Identification of Rare EIF3E::RSPO2 Fusion in Recurrent and Aggressive Urachal Adenocarcinoma.

INTRODUCTION: Urachal cancer (UC) is a rare genitourinary malignancy arising from the urachus, an embryonic remnant of the placental allantois. Its diagnosis remains ambiguous with late-stage cancer detection and represents a highly aggressive disease. Due to its rarity, there is no clear consensus on molecular signatures and appropriate clinical management of UC. CASE REPORT: We report a 45-year-old man with recurrent urachal adenocarcinoma (UA) treated with cystectomies, chemotherapy, and radiotherapy. The patient initially presented with hematuria and abdominal pain. Imaging revealed a nodular mass arising from the superior wall of the urinary bladder and extending to the urachus. Biopsy results suggested moderately differentiated UA with muscle layer involvement. The tumor recurred after 20 months, following which, another partial cystectomy was performed. Repeat progression was noted indicating highly aggressive disease. Targeted next-generation sequencing revealed the presence of EIF3E::RSPO2 fusion, along with BRAF and TP53 mutations, and EGFR gene amplification. This is the first case reporting the presence of this fusion in UA. Palliative medication and radiotherapy were administered to manage the disease. CONCLUSION: Current treatment modality of surgery may be effective in the early stages of recurrent UA; however, a standard chemotherapy and radiotherapy regimen is yet to be determined for advanced stages. The detection of the rare EIF3E::RSPO2 fusion warrants further studies on the significance of this variant as a possible therapeutic target for improved clinical management.

Acute Glomerulonephritis as a Paraneoplastic Syndrome Secondary to Urachal Adenocarcinoma: An Unknown Entity.

Urachal carcinoma is an uncommon malignancy with a peculiar biomolecular characterization and therefore a complex approach. It was incorporated by the World Health Organization in 2004 in the tumors of the urinary system classification. This neoplasm is generally diagnosed in advanced stages. The standard treatment is surgical, however, due to the rarity and relatively late clinical manifestation of urachal carcinomas, the survival data are mostly case reports, as well as information about medical-surgical treatment based on evidence. The data used were extracted from both the physical and electronic clinical records. Among atypical presentations reported in the literature, we report a case of urachal adenocarcinoma with simultaneous glomerulonephritis as a paraneoplastic syndrome of which there is no report to date. Surgery was carried out in our patient, unfortunately with lifetime morbidity from kidney function replacement secondary to kidney function damage by glomerulonephritis, despite previous immunosuppression treatment for rapidly progressive glomerulonephritis. It is worth mentioning that if the initial diagnosis represents a clinical challenge, treatment is even more complex, given the little information that currently exists about it. Urachal carcinoma is a diagnostic and treatment challenge. Up to now, surgery has been the treatment of choice in localized or locally advanced disease, however, with a high morbidity for the patient.

Primary urachal adenocarcinoma: Case report.

INTRODUCTION AND IMPORTANCE: Primary urachal adenocarcinoma (PUA) is a rare form of cancer that arises from the urachus, a vestigial remnant of the allantois and cloaca during embryonic development. The exact pathogenesis of PUA is not well understood, but it is believed to arise from glandular epithelium remnants within the urachus. The rarity of this type of cancer makes it difficult to comprehensively study its epidemiology. CASE PRESENTATION: This case report describes a 47-year-old male patient who presented with intermittent painless hematuria and fatigue for two months. Cystoscopy showed a single growth at the dome of the urinary bladder, and abdominopelvic CT scan with contrast revealed a 3*2 cm enhancing growth at the dome of the bladder suspicious of urachal origin tumor. The patient was diagnosed with urachal adenocarcinoma (PT2) after pathological examination. The patient underwent partial cystectomy and umbilicectomy. CLINICAL DISCUSSION: Patients with PUA often present with nonspecific symptoms that can delay the diagnosis. The most common symptom is hematuria, which is present in approximately two-thirds of the patients. The diagnosis of PUA is challenging and relies on a combination of clinical presentation, imaging, and histopathological examination. CONCLUSION: The mainstay of treatment for PUA is surgical resection, which may include partial cystectomy or radical cystectomy with en bloc resection of the urachus and umbilicus. It is esential to report all cases of primary urachal adenocrcinoma.

