Prevalence of APC and PTEN Alterations in Urachal Cancer

Nagy, Nikolett; Reis, Henning; Hadaschik, Boris; Niedworok, Christian; Módos, Orsolya; Szendrői, Attila; Bíró, Krisztina; Hager, Thomas; Herold, Thomas; Ablat, Jason; Black, Peter C.; Okoń, Krzysztof; Tolkach, Yuri; Csizmarik, Anita; Oláh, Csilla; Keresztes, Dávid; Bremmer, Felix; Gaisa, Nadine T.; Kriegsmann, Joerg; Kovalszky, Ilona; Kiss, András; Tı́már, József; Szász, Marcell A.; Rink, Michael; Fisch, Margit; Nyírády, Péter; Szarvas, Tibor

doi:10.1007/s12253-020-00872-6

Cited by 12 publications

(13 citation statements)

References 29 publications

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“…Notably, the spectrum of molecular alterations in urachal tumors was more similar to primary urinary bladder adenocarcinoma and colorectal adenocarcinoma compared with conventional urothelial carcinoma [25]. Recurrent KRAS, NRAS, BRAF, APC, TP53, NF1, PTEN, and/or SMAD4 mutations were usually detected, meanwhile, TERT promoter and PIK3CA mutations, which were common in conventional urothelial carcinoma, were proved rare in UrC [22, 26-29]. This also explained the prognostic difference between the UrC and BC.…”

Section: Discussionmentioning

confidence: 99%

Clinical, Pathological, and Prognostic Analysis of Urachal Carcinoma

Shao

Liu

et al. 2021

Urol Int

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Objective: The aim of this study was to improve understanding the clinical, pathologic, and prognostic features of urachal carcinoma (UrC), a retrospectively descriptive study was done in 2 clinical centers. Methods: After excluding the 2 missed patients, the clinical and pathological data of 59 patients with UrC, who were diagnosed or treated at 2 clinical centers between 1986 and 2019, was retrospectively analyzed. SPSS 22.0 (IBM) and GraphPad Prism 8.0.1 were used for statistics and data visualization. Survival data were analyzed by the Kaplan-Meier method and Log-rank tests. Cox proportional hazards regression were performed for find risk factors on predicting the prognosis. Results: Of all 59 patients, 47 were male and 12 were female. The median age at diagnosis was 51.6 years (range: 22–84 years). Gross hematuria was the most common symptom (79.66%). The majority of urachal neoplasms were adenocarcinomas (94.92%). Forty-two patients (72.41%) underwent extended partial cystectomy with en bloc resection of the entire urachus. The mean follow-up was 52 months (3–277 months). Median overall survival was 52.8 months (4–93 months). The 3-year cancer-specific survival (CSS) rate and 5-year CSS rate were 69.1% and 61.2%. There was no significant difference among localized T stage, tumor histologic grade and surgical procedures in determining prognosis by survival analyze. While patients with high-risk TNM stage (local abdominal metastasis, lymph node metastasis, or distant metastasis) (p = 0.003) and positive surgical margin (p < 0.001) had significantly worse prognosis. Conclusions: The results indicate that high-risk TNM stage and positive surgical margin are risk predictors of prognosis. Localized T stage, histologic grade, and surgical procedure cause no significant effect on patient prognosis. The extended partial cystectomy is the recommended surgical approach for patients with UrC. Active multimodal treatments may improve the survival of patients with recurrent and metastatic disease.

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Section: Discussionmentioning

confidence: 99%

Clinical, Pathological, and Prognostic Analysis of Urachal Carcinoma

Shao

Liu

et al. 2021

Urol Int

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“…Nagy et al. analyzed 40 MUT cases and revealed the prevalence of APC and PTEN gene alternation ( 26 ). Henning Reis et al.…”

