CASE REPORT article

Front. Oncol., 21 April 2026

Sec. Genitourinary Oncology

Volume 16 - 2026 | https://doi.org/10.3389/fonc.2026.1744925

Treatment outcomes and next-generation sequencing of a rare malignancy - urachal carcinoma: case report and literature review

  • 1. School of Basic Medical Sciences, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan, China

  • 2. Department of Oncology, Affiliated Hospital of Southwest Jiaotong University, The Third People’s Hospital of Chengdu, Chengdu, Sichuan, China

  • 3. Department of Oncology & Cancer Institute, Sichuan Academy of Medical Sciences, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

  • 4. Jinfeng Laboratory, Chongqing, China

  • 5. Yu-Yue Pathology Scientific Research Center, Chongqing, China

  • 6. Integrative Cancer Center & Cancer Clinical Research Center, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

  • 7. Department of Pathology, Southwest Hospital, Army Medical University (Third Military Medical University), Chongqing, China

Abstract

UrC is a rare malignancy with uncertain pathogenesis. The main symptoms include gross hematuria, abdominal pain, and an abdominal mass. The lack of comprehensive clinical analysis necessitates selecting an optimal therapeutic strategy for each patient. Here, we present a comprehensive review of the clinical manifestations, diagnosis, and treatment of UrC, illustrated with a case successfully managed through surgical intervention and adjuvant chemoradiotherapy. Meanwhile, the analysis of NGS detected two tumor-specific mutated genes: MYC (gene amplification, CN: 59.5) and FLT1 (missense mutation, c.1061G>A (p.R354Q), abundance: 2.1%). These findings may provide insights into tumor growth and guide therapeutic strategies.

1 Introduction

During intrauterine development, the bladder descends into the pelvis and the urachus connects the umbilical to the bladder. Gradually, the urachus degenerates and forms a fibromuscular canal referred to as the median urachal ligament (1). In about one-third of adults, urachus residues still can be found, which makes the occurrence of UrC possible (2). UrC is rare in adults, with a significantly higher incidence in males. The patients are almost over 50 years old, and the pathological types are mucoid adenocarcinoma (69%), non-mucoid adenocarcinoma (15%), sarcoma (8%), transitional cell carcinoma (3%), squamous cell carcinoma (3%) and others (2%) (3). The secluded location and lack of early symptoms make UrC difficult to be detected and prone to recurrence and distant metastasis. In previous case reports, surgery was the main treatment method, and chemotherapy, radiotherapy or targeted therapy could be given selectively (4, 5). With the development of NGS, more tumor-related genetic mutations have been found and provide a high-resolution and global view of the cancer genome. However, data on clinical outcomes and genomic profiles in UrC are scarce due to its low incidence. Consequently, an adequate sample size is required to establish patterns in disease pathogenesis and therapeutic outcomes for future studies.

Here, we report a case of young female patient diagnosed with urachal mucinous cystadenocarcinoma. Following multimodal therapy, the patient remained disease-free with no evidence of recurrence or metastasis during four years of scheduled follow-up. Moreover, NGS analysis identified multiple gene mutations. These findings suggest implications for the pathogenesis and treatment of urachal mucinous cystadenocarcinoma. In conjunction with the present case, a comprehensive review of the literature related to UrC is provided. This review summarizes the clinical features and therapeutic approaches for UrC, and further analyzes the genetic alterations identified via NGS, providing a reference framework for managing this disease.

2 Case presentation

A 45-year-old woman with no significant previous medical history was sent to Southwest Hospital Urology Department in July 2021 due to recurrent painless gross hematuria. Both ultrasound and MRI revealed the presence of tumor mass in the anterior wall of the bladder. Besides, CT ureteral imaging also suggested the presence of a mass on the anterior wall of the bladder extending toward the umbilical (Figures 1A–D). Three-dimensional CT imaging also showed a clear soft tissue density shadow in the anterior wall of the bladder (Figure 1E), which increased the likelihood of UrC. She underwent robotic-assisted partial bladder and umbilical resection and bilateral pelvic lymph node dissection in July 2021. The surgically removed parts include part of the bladder, urachal, tumor, and umbilicus, and the lump size is about 3*2.9*2cm (Figure 2A). Postoperative pathological examination revealed urachal mucinous cystadenocarcinoma with tumor involvement extending through the full thickness of the adjacent bladder wall. Meanwhile, lymph node metastases were found on each side of the pelvic cavity. Hematoxylin-eosin (HE) staining indicated malignancy, consistent with mucinous cystadenocarcinoma of urachal origin (Figure 2B). Immuno-histochemistry (IHC) staining detected the positive expression of CDX-2, CK20, and Ki-67 (Figures 2C–E).

