IJU case reports · 2026
A Germline BRCA2 Pathogenic Variant Identified by Multigene Panel Testing in Upper Tract Urothelial Carcinoma.
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Matsuo Kazuna, Zennami Kenji, Yoshida Mii, Hatakeyama Miki, Morikawa Maki, Hattori Kyosuke, Akamatsu Shusuke
Аннотация
INTRODUCTION: Upper tract urothelial carcinoma (UTUC) is associated with Lynch syndrome; however, increasing evidence suggests broader genetic heterogeneity. Although multigene panel testing (MGPT) is increasingly adopted internationally, syndrome-specific genetic testing (SSGT) remains predominant in Japan, potentially limiting detection of non-Lynch hereditary variants. Appropriate selection for expanded germline evaluation remains challenging.
CASE PRESENTATION: A 41-year-old man with locally advanced UTUC underwent neoadjuvant chemotherapy followed by surgery. His family history included gastrointestinal and breast cancers and did not fit a single hereditary syndrome. Although SSGT was initially considered for Lynch syndrome, germline MGPT was performed after genetic counseling. MGPT identified a germline pathogenic BRCA2 frameshift variant, with no mismatch repair gene variants detected.
CONCLUSION: This case highlights the value of comprehensive germline evaluation in selected UTUC patients. Urologists should recognize atypical/mixed family histories and consider early genetic referral. Selective MGPT may improve identification of clinically actionable germline variants.
CASE PRESENTATION: A 41-year-old man with locally advanced UTUC underwent neoadjuvant chemotherapy followed by surgery. His family history included gastrointestinal and breast cancers and did not fit a single hereditary syndrome. Although SSGT was initially considered for Lynch syndrome, germline MGPT was performed after genetic counseling. MGPT identified a germline pathogenic BRCA2 frameshift variant, with no mismatch repair gene variants detected.
CONCLUSION: This case highlights the value of comprehensive germline evaluation in selected UTUC patients. Urologists should recognize atypical/mixed family histories and consider early genetic referral. Selective MGPT may improve identification of clinically actionable germline variants.