Robotic-assisted approaches to urachal carcinoma: A comprehensive systematic review of the safety and efficacy outcomes.

Introduction: Surgical intervention is the treatment of choice in patients with urachal carcinoma. Due to complications and to reduce hospital stay from open surgery, minimally invasive approaches are desirable. Nowadays, robotic-assisted surgery has become increasingly popular, and robot-assisted cystectomy can be performed in patients with urachal carcinoma with low complication rates. Methods: We performed a systematic review to search for studies that evaluated patients who underwent robotic-assisted surgery for urachal carcinoma. The outcomes of interest were the type of cystectomy performed, whether there was umbilicus resection, total operative time, console time, intraoperative complications, estimated blood loss, postoperative complications, time of hospitalisation, positive surgical margins and the presence of documented tumour recurrence. Results: In this study, we evaluated three cohorts comprising a total of 21 patients. The median follow-up period ranged from 8 to 40 months. Medium age was between 51 and 54 years, with a majority (63.1%) being male. One patient (5.2%) underwent a radical cystectomy, and 19 patients (94.7%) underwent to partial cystectomy. Umbilical resections were performed in all cases, and pelvic lymphadenectomy in 14 cases (73.6%). Recurrence occurred in three patients at a median of 17 months postoperation, two cases in the trocar insertion site. Additionally, there was one death, which was attributed to postoperative cardiovascular complications. Conclusion: Robotic-assisted partial cystectomy has a low incidence of adverse outcomes in patients with urachal carcinoma. Controlled studies, ideally randomised, are warranted to establish the comparative efficacy and safety of the robotic-assisted cystectomy approach relative to open surgery.

Urachal Adenocarcinoma: a Case Report and Review of the Literature.

Urachal adenocarcinoma is one of the rare and aggressive neoplasms that often presents at an advanced stage and has a poor prognosis. Urachal adenocarcinoma makes up 0.17 to 0.34% of all bladder carcinomas. Patients commonly present with hematuria. Wide local excision of urachal mass with umbilicus and surrounding soft tissue en bloc combined with partial or radical cystectomy and bilateral pelvic lymphadenectomy is considered to be the primary surgical management. However, many publications in literature report that en bloc removal of tumor with umbilicus, entire urachal ligament, and bladder dome alone has long-term survival and disease-free period. Here, we present a case of a 50-year-old post-menopausal female patient with a fungating mass in the umbilical region of size approximately 10 cm in maximum diameter with mucopurulent discharge from the mass. The patient had no history of any hematuria, mucinuria, burning micturition, or any particles in urine. A laparotomy was performed, and tumor mass along with the cuff of the bladder dome was removed as en bloc along with umbilectomy. This case report highlights a rare case of urachal adenocarcinoma with a fungating mass of large size in a female patient which is otherwise more commonly seen in males. A review of published literature is also presented.

Urachal Adenocarcinoma: A Rare Primary Cancer Managed With FOLFOX Chemotherapy.

Urachal adenocarcinoma (UA) represents a rare subset of bladder tumors involving a urachal remnant. Incidental gross hematuria is often the only presenting symptom, with patients often presenting late in their course, thereby imparting an overall poor prognosis. Although there are prior case reports, there is little literature reported and no standardized treatment guidelines. We report a case of a middle-aged male who presented with incidental gross hematuria after a fall. Workup indicated the presence of a calcified bladder dome mass and pathology reported a primary urachal adenocarcinoma with pelvic nodal involvement. Patient underwent surgical resection and subsequent adjuvant, systemic chemotherapy regimen with leucovorin, fluorouracil, and oxaliplatin (FOLFOX). We hope to bring greater awareness to this rare cause of bladder malignancy.

Pseudomyxoma Peritonei Arising from Urachal Mucinous Neoplasms: a Case Series and Updated Literature Review.

