Case Report: Early-onset bilateral and multifocal clear cell renal cell carcinoma in a carrier of the germline likely pathogenic CHEK2 splice-region variant NM_007194.4:c.846 + 4_846 + 7del
Abstract
Early-onset bilateral and multifocal clear cell renal cell carcinoma (ccRCC) is rare and suggests hereditary predisposition. We report a 36-year-old Polish male who presented with hematuria and flank pain. Imaging revealed a right renal mass; nephron-sparing surgery confirmed low-grade ccRCC (pT1a). One year later, multifocal left-sided ccRCC was diagnosed, requiring radical nephrectomy (pT1b). Germline testing identified a heterozygous likely pathogenic splice-region variant CHEK2 (NM_007194.4:c.846 + 4_846 + 7del). Functional data support aberrant splicing and reduced kinase activity. During 11 years of follow-up, the patient remained recurrence-free, with a stable Bosniak IIF lesion in the remaining kidney. This case documents the co-occurrence of early-onset bilateral and multifocal ccRCC with a germline likely pathogenic CHEK2 variant but does not establish a causal relationship. It underscores the value of comprehensive germline testing in atypical RCC and highlights the need for integrated germline-somatic studies to clarify whether CHEK2 variants are associated with renal cancer susceptibility.
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BibTeX
@article{czukiewska2026case,
title = {{Case Report: Early-onset bilateral and multifocal clear cell renal cell carcinoma in a carrier of the germline likely pathogenic CHEK2 splice-region variant NM_007194.4:c.846 + 4_846 + 7del}},
author = {Ewa Czukiewska and Jacek Kiś and Dominika Szczęśniak and Natalija Sawczuk-Napora and Magdalena Mroczek and Tymoteusz Czukiewski and Kinga Kuranty and Joanna Kozak and Małgorzata Nowak-Kępczyk and Agnieszka Kuźniar},
journal = {Frontiers in Oncology},
year = {2026},
month = nov,
doi = {10.3389/fonc.2026.1969693},
url = {https://www.frontiersin.org/articles/10.3389/fonc.2026.1969693},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Case Report: Early-onset bilateral and multifocal clear cell renal cell carcinoma in a carrier of the germline likely pathogenic CHEK2 splice-region variant NM_007194.4:c.846 + 4_846 + 7del
AU - Ewa Czukiewska
AU - Jacek Kiś
AU - Dominika Szczęśniak
AU - Natalija Sawczuk-Napora
AU - Magdalena Mroczek
AU - Tymoteusz Czukiewski
AU - Kinga Kuranty
AU - Joanna Kozak
AU - Małgorzata Nowak-Kępczyk
AU - Agnieszka Kuźniar
PY - 2026
DA - 2026/11/05
JO - Frontiers in Oncology
DO - 10.3389/fonc.2026.1969693
UR - https://www.frontiersin.org/articles/10.3389/fonc.2026.1969693
AB - Early-onset bilateral and multifocal clear cell renal cell carcinoma (ccRCC) is rare and suggests hereditary predisposition. We report a 36-year-old Polish male who presented with hematuria and flank pain. Imaging revealed a right renal mass; nephron-sparing surgery confirmed low-grade ccRCC (pT1a). One year later, multifocal left-sided ccRCC was diagnosed, requiring radical nephrectomy (pT1b). Germline testing identified a heterozygous likely pathogenic splice-region variant CHEK2 (NM_007194.4:c.846 + 4_846 + 7del). Functional data support aberrant splicing and reduced kinase activity. During 11 years of follow-up, the patient remained recurrence-free, with a stable Bosniak IIF lesion in the remaining kidney. This case documents the co-occurrence of early-onset bilateral and multifocal ccRCC with a germline likely pathogenic CHEK2 variant but does not establish a causal relationship. It underscores the value of comprehensive germline testing in atypical RCC and highlights the need for integrated germline-somatic studies to clarify whether CHEK2 variants are associated with renal cancer susceptibility.
SN - 2234-943X
ER -