Urachal carcinoma: from gross specimen to morphologic, immunohistochemical, and molecular analysis
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Urachal carcinoma (UrC) is an exceedingly rare neoplasm that develops from the urachus, an embryologic remnant of the urogenital sinus and allantois. The most commonly encountered histologic subtype is adenocarcinoma. The aim of this study is to characterize a series of UrC by morphology, immunohistochemistry, and molecular analysis. We retrospectively investigated seven cases of UrCs and assessed patient symptoms, imaging, histologic features, immunohistochemical profile, molecular characteristics, pathologic stages, and type of treatment. Immunostaining for CK7, CK20, Muc-2, CDX2, GATA3, β-catenin, and CK34βE12 was carried out on each neoplasm and on seven non-neoplastic urachal remnants as the control group. Additionally, a mutational analysis was performed using the QIAact Actionable Insights Tumor Panel Kit, which analyzes KRAS, NRAS, KIT, BRAF, PDGFRA, ALK, EGFR, ERBB2, PIK3CA, ERBB3, ESR1, and RAF1. Our cohort comprised five females and two males with a mean age of 64 years. UrCs consisted of two mucinous cystadenocarcinomas and five invasive, non-cystic adenocarcinomas. Carcinoma antigen expression profile was positive for CK20 and negative for CK34βE12 and GATA3 in all cases. Five of seven cases stained positively for Muc-2 and CDX2. On the contrary, non-neoplastic urachal remnants were immunoreactive for CK34βE12, CK7, and GATA3. Mutational analysis gave a positive result in four out of seven (57.1%) cases. All four positive tumors showed RAS mutation and one an additional mutation in PIK3CA. Urachal tumors exhibit peculiar morphologic, immunohistochemical, and molecular features. Due to the advanced stage at presentation, individualized treatment should be undertaken.
KeywordsUrachal carcinoma Immunohistochemistry Molecular RAS mutation
Riva G.: study design; data collection; data interpretation; manuscript preparation; literature search; review and approval of the final manuscript. Mian C.: study design; data collection; molecular analysis; data interpretation; review and approval of the final manuscript. Luchini C.: review and approval of the final manuscript. Girolami I.: review and approval of the final manuscript. Ghimenton C.: review and approval of the final manuscript. Cima L.: review and approval of the final manuscript. Novelli L.: review and approval of the final manuscript. Hanspeter E.: data collection; data interpretation; review and approval of the final manuscript. Mazzoleni G.: data collection; data interpretation; review and approval of the final manuscript. Schwienbacher C.: molecular analysis; data interpretation; review and approval of the final manuscript. Pycha S.: review and approval of the final manuscript. D’Elia C.: review and approval of the final manuscript. Trenti E.: review and approval of the final manuscript. Pycha A.: data collection; review and approval of the final manuscript. Eccher A.: study design; data collection; data interpretation; review and approval of the final manuscript. Nesi G.: review and approval of the final manuscript. Brunelli M.: review and approval of the final manuscript.
Internal Funding, Department of Pathology and Diagnostics, University and Hospital Trust of Verona, and Internal Funding, Department of Pathology, Central Hospital of Bolzano.
Compliance to ethical standards
All the procedures for this study were in accordance with the ethical standards of local institution (authorization no 36-2018, Bolzano) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Conflict of interest
The authors declare that they have no conflict of interests.
informed consent was acquired from patients in order to perform all investigations and to allow use of colected results.
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