To report a case series of patients with pseudomyxoma peritonei (PMP) from urachal mucinous neoplasm (UMN) treated with CRS and HIPEC at a high-volume referral centre, along with an updated literature review. Retrospective review of cases treated between 2000 and 2021. A literature review using MEDLINE and Google Scholar databases was performed. Clinical presentation of PMP from UMN is heterogeneous, and common symptoms are abdominal distension, weight loss, fatigue and haematuria. At least one tumour marker among CEA, CA 19.9, and CA 125 was elevated in the six cases reported, and 5/6 had a preoperative working diagnosis of urachal mucinous neoplasm suspected on detailed cross-sectional imaging. Complete cytoreduction was achieved in five cases, while one patient underwent maximal tumour debulking. Histological findings mirrored the findings of PMP from appendiceal mucinous neoplasms (AMN). Overall survival ranged between 43 and 141 months after complete cytoreduction. On literature review, 76 cases have been reported to date. Complete cytoreduction is associated with good prognosis for patients with PMP from UMN. A definitive classification system is still not available. Supplementary Information: The online version contains supplementary material available at 10.1007/s13193-022-01694-5.

Surgical treatment of urachal remnants in an adult population-a single-centre experience.

BACKGROUND: Urachal remnants are a rare congenital defect resulting from failure of obliteration of a fibrous tube that connects the umbilicus to the bladder dome during embryological development. Oftentimes a urachal remnant will go undiagnosed, but occasionally a patient may present with a variety of symptoms, ultimately leading to the identification of the remnant. Given its rarity, there is very limited literature available on the management of symptomatic urachal remnants, especially in adults. Surgical resection has been the first-line management of urachal remnants for years, especially given the risk of the development of urachal adenocarcinoma secondary to recurrent infection, persistent irritation, and urinary stasis associated with some urachal remnants. AIM: We present our experience in the management of symptomatic urachal remnants in adults at our institute and perform a brief literature review of the same. METHODS: A retrospective review of all cases who underwent surgical management of symptomatic urachal remnants between December 2015 and January 2022 was performed. Seven cases of urachal remnant excision in total were identified over the time period. Patient characteristics and perioperative parameters were analysed. Post-operative complications were measured in accordance with the Clavien-Dindo grading system. RESULT: In total, 7 cases of urachal remnants were treated at our institute over the study period. Four patients were treated with a TURBT and 3 patients were treated with a laparoscopic partial cystectomy. There were no intraoperative complications and one post-operative complication requiring readmission for intravenous antibiotics. There was one mortality but this was not as a direct result of the operative procedure. Mean length of stay was 1.71 days. Two of patients had histologically confirmed urachal adenocarcinoma and the remaining five patients had benign histology. Each patient was seen in the outpatients department 6 weeks post-operatively for clinical review and review of histology. No further follow-up was required for the patients with benign histology given resolution of symptoms and follow-up for the malignant histology was arranged appropriately following MDM. CONCLUSION: There is a paucity of data available on the management of urachal remnants in the adult population; however, an endoscopic or laparoscopic approach is a safe and effective method of excising symptomatic urachal remnants.

Urachal Carcinoma, An Unusual Possibility of Hematuria; Case Report and Literature Review.

Urachal cancer is very rare, accounting for only 0.5-2% of bladder-associated malignancies and 0.01% of all cancers in adults. It has an insidious appearance, an aggressive behavior and a poor prognosis. The most common symptoms are hematuria and the presence of a palpable hypogastric mass. The scarcity of cases and the low number of studies carried out explains the lack of an evidence-based management strategy, but it seems that surgical treatment (open, laparoscopy or robot-assisted) represents the gold standard, while neoadjuvant and adjuvant chemotherapy or radiotherapy has a limited impact on overall survival. Since mucinous cystadenocarcinoma of urachal origin is a very uncommon pathological condition the differential diagnosis may be difficult and pathological investigations have to elucidate this disorder. It is worth mentioning the psychological impact on the patient in addition to the medical aspects. A rare condition is associated with heightened risk for mental health and psychosocial difficulties and this must be taken into account in the subsequent follow-up of the patient. In order to increase awareness of this rare entity we report a case of a 40-year-old male with a urachal adenocarcinoma who was treated surgically, with a favorable outcome. We also perform a brief literature review about this type of tumor.