Figure 1

Figure 2

The NGS (Burning Stone Biotechnology, Guangzhou, China) was performed and the sequencing results identified two tumor-specific mutation genes: MYC (gene amplification, CN:59.5) and FLT1 [missense mutation, c.1061G>A (p.R354Q), abundance: 2.1%], but microsatellite instability index and other immune-related factors were not detected. Other mutations related to drug metabolism are shown in Table 1. For further treatment, this patient underwent two cycles of oxaliplatin and capecitabine chemotherapy at the original hospital in August 2021. Next, this patient was transferred to Sichuan Cancer Hospital in September 2021 and underwent PET-CT which showed that there was no distant metastasis (Figures 3A–D). Due to the positive pathological margin, the patient is receiving concurrent chemoradiotherapy. The chemotherapy regimen was gemcitabine + capecitabine. And radiation therapy regimens are as follows: the prescribed doses were 62.5 Gy to the positive lymph nodes of the gross tumor volume (GTVn), 62.5 Gy to the tumor bed clinical target volume (CTVtb), and 55 Gy to the high-risk clinical target volume (CTV1), delivered in 25 fractions. The irradiation was administered once daily, 5 days a week. Subsequently, the patient underwent two cycles of oxaliplatin and capecitabine chemotherapy. This patient underwent rigorous postoperative monitoring, including physical examinations, laboratory tests, and enhanced CT scans of the abdominal and pelvic cavity every 3 to 6 months. At the latest follow-up of 48 months, the patient was alive, and no significant treatment-related delayed toxicities were observed. And CT scan result showed no recurrence or metastasis, and the bladder showed postoperative changes (Figure 3E).

Table 1

GeneVariationMutantPrediction (chemotherapy effect)
GSTM1Homozygous deletion polymorphismBetter than wild type GSTM1 (Platinum)
GSTP1p.I105V (Heterozygous polymorphism)c.313A>G (p.I105V)Better than wild type GSTP1 (Platinum and Anthracycline)
MTHFRp.A222V (Homozygous polymorphism)c.665C>T (p.A222V)Better than wild type MTHFR (5-Fu);
Toxic effect (Methotrexate)
NQO1p.R139W (Heterozygous polymorphism)c.415C>T (p.R139W)Worse than wild type NQO1 (Mitomycin)
UGT1A1p.G71R (Heterozygous polymorphism)c.211G>A (p.G71R)Toxic effect (Irinotecan and Etoposide)
XRCC1p.Q399R (Homozygous polymorphism)c.1196A>G (p.Q399R)Better than wild type XRCC1 (Platinum)

Polymorphism of enzymes associated with drug metabolism from NGS.

Figure 3

3 Minireview of literature

As a rare malignant tumor, comprehensive understanding of UrC remains limited. The clinical manifestations of UrC are relatively hidden, typically presenting with urinary system symptoms, and are difficult to distinguish from bladder urothelial malignancies. While surgery serves as the primary treatment option, the evidence supporting therapeutic interventions for metastatic or advanced-stage disease is limited and inconsistent. Therefore, tailored treatment plans must be implemented based on individual patient characteristics. In addition, with the widespread adoption of genomic sequencing technologies, an increasing number of UrC-associated therapeutic targets have been identified. Thus, targeted therapy, immunotherapy, and other approaches might be crucial in the future treatment of UrC.

3.1 Clinical manifestations and diagnosis

For UrC, male patients are more common than females, and the common clinical symptoms include gross hematuria, abdominal pain, abdominal mass, dysuria, and other systemic symptoms such as nausea, fever, weight loss, or diarrhea (4). Based on the existing case analysis, cystoscopy plays an important role in the diagnosis of disease, and imaging tests such as computer tomography (CT), 18F-FDG PET CT, magnetic resonance imaging (MRI), and ultrasound are also essential (68). It has been reported that most UrCs are adenocarcinomas and have the same embryonic origin as the colon. Therefore, some gastrointestinal tumor markers can also be used to monitor the disease progression of UrC such as CEA, CA125, CA19-9, CA15-3, and alpha-fetoprotein. The most sensitive of them are CA19–9 and CEA (9, 10).

