Dataset Information

A rare case of a clear cell carcinoma in a female urethral diverticulum.

ABSTRACT:

Introduction

Urethral clear cell carcinoma is rare and often arises from a urethral diverticulum and rarely from the Müllerian duct. However, an explanation for this correlation remains unknown.

Case presentation

We report the case of a 46-year-old woman who presented with hypermenorrhea. Magnetic resonance imaging revealed a papillary tumor in a cystic lesion in the dorsal urethra. We performed a robot-assisted radical cystourethrectomy and created an ileal conduit. Since pathological findings revealed microvascular and lymphovascular invasions around the urethra, adjuvant radiation therapy was administered. The patient showed no signs of recurrence or metastasis after treatment.

Conclusion

We report a case of clear cell carcinoma in a female urethral diverticulum originating from a Müllerian duct cyst. While postoperative radiation therapy has been shown to produce a good outcome in carcinoma cases similar to this one, we recommend that a radical cystourethrectomy be performed.

SUBMITTER: Gonda M

PROVIDER: S-EPMC9807343 | biostudies-literature | 2023 Jan

REPOSITORIES: biostudies-literature

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Publications

A rare case of a clear cell carcinoma in a female urethral diverticulum.

Gonda Masakazu M Etani Toshiki T Isogai Masahiko M Kawase Kengo K Nagai Takashi T Sugino Teruaki T Naiki Taku T Hamamoto Shuzo S Kawai Noriyasu N Yasui Takahiro T

IJU case reports 20221012 1

<h4>Introduction</h4>Urethral clear cell carcinoma is rare and often arises from a urethral diverticulum and rarely from the Müllerian duct. However, an explanation for this correlation remains unknown.<h4>Case presentation</h4>We report the case of a 46-year-old woman who presented with hypermenorrhea. Magnetic resonance imaging revealed a papillary tumor in a cystic lesion in the dorsal urethra. We performed a robot-assisted radical cystourethrectomy and created an ileal conduit. Since patholo ...[more]

PMID: 36605685

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Project description:Background and objectivePrevious germline studies on renal cell carcinoma (RCC) have usually pooled clear and non-clear cell RCCs and have not adequately accounted for population stratification, which might have led to an inaccurate estimation of genetic risk. Here, we aim to analyze the major germline drivers of RCC risk and clinically relevant but underexplored germline variant types.MethodsWe first characterized germline pathogenic variants (PVs), cryptic splice variants, and copy number variants (CNVs) in 1436 unselected RCC patients. To evaluate the enrichment of PVs in RCC, we conducted a case-control study of 1356 RCC patients ancestry matched with 16 512 cancer-free controls using approaches accounting for population stratification and histological subtypes, followed by characterization of secondary somatic events.Key findings and limitationsClear cell RCC patients (n = 976) exhibited a significant burden of PVs in VHL compared with controls (odds ratio [OR]: 39.1, p = 4.95e-05). Non-clear cell RCC patients (n = 380) carried enrichment of PVs in FH (OR: 77.9, p = 1.55e-08) and MET (OR: 1.98e11, p = 2.07e-05). In a CHEK2-focused analysis with European participants, clear cell RCC (n = 906) harbored nominal enrichment of low-penetrance CHEK2 variants-p.Ile157Thr (OR: 1.84, p = 0.049) and p.Ser428Phe (OR: 5.20, p = 0.045), while non-clear cell RCC (n = 295) exhibited nominal enrichment of CHEK2 loss of function PVs (OR: 3.51, p = 0.033). Patients with germline PVs in FH, MET, and VHL exhibited significantly earlier age of cancer onset than patients without germline PVs (mean: 46.0 vs 60.2 yr, p < 0.0001), and more than half had secondary somatic events affecting the same gene (n = 10/15, 66.7%). Conversely, CHEK2 PV carriers exhibited a similar age of onset to patients without germline PVs (mean: 60.1 vs 60.2 yr, p = 0.99), and only 30.4% carried somatic events in CHEK2 (n = 7/23). Finally, pathogenic germline cryptic splice variants were identified in SDHA and TSC1, and pathogenic germline CNVs were found in 18 patients, including CNVs in FH, SDHA, and VHL.Conclusions and clinical implicationsThis analysis supports the existing link between several RCC risk genes and RCC risk manifesting in earlier age of onset. It calls for caution when assessing the role of CHEK2 due to the burden of founder variants with varying population frequency. It also broadens the definition of the RCC germline landscape of pathogenicity to incorporate previously understudied types of germline variants.Patient summaryIn this study, we carefully compared the frequency of rare inherited mutations with a focus on patients' genetic ancestry. We discovered that subtle variations in genetic background may confound a case-control analysis, especially in evaluating the cancer risk associated with specific genes, such as CHEK2. We also identified previously less explored forms of rare inherited mutations, which could potentially increase the risk of kidney cancer.

Dataset Information

A rare case of a clear cell carcinoma in a female urethral diverticulum.

Introduction

Case presentation

Conclusion

Publications

A rare case of a clear cell carcinoma in a female urethral diverticulum.

Similar Datasets

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