A rare case of urachal mucinous adenocarcinoma detected by 18F-FDG PET/CT and MRI.

Urachal adenocarcinomas are rare cancers of the urinary bladder. Both CT and MRI are useful imaging modalities for the diagnosis and evaluation of urachal adenocarcinoma. Unlike CT or MR, there have been variable FDG PET findings with urachal tumours potentially due to considerable variation in their hypermetabolism. We present the case of a 24 year-old female patient who was diagnosed with urachal mucinous adenocarcinoma with characteristic features on CT and MRI which also exhibit moderately increased FDG avidity.

[A CASE OF URACHAL CARCINOMA WITH HIGH FREQUENCY MICROSATELLITE INSTABILITY (MSI-HIGH) TREATED BY PEMBROLIZUMAB].

A 75-year-old woman was admitted to our hospital with suspected gastrointestinal perforation and underwent emergency surgery. Bladder perforation was revealed during the surgery, and she was referred to our department. We detected a tumor on the apex of the bladder and performed partial resection of the bladder. Based on histopathological examination, a diagnosis of urachal cancer was established. Gemcitabine and cisplatin (GC) therapy was administered as an adjuvant therapy because of the high risk of peritoneal dissemination. She had the purulent spondylitis and gluteus medius abscess at the first course of GC therapy. We stopped GC therapy within the first course due to the adverse events and decreased performance status. Computed tomography revealed tumor recurrence in the pelvis three months after discontinuation of GC therapy. As the companion diagnostics revealed MSI-High, we administrated pembrolizumab. She was taking prednisolone 5 mg for SLE, but stable disease was observed after 5 courses of pembrolizumab. However, pembrolizumab was discontinued for eight months due to the stent graft insertion for the common iliac artery aneurysm. She had progressive disease after eight months interval of treatment. We restarted pembrolizumab but she was hospitalized for tumor fever after a total of eight courses. The patient died a month later. This seems to be the first case wherein pembrolizumab was administered for urachal cancer with MSI-High.

Umbilical sparing robotic partial cystectomy for localized urachal adenocarcinoma: A case report.

Urachal adenocarcinoma, the third most common histopathological type of non-urothelial bladder cancer, is often aggressive, presenting in advanced stages. Increased understanding of the embryologic origin of the tumor with concurrent advances in surgical technique have allowed partial cystectomy to become the gold standard of surgical treatment. However, the benefit of en bloc umbilectomy remains questionable. Here we present the diagnosis and management of 67- year old patient diagnosed with mucinous cystadenocarcinoma of the urachus treated with umbilical-sparing robotic partial cystectomy. We also provide a review of the existing literature on this rare tumor and its management.

Ovarian metastasis from a urachal adenocarcinoma primary in a young female.

Metastasis to the ovary from a bladder primary is extremely rare with limited case reports. The most common primary sites arise from stomach, colon or renal origin and usually occur from 40 years of age onwards. We report a case of an 18-year old woman with a right sided Krukenberg tumour from a bladder primary. This patient is much younger than any other case report of Krukenberg tumour and reiterates the need for early excision of urachal masses in all age groups.

Anterior wall adenocarcinoma of bladder with similar clinicopathological and prognostic characteristics as common bladder carcinomas should not be treated as or classified into urachal adenocarcinomas.

PURPOSE: To discuss whether the dome or anterior wall of bladder adenocarcinoma (BAC) should be classified into urachal carcinoma (UrC) and the relationship of primary tumor location (PTL) as well as treatment with survival. METHODS: Surveillance, Epidemiology, and End Results 18 database was examined for eligible patients from 1975 to 2016. Patients were classified into adenocarcinoma originating from the urachus (UAC), the dome (D-BAC), the anterior wall (A-BAC), and the other sites adenocarcinoma of the bladder (O-BAC). The clinicopathological features, treatment, and survival were compared among the groups. RESULTS: Comparable clinicopathologic features were obtained between UAC and D-BAC, which were different from those of A-BAC and O-BAC; otherwise, the latter two had similar clinicopathologic features. Univariable and multivariable Cox regression analyses indicated that PTL was an independent predictor for survival. O-BAC conferred the worst prognosis then followed by A-BAC, D-BAC, and UAC. For non-metastatic UAC or D-BAC, partial cystectomy (with an en bloc resection of the urachus and umbilicus) is optimal for survival. However, the worse survival of non-metastatic D-BAC (compared with UAC) suggested different modalities, maybe more intensive surgery approaches, should be considered for D-BAC. CONCLUSION: This study illustrates that PTL of UAC and BAC was an independent predictor for survival. A-BAC had comparable characters and prognosis with O-BAC and should not be classified into and treated as UrC. For non-metastatic disease, non-metastatic D-BAC may need more intensive modality.