3.2 Tumor staging and prognosis

Currently, Sheldon and Mayo are the most common UrC staging systems (11, 12). The TNM staging of bladder cancer is not suitable for UrC (13). Recently, some scholars proposed a new TNM staging system that has a more balanced sample distribution and accurate correlation between staging and survival (14). Detailed information on various staging systems is shown in Table 2. Some epidemiological studies show significantly different survival between stage IIIA (-) and stage IIIB (+) disease (according to the Sheldon staging system) (15). Meanwhile, a retrospective analysis indicated that patients with positive surgical margins have a 60% lower 5-year survival rate than those with negative margins (16), suggesting that margin status may be an independent prognostic factor. In addition, lymph node or distant metastasis also influences the treatment and prognosis of UrC (6).

Table 2

Sheldon (11)Mayo (12)Ontario (42)New TNM staging (14)
I: no invasion beyond urachal mucosaI: confined to the urachus and/or bladderI: confined to the submucosaI: Limited to the urachal submucosa
II: invasion confined to urachusII: extending beyond the muscularis of the urachal and/or bladderII: confined to the muscular wall of the bladderII: invasion of bladder muscularis propria or microscopic invasion of
bladder perivesical tissue
III: extending to
A: bladder
B: abdominal wall
C: peritoneum
D: organs other than the bladder
III: infiltrating regional lymph nodesIII: extending into the peri-urachal or vesical soft tissueIII: macroscopic invasion of bladder perivesical tissue or invasion of adjacent tissues, including the uterus, vagina, and prostate
IV: metastasis to
A: lymph nodes
B: distant parts
IV: infiltrating of non-regional lymph nodes or distant metastasisIV: invasion of adjacent organs including the abdominal wallIV: invasion of any nodal or distant location, or of the pelvic, abdominal wall, or peritoneum

Various staging systems for urachal carcinoma.

3.3 Surgery and chemoradiotherapy

According to the NCCN Guidelines (Bladder Cancer Version 1. 2025), the recommended treatment for UrC is surgery or radiotherapy to achieve local control, combined with best supportive care. Current surgical approaches encompass extended partial cystectomy with en-bloc resection of the urachal mass, urachal remnant, and umbilicus, combined with pelvic lymph node dissection. For larger masses, radical cystectomy is recommended (7, 12). In fact, the guidelines indicate no current evidence supports the use of neoadjuvant or adjuvant chemotherapy in patients with pure adenocarcinoma of the bladder, including UrC. However, the following suggestions are given for systemic treatment strategies. For patients with node-positive pure adenocarcinoma, guidelines have consistently recommended the FOLFOX regimen (oxaliplatin, leucovorin, and fluorouracil) and the GemFLP regimen (fluorouracil, leucovorin, gemcitabine, and cisplatin) (17). For the metastatic, and advanced disease, consider using the NCCN Guidelines for Colon Cancer (https://www.nccn.org/professionals/physician_gls/pdf/bladder.pdf). Analysis of colon cancer adjuvant therapy guidelines reveals that CAPEOX (oxaliplatin and capecitabine) or FOLFOX regimens demonstrate superior efficacy over 5-FU/leucovorin in stage III colon cancer patients (18). Furthermore, the 3-month CAPEOX regimen maintains comparable efficacy while significantly reducing toxicity (19, 20).

This patient is classified as either Sheldon stage IVA or Mayo stage III. According to the guidelines and clinical case discussion, firstly, we surgically resected part of the bladder, urachal, tumor, and umbilicus. Subsequently, we administered oxaliplatin and capecitabine (CAPEOX regimen) chemotherapy to the patient, which enhances therapeutic efficacy and reduces toxicity. The drug metabolism information in Table 1 also suggests that certain gene mutations (GSTM1, GSTP1, and XRCC1) are associated with better responses to platinum. To reduce the risk of recurrence and metastasis associated with positive surgical margins and lymph node positivity, the patient underwent radiotherapy with adjuvant treatment of gemcitabine and capecitabine. After a four-year follow-up, the patient has shown no recurrence or metastasis. Previously, a meta-analysis of 1010 cases showed that, in the absence of effective radiotherapy, chemotherapy is the only treatment option with the potential to prolong survival (4). However, our case provides a useful reference for the radiotherapy management of UrC. Furthermore, some previous case reports have shown that 5-FU regimens are more effective than cisplatin-based chemotherapy regimens, and that the combination of antimetabolites and platinum chemotherapy drugs can produce the strongest anti-tumor effects. However, in the absence of prospective clinical trial data, treatment decisions must be individualized. Based on a comprehensive analysis of this clinical case, the patient presented with advanced tumor stage and positive surgical margins. Consequently, concurrent chemoradiotherapy was considered likely to significantly reduce the risk of recurrence and metastasis. Furthermore, the follow-up data to date demonstrate the efficacy of this regimen, with no evidence of recurrence or metastasis observed.

