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Urachal carcinoma: from gross specimen to morphologic, immunohistochemical, and molecular analysis

G. Riva, C. Mian, C. Luchini, I. Girolami, C. Ghimenton, L. Cima, L. Novelli, E. Hanspeter, G. Mazzoleni, C. Schwienbacher, S. Pycha, C. D'Elia, E. Trenti, A. Pycha, G. Martignoni, O. Hes, A. Eccher, G. Nesi, M. Brunelli,

. 2019 ; 474 (1) : 13-20. [pub] 20181009

Language English Country Germany

Document type Journal Article

Persistent link   https://www.medvik.cz/link/bmc19012284
E-resources Online Full text

NLK ProQuest Central from 2003-01-01 to 1 year ago
Medline Complete (EBSCOhost) from 2011-01-01 to 1 year ago
Nursing & Allied Health Database (ProQuest) from 2003-01-01 to 1 year ago
Health & Medicine (ProQuest) from 2003-01-01 to 1 year ago

Links

PubMed 30302546
DOI 10.1007/s00428-018-2467-1
Knihovny.cz E-resources

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.

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$a Riva, Giulio $u Pathology Unit, Department of Pathology and Diagnostics, University and Hospital Trust of Verona, P.le L.A. Scuro n. 10, 37134, Verona, Italy. riva23@hotmail.it.
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$a Urachal carcinoma: from gross specimen to morphologic, immunohistochemical, and molecular analysis / $c G. Riva, C. Mian, C. Luchini, I. Girolami, C. Ghimenton, L. Cima, L. Novelli, E. Hanspeter, G. Mazzoleni, C. Schwienbacher, S. Pycha, C. D'Elia, E. Trenti, A. Pycha, G. Martignoni, O. Hes, A. Eccher, G. Nesi, M. Brunelli,
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$a 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.
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$a Mian, Christine $u Department of Pathology, Central Hospital of Bolzano, Bolzano, Italy.
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$a Novelli, Luca $u Careggi Hospital, Institute of Histopathology and Molecular Diagnosis, Florence, Italy.
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$a Pycha, Stefan $u Faculty of Medicine, Riga Stradins University, Riga, Latvia.
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$a D'Elia, Carolina $u FEBU, Department of Urology, Central Hospital Bolzano, Bolzano, Italy.
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$a Martignoni, Guido $u Pathology Unit, Department of Pathology and Diagnostics, University and Hospital Trust of Verona, P.le L.A. Scuro n. 10, 37134, Verona, Italy. Department of Pathology, Pederzoli Hospital, Peschiera del Garda, Italy.
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$a Hes, Ondrej $u Sikl's Institute of Pathological Anatomy, University Hospital Plzen, Plzen, Czech Republic. Department of Pathology, Faculty of Medicine Plzen, Charles University, Plzen, Czech Republic.
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$a Nesi, Gabriella $u Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
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