Primary urachal adenocarcinoma treated effectively with surgery and post operative chemoradiation therapy: Case Report with review of the literature.

Urachal carcinomas is a rare and aggressive tumor, accounting for less than 1% of all bladder cancers. We report a case of a 32-year-old man, with no past medical history, complaining of a total hematuria. The abdominal computed tomography scan revealed an exophytic mass of 3 cm on the dome of the bladder, extending to the urachus. The computed tomography scan of chest, abdomen and pelvis did not show neither regional or distant metastasis. Partial Cystectomy with umbilectomy was performed. Histopathology was in favor of urachal adenocarcinoma, classed pT3a, based on Sheldon's staging system, pT2b based on Mayo system, and pT2 based on Ontario system.

Mucosal urinary secretion revealing adenocarcinoma of urachus.

INTRODUCTION: Urachus adenocarcinoma is an extremely rare malignant tumor characterized by its insidious evolution responsible for the delay in diagnosis. Several scientific works have tried to study the indication of adjuvant treatment, therefore the prognosis is still poor. PRESENTATION OF CASE: We report the case of a 50-year-old patient with no pathological history who consulted for an episode of intermittent urinary mucosal secretion aggravated by the appearance of macroscopic hematuria. Without other associated clinical signs. Imaging examinations revealed a mass at the expense of the upper wall of the bladder. The cystoscopy allowed us to visualize the mass and the biopsy. Histological study revealed an adenocarcinoma of urachus. The patient underwent surgical exeresis and adjuvant chemotherapy. The evolution was marked by a deterioration of the general condition despite adequate management. DISCUSSION: Due to its topography, urachus cancer usually manifests as a bladder tumor, exceptionally as much as an anterior umbilical or extraperitoneal tumor. Few studies have been done on this neoplasm; however surgery still has a primary place in therapeutic management. CONCLUSION: The scarcity of cases of urachus cancer makes the publications scarce and the lack of multicenter clinical and randomized trials explains the disagreement about adjuvant treatments.

Clinical Utility of 18F-FDG PET/CT for Staging and Treatment Planning in Urachal Adenocarcinoma.

Our objective was to evaluate the impact of 18F-FDG PET CT on the management of urachal adenocarcinoma (UrC-ADC). Methods: A retrospective analysis of patients with UrC-ADC from 2001 to 2019 at Memorial Sloan Kettering was performed. Mayo stage before 18F-FDG PET/CT, rate of detection of the primary malignancy and metastases on 18F-FDG PET/CT, Mayo stage after 18F-FDG PET/CT, and change in patient management were determined. Results: Of 21 patients with UrC-ADC before 18F-FDG PET/CT, Mayo staging was I/II in 8, III in 3, and IV in 10. 18F-FDG PET/CT detected previously unidentified metastases in 8 (38%) of 21 patients, resulting in upstaging of disease in 3 (14%) patients and a change in treatment in 4 (19%) patients. Conclusion:18F-FDG PET/CT has clinical utility in patients with UrC-ADC by identifying metastatic disease not appreciated on anatomic imaging, leading to changes in staging and patient management.