3.4 Targeted therapy based on genomic sequencing

Given the limited efficacy of chemotherapy for UrC, recent research has yielded important breakthroughs in exploring targeted therapeutic approaches. Genomic profiling studies have identified high-frequency driver mutations in UrC, including TP53 (70%), KRAS (28.3%), MYC (20.3%), SMAD4 (18.2%), and GNAS (18%) (21). Furthermore, studies have found that mutations in targetable genes such as EGFR, HER2, and BRCA are also present in UrC (21, 22). Inhibitors of related targets (such as EGFR inhibitors, PARP inhibitors, and MEK inhibitors) and immune checkpoint inhibitors have demonstrated preliminary clinical efficacy in case reports. For instance, responses to anti-EGFR therapy have been observed in patients harboring EGFR amplifications (4, 23). And another UrC patient with MSH6 mutation achieved stable disease after anti-PD-L1 therapy (23, 24). Recent investigations have revealed a predominantly immunosuppressive tumor microenvironment (TME) in UrC, characterized by an abundance of immunosuppressive immune cells, which provides a compelling rationale for PD-1/PD-L1 checkpoint blockade (25, 26).

In this case, NGS revealed a high copy number amplification of MYC (CN: 59.5). Additionally, a missense mutation in FLT1 (p.R354Q) was detected, although at a low variant allele frequency (VAF) of 2.1%. In bladder cancer patients, alterations in the MYC gene were observed in 7.06% of cases, with amplification (6.33%) and mutation (0.73%) being the most prevalent subtypes. In addition, alterations in the FLT1 gene were identified in 3.16% of cases, predominantly consisting of mutation (1.95%) and amplification (1.22%) [the information was obtained from cBioPortal (www.cbioportal.org)]. With additional NGS results from more cases, the molecular landscape of UrC can be further enriched. Ultimately contributing to the elucidation of its etiology and guiding clinical medication (27). These two genes are summarized as follows.

3.4.1 MYC

For MYC, the gene was altered in 6.57% of 594 cases of colorectal adenocarcinoma and 7.06% of 411 cases of bladder urothelial carcinoma. More than 50% of human malignancies have dysregulated MYC family oncogenes, which are linked to a poor prognosis and a low survival rate (28). Myc is involved in multiple processes of tumor progression, such as proliferation, apoptosis, differentiation, and metabolism. Additionally, MYC can increase immunosuppressive cytokines like TGFβ and decrease the production of antigen-presenting proteins like MHC I, which prevents cytotoxic T cells from acting and encourages immune evasion (2931). Therapeutic drugs directly targeting MYC are under development, and their clinical efficacy remains to be verified (29). Encouragingly, scientists from Spain have developed a new therapy (Omomyc) targeting MYC-MAX heterodimer to inhibit MYC gene, which is most promising for clinical application (29, 32). Other promising candidates include inhibitors of the PI3K–AKT–mTOR pathway, inhibitors of the translation initiator eIF4A (silvestrol), PIN1 inhibitors, antisense oligonucleotides, etc. (33, 34). In contrast to colorectal and bladder tumors, MYC is markedly elevated in UrC and might be a special indicator of UrC (35).

3.4.2 FLT1

For FLT1 (fms-like tyrosine kinase), the gene was altered in 9.26% of 594 cases of colorectal adenocarcinoma and 3.16% of 411 cases of bladder urothelial carcinoma. Although the FLT1 (p.R354Q) mutation was detected in this patient, the VAF was only 2.1%, suggesting that the FLT1 mutation is likely subclonal and present in only a minority of tumor cells. Nevertheless, this finding underscores the intratumoral heterogeneity characteristic of complex solid tumors.

