Urachal carcinoma: from gross specimen to morphologic, immunohistochemical, and molecular analysis
- 252 Downloads
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.
- 2.Sheldon CA, Clayman RV, Gonzalez R, et al (1984) Malignant urachal lesions. J Urol 131(1): 1–8Google Scholar
- 3.Schnur J, Nguyen S, Divino C, Heimann T, Vidal C (2009) Coexisting rectal and urachal carcinoma: a case report. Am J Clin Oncol 32:220–221. https://doi.org/10.1097/01.coc.0000230170.25322.cd CrossRefGoogle Scholar
- 5.Kamat AM (2013) Commentary on “the clinical epidemiology of urachal carcinoma: results of a large, population based study.” bruins HM, Visser O, Ploeg M, Hulsbergen-van de Kaa CA, Kiemeney LA, Witjes JA, Department of Urology, Radboud University medical Centre, Utrecht. Urol Oncol Semin Orig Investig 31:720CrossRefGoogle Scholar
- 11.Darwanto A, Hein AM, Strauss S, Kong Y, Sheridan A, Richards D, Lader E, Ngowe M, Pelletier T, Adams D, Ricker A, Patel N, Kühne A, Hughes S, Shiffman D, Zimmermann D, te Kaat K, Rothmann T (2017) Use of the QIAGEN GeneReader NGS system for detection of KRAS mutations, validated by the QIAGEN Therascreen PCR kit and alternative NGS platform. BMC Cancer 17:358. https://doi.org/10.1186/s12885-017-3328-z CrossRefGoogle Scholar
- 13.Martín LB, Valbuena L, Castañón LB (2015) Urachal adenocarcinoma of the bladder, our experience in 20 years. Arch Esp Urol 68:178–182Google Scholar
- 19.Begg C (1930) The Urachus : its anatomy , histology and development. J Anat 64:170–183Google Scholar
- 25.Behrendt MA, De Jong J, Van Rhijn BWG (2016) Urachal cancer: contemporary review of the pathological, surgical, and prognostic aspects of this rare disease. Minerva Urol Nefrol 68:172–184Google Scholar
- 27.Niu HT, Dong P, Wang JN, Huang J, Zeng YX (2016) Analysis of treatment and prognosis in post-operative patients with urachal carcinoma. Zhonghua Yi Xue Za Zhi 96:1923–1925. https://doi.org/10.3760/oma.j.issn.0376-2491.2016.24.011 Google Scholar
- 28.Bissonnette MLZ, Kocherginsky M, Tretiakova M, Jimenez RE, Barkan GA, Mehta V, Sirintrapun SJ, Steinberg GD, White KP, Stricker T, Paner GP (2013) The different morphologies of urachal adenocarcinoma do not discriminate genomically by micro-RNA expression profiling. Hum Pathol 44:1605–1611. https://doi.org/10.1016/j.humpath.2013.01.008 CrossRefGoogle Scholar
- 34.Yoshida Y, Yamanaka K, Ueda N et al (2014) A case of urachal carcinoma with multiple lung metastases treated by TS-l/CDDP chemotherapy. Acta Urol Jpn 60:147–150Google Scholar
- 35.Nakamura K, Terada N, Kobayash T et al (2013) Pseudomyxoma peritonei arising from urachal carcinoma. Acta Urol Jpn 59:657–662Google Scholar
- 38.Prakash MR, Vijayalaxmi SV, Maitreyee R, Ranjit KP (2014) Complex mucinous cystadenoma of undetermined malignant potential of the urachus: a rare case with review of the literature. Malays J Pathol 36:145–148Google Scholar
- 43.Collazo-Lorduy A, Castillo-Martin M, Wang L, Patel V, Iyer G, Jordan E, al-Ahmadie H, Leonard I, Oh WK, Zhu J, McBride RB, Cordon-Cardo C, Solit DB, Sfakianos JP, Galsky MD (2016) Urachal carcinoma shares genomic alterations with colorectal carcinoma and may respond to epidermal growth factor inhibition. Eur Urol 70:771–775. https://doi.org/10.1016/j.eururo.2016.04.037 CrossRefGoogle Scholar