Adenocarcinoma mucinoso uracal / Urachal mucinous adenocarcinoma

Introducción: El uraco o conducto onfalomesentérico es una estructura embrionaria que conecta el intestino medio y el saco vitelino, que involuciona antes del tercer trimestre de embarazo. Objetivo: Presentar un caso con diagnóstico de adenocarcinoma uracal, neoplasia maligna rara. Desarrollo: Paciente de 50 años de edad sin antecedentes patológicos, con cuadro clínico inicial de ascitis y dolor abdominal, al examen físico masa palpable en hipocondrio-fosa iliaca izquierda que en la tomografía abdominal se observa una masa adyacente a la cúpula vesical y pared anterior del abdomen. El resultado de la biopsia reportó un adenocarcinoma mucinoso del conducto onfalomesentérico (uracal). Al momento del diagnóstico, el paciente se encontró en un estadio IVB según el sistema Sheldon y otros y un IV según sistema Mayo, etapa avanzada de la enfermedad que determina mal pronóstico. Se instauró tratamiento con quimioterapia neoadyuvante, quirúrgico y continuación con quimioterapia adyuvante, el cual continúa, actualmente, con una evolución estable. Conclusiones: Esta es una neoplasia rara. Sospechar su diagnóstico llevará a un diagnóstico temprano, lo que mejorará el pronóstico y sobrevida de los pacientes afectados(AU)

Introduction: The urachus or omphalomesenteric duct is an embryonic structure connecting the midgut and the yolk sac, which regresses before the third trimester of pregnancy. Objective: To report a case with a diagnosis of urachal adenocarcinoma, a rare malignant neoplasm. Case report: A 50-year-old patient with no pathological history, who had an initial clinical condition of ascites and abdominal pain. At physical examination, we found a palpable mass in the left hypochondrium - iliac fossa, which revealed a mass next to the bladder dome and anterior wall on the abdominal tomography of the abdomen. The biopsy result reported a mucinous adenocarcinoma of the omphalomesenteric duct (urachal). At the time of diagnosis, the patient was in stage IVB according to the Sheldon et al system and IV according to the Mayo system, an advanced stage of the disease that determines poor prognosis. Treatment with neoadjuvant and surgical chemotherapy was established and adjuvant chemotherapy to follow, which currently continues with a stable evolution. Conclusions: This is a rare neoplasm. Suspecting its diagnosis will lead to an early diagnosis, which will improve the prognosis and survival of affected patients(AU)

U-shaped relationship of age at diagnosis and cancer-specific mortality in primary urachal adenocarcinoma: a cohort study.

BACKGROUND: To examine the association between age at diagnosis and cancer-specific mortality (CSM) in primary urachal adenocarcinoma. METHODS: The data was obtained from the National Cancer Institute's Surveillance, Epidemiology, and End Results program (SEER). A total of 393 patients were included in the study. Smooth curve fitting and two-piecewise Cox proportional hazards models were used to identify the nonlinearity between the age at initial diagnosis and cancer-specific survival rate. Survival time between different groups was compared using Kaplan-Meier survival curves and the log-rank test. RESULTS: Using smooth curve fitting we found that the relationship between age at diagnosis and cancer-specific survival takes on a U-shaped curve. The inflection point that we identified for the age at initial diagnosis was 60 years. The log-likelihood ratio test (P<0.05) indicated that the two-piecewise Cox regression model was more appropriate for fitting the correlation of age at diagnosis and CSM. The two-piecewise Cox regression model showed that when the age was <60 years, reduced risk of CSM was significantly associated with increased age (HR: 0.95, P=0.0002). Conversely, when age was >60 years, increased risk of CSM was significantly associated with increased age (HR: 1.05, P=0.0499). CONCLUSIONS: In summary, our study suggested that the relationship between age at diagnosis and cancer-specific survival is nonlinear, and takes on a U-shaped curve. Both younger and older age at initial diagnosis age were associated with increased CSM.

Villous adenoma of the urachus obscuring urachal adenocarcinoma: A case report.

We report a case of a 78-year-old woman with a urachal tumor of the bladder wall. We performed a biopsy and revealed the tumor as a villous adenoma. We excised the tumor by partial cystectomy together with the umbilical ligament, because it was possible there was a co-existing malignancy. The tumor turned out to be villous adenoma and a urachal adenocarcinoma. Because the superficial section of the tumor consisted only of adenoma, a biopsy could not identify the malignant component. Villous adenoma of the urinary tract or the urachus is very rare, and it is considered as an intestinal premalignancy.