This gene encodes tyrosine kinase receptors which have been identified as high-affinity VEGF receptors (36). The VEGFR family consists of three receptors, namely VEGFR1 (FLT1), VEGFR2 (KDR/FLK1), and VEGFR3 (FLT4) (37). The role of FLK1 and VEGFA in tumor angiogenesis has been fully confirmed, however, the signal transmission related to FLT1 is still controversial. Currently, research has revealed that FLT1 is highly associated with embryonic vasculogenesis, macrophage function, and the pre-metastatic niche. Meanwhile, FLT1 inhibits angiogenesis in endothelial cells due to inadequate tyrosine phosphorylation (38, 39). NGS identified a missense variant (p.R354Q) in the FLT1 gene, resulting in an amino acid substitution within the I-SET domain. The I-SET domain, an immunoglobulin-like structural motif, is conserved across diverse protein families, including receptor tyrosine kinases, hemolin, titin, telokin, twitchin, and axonin-1 (40). This domain plays crucial roles in mediating cellular recognition, receptor interactions, muscle architecture, and immune system function (41). A retrospective study suggests that targeting FLT1 and PlGF can inhibit tumor growth. Currently available drugs targeting FLT1 include cabozantinib, cediranib, midostaurin, etc., but their clinical effectiveness needs further confirmation (37). The missense variant of this gene may render FLT1-targeted drugs ineffective.

Although the current evidence for targeted and immunotherapeutic interventions in UrC remains limited to isolated cases, these collective findings herald the advent of the era of precision medicine in UrC management. Unfortunately, no suitable targeted drugs are currently available for this case.

4 Conclusions

UrC is a rare tumor with a poor prognosis. Currently, surgery is the preferred treatment method, and chemotherapy and radiotherapy can stabilize the condition to a certain extent. However, due to a lack of extensive clinical analysis, the treatment of this disease remains to be further explored. For different patients, reasonable chemoradiotherapy regimens may reduce the risk of postoperative recurrence and metastasis. This patient underwent a multimodal treatment approach involving surgery, adjuvant chemotherapy, and concurrent chemoradiotherapy, which resulted in a four-year disease-free survival. This favorable outcome suggests that this regimen may achieve durable disease control with manageable toxicity for this rare urachal malignancy. In addition, mutational analysis of individual targets and diverse pathways suggests the promising potential of targeted therapy as a future alternative. Therefore, future investigations should focus on characterizing the molecular features of UrC, investigating its oncogenic processes, and improving clinical decision-making.

Statements

Data availability statement

The original contributions presented in the study are included in the article/supplementary material, further inquiries can be directed to the corresponding author/s.

Ethics statement

The studies involving humans were approved by Ethics Committee of Medical Research and New Medical Technology of Sichuan Cancer Hospital. The studies were conducted in accordance with the local legislation and institutional requirements. The human samples used in this study were acquired from primarily isolated as part of your previous study for which ethical approval was obtained. Written informed consent for participation was not required from the participants or the participants’ legal guardians/next of kin in accordance with the national legislation and institutional requirements. Written informed consent was obtained from the individual(s) for the publication of any potentially identifiable images or data included in this article. Written informed consent was obtained from the participant/patient(s) for the publication of this case report.

Author contributions

TT: Writing – original draft, Writing – review & editing. XP: Writing – original draft. DS: Data curation, Writing – review & editing. LZ: Investigation, Writing – review & editing. JC: Investigation, Writing – review & editing. HW: Supervision, Writing – review & editing. CC: Supervision, Validation, Visualization, Writing – review & editing, Writing – original draft. SX: Investigation, Resources, Writing – review & editing. CX: Supervision, Writing – original draft, Writing – review & editing.

Funding

The author(s) declared that financial support was received for this work and/or its publication. This work was supported by the National Key Research and Development Program of China Stem Cell and Translational Research (2023YFC3402100), the National Natural Science Foundation of China (nos. 82541044), the Sichuan Province Natural Science Foundation key project (2024NSFSC0057), and the Major project of Chongqing Natural Science Foundation (CSTB2024TIAD-KPX0029).

Conflict of interest

The author(s) declared that this work was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Generative AI statement

The author(s) declared that generative AI was used in the creation of this manuscript. The author(s) declare that Generative AI was used in the creation of this manuscript. During the preparation of this work, the authors used ChatGPT (OpenAI, GPT-5, 2025 version) to improve the language and clarity of the manuscript. After using this tool, the authors reviewed and edited the content as needed and take full responsibility for the content of the publication.