Section: Discussionmentioning

confidence: 99%

Treatment Outcome of Different Chemotherapy in Patients With Relapsed or Metastatic Malignant Urachal Tumor

et al. 2021

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BackgroundMalignant urachal tumor is a rare subtype of genitourinary cancer. Our aim was to explore the optimal chemotherapy regimens for relapsed or metastatic urachal carcinoma.Materials and MethodsWe retrospectively enrolled 24 adult patients with relapsed or metastatic urachal carcinoma from January 2014 to September 2020 at Sun Yat-sen University Cancer Center. We summarized the chemotherapy regimens and classified them as fluorouracil based, platinum based, and paclitaxel based. Nine patients received XELOX (capecitabine and oxaliplatin) regimens, seven patients received TX (paclitaxel and capecitabine) regimens, and eight of them received chemotherapy including GP (gemcitabine and cisplatin), TP (paclitaxel and cisplatin), TN (paclitaxel and nedaplatin), and tislelizumab.ResultsThe disease control rate was 75%. Among all patients, one patient treated with XELOX achieved partial remission (PR), while 17 patients showed stable disease. The median progression-free survival (PFS) and overall survival (OS) in all treated patients was 7.43 and 29.7 months, respectively. The patients receiving first-line platinum-based chemotherapy presented better PFS than those without platinum (median PFS 8.23 vs. 3.80 months, p = 0.032), but not significant for OS between two groups. There is no significant difference in PFS and OS for fluorouracil-based and paclitaxel-based groups as first-line regimen. Next-generation gene sequencing revealed TP53 mutation and low tumor mutational burden in five out of seven cases.ConclusionThe platinum-based chemotherapy regimen is effective for relapsed or metastatic urachal carcinoma.

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“…These differences have to be kept in mind when applying the technology in this scenario. However, considering the third aim of the study, the diagnostic accuracy of taurine levels measured by MALDI-MSI considerably outperforms currently available adjunctive technologies such as immunohistochemistry of beta-catenin or CK7 [ 4 , 36 , 37 ].…”

Section: Discussionmentioning

confidence: 99%

A new technological approach in diagnostic pathology: mass spectrometry imaging-based metabolomics for biomarker detection in urachal cancer

Neumann

Niehaus

Neumann

et al. 2021

Laboratory Investigation

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Urachal adenocarcinomas (UrC) are rare but aggressive. Despite being of profound therapeutic relevance, UrC cannot be differentiated by histomorphology alone from other adenocarcinomas of differential diagnostic importance. As no reliable tissue-based diagnostic biomarkers are available, we aimed to detect such by integrating mass-spectrometry imaging-based metabolomics and digital pathology, thus allowing for a multimodal approach on the basis of spatial information. To achieve this, a cohort of UrC (n = 19) and colorectal adenocarcinomas (CRC, n = 27) as the differential diagnosis of highest therapeutic relevance was created, tissue micro-arrays (TMAs) were constructed, and pathological data was recorded. Hematoxylin and eosin (H&E) stained tissue sections were scanned and annotated, enabling an automized discrimination of tumor and non-tumor areas after training of an adequate algorithm. Spectral information within tumor regions, obtained via matrix-assisted laser desorption/ionization (MALDI)-Orbitrap-mass spectrometry imaging (MSI), were subsequently extracted in an automated workflow. On this basis, metabolic differences between UrC and CRC were revealed using machine learning algorithms. As a result, the study demonstrated the feasibility of MALDI-MSI for the evaluation of FFPE tissue in UrC and CRC with the potential to combine spatial metabolomics data with annotated histopathological data from digitalized H&E slides. The detected Area under the curve (AUC) of 0.94 in general and 0.77 for the analyte taurine alone (diagnostic accuracy for taurine: 74%) makes the technology a promising tool in this differential diagnostic dilemma situation. Although the data has to be considered as a proof-of-concept study, it presents a new adoption of this technology that has not been used in this scenario in which reliable diagnostic biomarkers (such as immunohistochemical markers) are currently not available.

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Prevalence of APC and PTEN Alterations in Urachal Cancer

Cited by 12 publications

References 29 publications

Clinical, Pathological, and Prognostic Analysis of Urachal Carcinoma

Clinical, Pathological, and Prognostic Analysis of Urachal Carcinoma

Treatment Outcome of Different Chemotherapy in Patients With Relapsed or Metastatic Malignant Urachal Tumor

A new technological approach in diagnostic pathology: mass spectrometry imaging-based metabolomics for biomarker detection in urachal cancer

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