipient and donor using a gene panel targeting 226 cancer predisposition genes. RESULTS: The calculated incidence of RCC of the transplanted kidney among 4146 KTR was 0.43%. In fifteen KTR and donors, NGS was performed. The mean KTR age at transplantation and the diagnosis of RCC was 50.3 years (median 54; 5-67 years) and 66 years (median 66; 24-79 years), respectively. The mean donor age at transplantation and graft age at RCC diagnosis was 39.7 years (median 42; 7-68 years) and 50.2 years (median 46; 20-83 years), respectively. The mean follow-up after RCC diagnosis was 47 months (median 39.1; 0-112 months). Papillary RCC was the most prevalent (n = 8), followed by clear cell RCC (n = 6) and unspecified RCC (n = 1). Thirteen RCCs were low-stage (pT1a/b) diseases, one was pT3, and one was of unknown stage. Most RCC was higher graded. No germline pathogenic cancer-predisposition variant was found in either KTR or donors except for several variants of uncertain significance. CONCLUSION: RCC of the transplanted kidney is very rare. Germline cancer-predisposition testing has identified several variants of uncertain significance, but no germline genetic predisposition to graft RCC in KTR. Further research is needed to assess the clinical relevance of genetic testing for cancer risk in KTR.

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$a INTRODUCTION: Renal cell carcinoma (RCC) is one of the most prevalent cancers in kidney transplant recipients (KTR). The hereditary background of RCC in native kidneys has been determined, implicating its clinical importance. MATERIALS AND METHODS: This retrospective single-center pilot study aimed to identify a potential genetic predisposition to RCC of the transplanted kidney and outcome in KTR who underwent single kidney transplantation between January 2000 and December 2020 and manifested RCC of the transplanted kidney. Next-generation sequencing (NGS) based germline genetic analysis from peripheral blood-derived genomic DNA (gDNA) was performed in both the recipient and donor using a gene panel targeting 226 cancer predisposition genes. RESULTS: The calculated incidence of RCC of the transplanted kidney among 4146 KTR was 0.43%. In fifteen KTR and donors, NGS was performed. The mean KTR age at transplantation and the diagnosis of RCC was 50.3 years (median 54; 5-67 years) and 66 years (median 66; 24-79 years), respectively. The mean donor age at transplantation and graft age at RCC diagnosis was 39.7 years (median 42; 7-68 years) and 50.2 years (median 46; 20-83 years), respectively. The mean follow-up after RCC diagnosis was 47 months (median 39.1; 0-112 months). Papillary RCC was the most prevalent (n = 8), followed by clear cell RCC (n = 6) and unspecified RCC (n = 1). Thirteen RCCs were low-stage (pT1a/b) diseases, one was pT3, and one was of unknown stage. Most RCC was higher graded. No germline pathogenic cancer-predisposition variant was found in either KTR or donors except for several variants of uncertain significance. CONCLUSION: RCC of the transplanted kidney is very rare. Germline cancer-predisposition testing has identified several variants of uncertain significance, but no germline genetic predisposition to graft RCC in KTR. Further research is needed to assess the clinical relevance of genetic testing for cancer risk in KTR.
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$a Horackova, Klara $u First Faculty of Medicine, Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague, Prague, Czech Republic $1 https://orcid.org/0000000273904751
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$a Soukupova, Jana $u First Faculty of Medicine, Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague, Prague, Czech Republic
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$a Zemankova, Petra $u First Faculty of Medicine, Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague, Prague, Czech Republic $u First Faculty of Medicine, Institute of Pathological Physiology, Charles University, Prague, Czech Republic
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$a Nehasil, Petr $u First Faculty of Medicine, Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague, Prague, Czech Republic $u First Faculty of Medicine, Institute of Pathological Physiology, Charles University, Prague, Czech Republic $u Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
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$a Just, Pavel $u First Faculty of Medicine, Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague, Prague, Czech Republic
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$a Voska, Ludek $u Department of Clinical and Transplant Pathology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic
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$a Kleiblova, Petra $u First Faculty of Medicine, Institute of Medical Biochemistry and Laboratory Diagnostics, Charles University and General University Hospital in Prague, Prague, Czech Republic $u First Faculty of Medicine, Institute of Biology and Medical Genetics, Charles University and General University Hospital in Prague, Prague, Czech Republic
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