Any alternative text (alt text) provided alongside figures in this article has been generated by Frontiers with the support of artificial intelligence and reasonable efforts have been made to ensure accuracy, including review by the authors wherever possible. If you identify any issues, please contact us.

Publisher’s note

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article, or claim that may be made by its manufacturer, is not guaranteed or endorsed by the publisher.

Supplementary material

The Supplementary Material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fonc.2026.1744925/full#supplementary-material

References

  • 1

    MoreiraICoelhoSRodriguesÂ.PatrãoASMaurícioMJ. Urachal carcinoma: A case of a rare neoplasm. Curr Probl Cancer. (2021) 45:100711. doi: 10.1016/j.currproblcancer.2021.100711

  • 2

    ClapsMStellatoMZattarinEMennittoASepePGuadalupiVet al. Current understanding of urachal adenocarcinoma and management strategy. Curr Oncol Rep. (2020) 22:9. doi: 10.1007/s11912-020-0878-z

  • 3

    GopalanASharpDSFineSWTickooSKHerrHWReuterVEet al. Urachal carcinoma: a clinicopathologic analysis of 24 cases with outcome correlation. Am J Surg Pathol. (2009) 33:659–68. doi: 10.1097/PAS.0b013e31819aa4ae

  • 4

    SzarvasTMódosONiedworokCReisHSzendröiASzászMAet al. Clinical, prognostic, and therapeutic aspects of urachal carcinoma-A comprehensive review with meta-analysis of 1,010 cases. Urol Oncol. (2016) 34:388–98. doi: 10.1016/j.urolonc.2016.04.012

  • 5

    HatanoAWakakiKMiyajimaNKomatsuS. Relapsed urachal carcinoma responding to first-line chemotherapy with capecitabine-oxaliplatin plus bevacizumab. IJU Case Rep. (2023) 6:345–8. doi: 10.1002/iju5.12619

  • 6

    ReisHSzarvasT. Urachal cancer-current concepts of a rare cancer. Pathologe. (2019) 40:31–9. doi: 10.1007/s00292-018-0516-9

  • 7

    SuartzCVMartinezLMSilvestreMHLLimaRDBritoPHSGalhardoKAet al. Urachal carcinomas: A comprehensive systematic review and meta-analysis. Int Braz J Urol. (2025) 51:2–4. doi: 10.1590/s1677-5538.Ibju.2024.0665

  • 8

    ChenXWahafuWShenYFanJYaoX. CACA guidelines for holistic integrative management of urothelial carcinoma. Holistic Integr Oncol. (2024) 3:9. doi: 10.1007/s44178-024-00075-y

  • 9

    ReisHKrafftUNiedworokCMódosOHeroldTBehrendtMet al. Biomarkers in urachal cancer and adenocarcinomas in the bladder: A comprehensive review supplemented by own data. Dis Markers. (2018) 2018:7308168. doi: 10.1155/2018/7308168

  • 10

    TestaIVerzoniEGrassiPColecchiaMPanzoneFProcopioG. Response to targeted therapy in urachal adenocarcinoma. Rare Tumors. (2014) 6:5529. doi: 10.4081/rt.2014.5529

  • 11

    SheldonCAClaymanRVGonzalezRWilliamsRDFraleyEE. Malignant urachal lesions. J Urol. (1984) 131:18. doi: 10.1016/s0022-5347(17)50167-6

  • 12

    AshleyRAInmanBASeboTJLeibovichBCBluteMLKwonEDet al. Urachal carcinoma: clinicopathologic features and long-term outcomes of an aggressive Malignancy. Cancer. (2006) 107:712–20. doi: 10.1002/cncr.22060

  • 13

    Siefker-RadtkeA. Urachal adenocarcinoma: a clinician’s guide for treatment. Semin Oncol. (2012) 39:619–24. doi: 10.1053/j.seminoncol.2012.08.011

  • 14

    LimonnikVSamieiAAbelSWegnerREVemanaGMaoSS. Urachal carcinoma: A novel staging system utilizing the National Cancer Database. Cancer Med. (2023) 12:2752–60. doi: 10.1002/cam4.5164

  • 15

    BruinsHMVisserOPloegMHulsbergen-van de KaaCAKiemeneyLAWitjesJA. The clinical epidemiology of urachal carcinoma: results of a large, population based study. J Urol. (2012) 188:1102–7. doi: 10.1016/j.juro.2012.06.020

