An occult urothelial carcinoma with wide multiorgan metastases and its genetic alteration profiling

Abstract

Rationale: Urothelial carcinoma, also named transitional cell carcinoma, is the most frequent occurring malignancy in the urinary system. It mainly invades the surrounding tissues and metastasizes to distant organs in later stages. Patient concerns: Here, we presented an unusual case of occult urothelial carcinoma primarily manifested as a multiorgan metastatic cancer in a 59-year-old man. The patient complained of pain on the left thigh root for a month. The imaging and histopathological examination revealed multiple malignancies in lung, bone, and liver. Diagnoses: The histological evaluation and the immunohistochemistry (IHC) profile of liver, lung, and bone were consistent with the diagnosis of metastases from the original urothelial cancer, while imaging examination was not able to detect a primary lesion in the urinary system. Interventions: Based on the mutation of STK11 M51Ifs∗106 detected by next generation sequencing (NGS), we started targeted therapy with everolimus. Outcomes: The patient deteriorated after 3 months of treatment and passed away. Lessons: In this initial report of occult urothelial carcinoma, we obtained information on genetic variations of tumor tissue which could provide important information for subsequent studies on this kind of disease.

Circulating tumor cells and cell-free tumor DNA analyses in urothelial cancer using the LiquidBiopsy platform

“…[34] A recent case report presented an unusual case of occult UC initially manifested as a multiorgan metastatic cancer without a detectable primary lesion in the urinary tract, in which targeted therapy with everolimus was given based on the mutation in STK11 detected by NGS. [35] Last but not least, it is relevant to discuss the differences in genomic alterations detected in CTC and ctDNA in the same blood samples. The majority of cfDNA (over 80% in healthy individuals) arises from hematopoietic cells.…”

Carcinoma urotelial metastático de sítio primário desconhecido: uma entidade rara

“…6 Porém, o caso relatado teve evolução destoante do esperado para esse tipo histológico. 7,8 Há somente dois casos de CUP urotelial relatados na literatura, também de homens de meia idade tabagistas, sugerindo um perfil de acometimento. 3,5 O tratamento padrão é quimioterápico com regime à base de cisplatina.…”

“…O paciente com maior expectativa de vida foi a óbito em 5 meses após o diagnóstico de CUP urotelial. 3,7 Trabalho realizado no…”

Detection of Ureteral Stump Transitional Cell Carcinoma, Presenting as Bone Metastases from Unknown Primary by 18F-FDG PET/CT: A Case Report with Review of Literature

“…It mostly invades the tissues and organs around the primary focus and rarely metastasizes to distant organs. Bone (∼35%) is the most common distant metastatic organ in advanced urothelial carcinoma, and the vertebrae are the most common site (∼40%) in all cases of bone metastasis, 12 whereas the reappearance of a primary malignant tumor of the ureteral stump after nephrectomy for a benign disease is extremely rare clinical situation. A primary tumor in the ureteric stump may be defined as one occurring in the residual ureter following nephrectomy or partial nephroureterectomy, where there has been no tumor of renal parenchyma, pelvis, or excised upper ureter.…”