Plasmacytoid urothelial carcinoma: a rapid autopsy case report with unique clinicopathologic and genomic profile

Autor: Stephanie L. Skala, Xuhong Cao, Arul M. Chinnaiyan, Caroline T. Simon, Yuanyuan Qiao, Zachery R. Reichert, Javed Siddiqui, Paul D. Killen, Hikmat Al-Ahmadie, Saravana M. Dhanasekaran, Jeffrey M. Jentzen, Sandra Camelo-Piragua, Rohit Mehra
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Diagnostic Pathology, Vol 14, Iss 1, Pp 1-10 (2019)
Diagnostic Pathology
ISSN: 1746-1596
DOI: 10.1186/s13000-019-0896-z
Popis: Background Rapid (“warm”) autopsies of patients with advanced metastatic cancer provide important insight into the natural history, pathobiology and histomorphology of disease in treatment-resistant tumors. Plasmacytoid urothelial carcinoma (PUC) is a rare variant of urothelial carcinoma characterized by neoplastic cells morphologically resembling plasma cells. PUC is typically aggressive, high-stage at presentation, and associated with poor outcomes. Recurrence is common in PUC, with the majority of recurrences occurring in the peritoneum. Case presentation Here, we report rapid autopsy findings from a patient with recurrent PUC. The patient had persistent pain after cystoprostatectomy, although initial post-operative imaging showed no evidence of disease. Imaging obtained shortly before his death showed only subtle growth along vascular tissue planes; however, extensive disease was seen on autopsy. Plasmacytoid tumor cells formed sheets involving many serosal surfaces. Molecular interrogation confirmed a mutation in CDH1 exon 12 leading to early truncation of the CDH1 protein in the tumor cells. Conclusions The sheet-like growth pattern of PUC makes early phases of disease spread much more difficult to capture on cross-sectional imaging. Alternative forms of surveillance may be required for detection of recurrent PUC, and providers may need to treat based on symptoms and clinical suspicion.
Databáze: OpenAIRE
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