  • 16

    HerrHWBochnerBHSharpDDalbagniGReuterVE. Urachal carcinoma: contemporary surgical outcomes. J Urol. (2007) 178:74–8. doi: 10.1016/j.juro.2007.03.022

  • 17

    FlaigTWSpiessPEAbernMAgarwalNBangsRBuyyounouskiMKet al. NCCN guidelines® Insights: bladder cancer, version 3.2024. J Natl Compr Canc Netw. (2024) 22:216–25. doi: 10.6004/jnccn.2024.0024

  • 18

    AndréTBoniCMounedji-BoudiafLNavarroMTaberneroJHickishTet al. Oxaliplatin, fluorouracil, and leucovorin as adjuvant treatment for colon cancer. N Engl J Med. (2004) 350:2343–51. doi: 10.1056/NEJMoa032709

  • 19

    Maindrault-GoebelFde GramontALouvetCAndréTCarolaEGillesVet al. Evaluation of oxaliplatin dose intensity in bimonthly leucovorin and 48-hour 5-fluorouracil continuous infusion regimens (FOLFOX) in pretreated metastatic colorectal cancer. Oncology Multidisciplinary Research Group (GERCOR). Ann Oncol. (2000) 11:1477–83. doi: 10.1023/a:1026520812351

  • 20

    HallerDGTaberneroJMarounJde BraudFPriceTVan CutsemEet al. Capecitabine plus oxaliplatin compared with fluorouracil and folinic acid as adjuvant therapy for stage III colon cancer. J Clin Oncol. (2011) 29:1465–71. doi: 10.1200/jco.2010.33.6297

  • 21

    ZhengYPengHHuXOuYWangDWangHet al. Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma. Front Pharmacol. (2023) 14:1199395. doi: 10.3389/fphar.2023.1199395

  • 22

    VaradiMNagyNReisHHadaschikBNiedworokCModosOet al. Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas. Cancer Med. (2023) 12:9041–54. doi: 10.1002/cam4.5639

  • 23

    LiJWeiYZhangJChenCWangDXieCet al. Adjuvant chemo-radiation therapy provided good local control and survival for a young patient with advanced urachal carcinoma: A case report and literature review. Clin Genitourin Cancer. (2020) 18:e303–8. doi: 10.1016/j.clgc.2019.12.014

  • 24

    KardosJWobkerSEWoodsMENielsenMESmithABWallenEMet al. Comprehensive molecular characterization of urachal adenocarcinoma reveals commonalities with colorectal cancer, including a hypermutable phenotype. JCO Precis Oncol. (2017) 1:6. doi: 10.1200/po.17.00027

  • 25

    ZhangXWangSNieRCQuCChenJYangYet al. Immune microenvironment characteristics of urachal carcinoma and its implications for prognosis and immunotherapy. Cancers (Basel). (2022) 14:6. doi: 10.3390/cancers14030615

  • 26

    LiDShaoFYuQWuRTuoZWangJet al. The complex interplay of tumor-infiltrating cells in driving therapeutic resistance pathways. Cell Commun Signal. (2024) 22:405. doi: 10.1186/s12964-024-01776-7

  • 27

    SzakállasNBartákBKValczGNagyZBTakácsIMolnárB. Can long-read sequencing tackle the barriers, which the next-generation could not? A Rev Pathol Oncol Res. (2024) 30:1611676. doi: 10.3389/pore.2024.1611676

  • 28

    ChenHLiuHQingG. Targeting oncogenic Myc as a strategy for cancer treatment. Signal Transduct Target Ther. (2018) 3:6. doi: 10.1038/s41392-018-0008-7

  • 29

    DhanasekaranRDeutzmannAMahauad-FernandezWDHansenASGouwAMFelsherDW. The MYC oncogene - the grand orchestrator of cancer growth and immune evasion. Nat Rev Clin Oncol. (2022) 19:2336. doi: 10.1038/s41571-021-00549-2

  • 30

    ReimannMLeeSLoddenkemperCDörrJRTaborVAichelePet al. Tumor stroma-derived TGF-beta limits myc-driven lymphomagenesis via Suv39h1-dependent senescence. Cancer Cell. (2010) 17:262–72. doi: 10.1016/j.ccr.2009.12.043

  • 31

    BernardsRDessainSKWeinbergRA. N-myc amplification causes down-modulation of MHC class I antigen expression in neuroblastoma. Cell. (1986) 47:667–74. doi: 10.1016/0092-8674(86)90509-x

  • 32

    SoucekLWhitfieldJRSodirNMMassó-VallésDSerranoEKarnezisANet al. Inhibition of Myc family proteins eradicates KRas-driven lung cancer in mice. Genes Dev. (2013) 27:504–13. doi: 10.1101/gad.205542.112

  • 33

    PourdehnadMTruittMLSiddiqiINDuckerGSShokatKMRuggeroD. Myc and mTOR converge on a common node in protein synthesis control that confers synthetic lethality in Myc-driven cancers. Proc Natl Acad Sci U.S.A. (2013) 110:11988–93. doi: 10.1073/pnas.1310230110

  • 34

    KohCMSabòAGuccioneE. Targeting MYC in cancer therapy: RNA processing offers new opportunities. Bioessays. (2016) 38:266–75. doi: 10.1002/bies.201500134

  • 35

    LeeSLeeJSimSHLeeYMoonKCLeeCet al. Comprehensive somatic genome alterations of urachal carcinoma. J Med Genet. (2017) 54:572–8. doi: 10.1136/jmedgenet-2016-104390

  • 36

    KeytBANguyenHVBerleauLTDuarteCMParkJChenHet al. Identification of vascular endothelial growth factor determinants for binding KDR and FLT-1 receptors. Generation of receptor-selective VEGF variants by site-directed mutagenesis. J Biol Chem. (1996) 271:5638–46. doi: 10.1074/jbc.271.10.5638

  • 37

    FischerCMazzoneMJonckxBCarmelietP. FLT1 and its ligands VEGFB and PlGF: drug targets for anti-angiogenic therapy? Nat Rev Cancer. (2008) 8:942–56. doi: 10.1038/nrc2524

  • 38

    YeXFanFBhattacharyaRBellisterSBoulbesDRWangRet al. VEGFR-1 pseudogene expression and regulatory function in human colorectal cancer cells. Mol Cancer Res. (2015) 13:1274–82. doi: 10.1158/1541-7786.Mcr-15-0061

  • 39

    RahimiNGoldeTEMeyerRD. Identification of ligand-induced proteolytic cleavage and ectodomain shedding of VEGFR-1/FLT1 in leukemic cancer cells. Cancer Res. (2009) 69:2607–14. doi: 10.1158/0008-5472.Can-08-2905

  • 40

    FreigangJProbaKLederLDiederichsKSondereggerPWelteW. The crystal structure of the ligand binding module of axonin-1/TAG-1 suggests a zipper mechanism for neural cell adhesion. Cell. (2000) 101:425–33. doi: 10.1016/s0092-8674(00)80852-1

  • 41

    TeichmannSAChothiaC. Immunoglobulin superfamily proteins in Caenorhabditis elegans. J Mol Biol. (2000) 296:1367–83. doi: 10.1006/jmbi.1999.3497

  • 42

    PinthusJHHaddadRTrachtenbergJHolowatyEBowlerJHerzenbergAMet al. Population based survival data on urachal tumors. J Urol. (2006) 175:2042–7. doi: 10.1016/s0022-5347(06)00263-1

Summary

Keywords

chemoradiotherapy, FLT1, MYC, next-generation sequencing, targeted therapy, Urachal carcinoma

Citation

Tan T, Peng X, Shang D, Zheng L, Chen J, Wu H, Cao C, Xu S and Xu C (2026) Treatment outcomes and next-generation sequencing of a rare malignancy - urachal carcinoma: case report and literature review. Front. Oncol. 16:1744925. doi: 10.3389/fonc.2026.1744925

Received

12 November 2025

Revised

27 February 2026

Accepted

09 March 2026

Published

21 April 2026

Volume

16 - 2026

Edited by

Dechao Feng, University College London, United Kingdom

Reviewed by

Rajesh Kumar, Kerala University of Health Sciences, India

Kaiwen Xiao, Second Affiliated Hospital of Nanchang University, China

Updates

Copyright

*Correspondence: Chenhui Cao, ; Senlin Xu, ; Chuan Xu,

†These authors have contributed equally to this work

Disclaimer

All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

Outline

Figures

Cite article

Copy to clipboard


Export citation file


Share article

Article metrics