Pediatric urothelial carcinoma: A rare case of secondary genitorurinary malignancy in a Wilms Tumor patient.
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ABSTRACT:
SUBMITTER: Hertz AM
PROVIDER: S-EPMC5694963 | biostudies-literature | 2018 Jan
REPOSITORIES: biostudies-literature
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Pediatric urothelial carcinoma: A rare case of secondary genitorurinary malignancy in a Wilms Tumor patient.
Hertz Alexandria M AM Salomon Andrew N AN Forouhar Melissa A MA Cuda Scott P SP
Urology case reports 20171028
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Project description:BackgroundWilms tumor is the most common renal tumor of childhood. Duplication of the inferior vena cava is an uncommon anomaly. In the present study, we present a case of Wilms tumor with the inferior vena cava duplication, which has not been reported previously.Case presentationA 14-month-old female presented with an enlarging abdominal mass. Computed tomography imaging demonstrated a large mass in the right kidney, duplication of the inferior vena cava below the renal veins and compression of the right inferior vena cava caused by the enormous mass. A right radical nephrectomy was performed. Final pathology was consistent with Wilms tumor. Postoperative adjuvant chemotherapy was executed. Computed tomography imaging at 3 months postoperatively showed the right inferior vena cava played a dominant role and the left inferior vena cava was not detected clearly. During the follow-up of 18 months, no local recurrence or metastasis has been observed.ConclusionIt is important to recognize the case of Wilms tumor with the inferior vena cava duplication to avoid injury of retroperitoneal venous anomalies and life-threatening hemorrhage during surgery through preoperative computed tomography.
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Project description:Ribosome-binding protein 1 (RRBP1) is a potential oncogene in several cancer types. However, the correlation between RRBP1 expression and the prognosis of patients with upper tract urothelial carcinoma (UTUC) remains unclear. In this study, we identified that RRBP1 is associated with carcinogenesis and metastasis in UTUC using a methylation profiling microarray. High correlations between RRBP1 and cancer stages, nodal metastasis status, molecular subtypes, and prognosis in bladder urothelial cancer (BLCA) were found. Aberrant DNA methylation in the gene body region of RRBP1 was determined in UTUC tissues by methylation-specific PCR. RRBP1 expression was significantly increased in UTUC tissues and cell lines, as determined by real-time PCR and immunohistochemistry. RRBP1 depletion significantly reduced BFTC909 cell growth induced by specific shRNA. On the other hand, molecular subtype analysis showed that the expression of RRBP1 was associated with genes related to cell proliferation, epithelial-mesenchymal transition, and basal markers. A patient-derived organoid model was established to analyze patients' responses to different drugs. The expression of RRBP1 was related to chemoresistance. Taken together, these results provide the first evidence that RRBP1 gene body hypomethylation predicts RRBP1 high expression in UTUC. The data highlight the importance of RRBP1 in UTUC malignancy and chemotherapeutic tolerance.
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Project description:Dermatofibrosarcoma protuberans (DFSP) is a rare malignant fibroblastic tumor. DFSP has an insidious onset, slow growth, and heterogeneous presentation that can create a delay in diagnosis and increase morbidity. In this case report, we present a child with DFSP that presented as a large, slow-growing mass over the dorsum of the left foot. She underwent successful surgical excision with no functional sequelae.
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Project description:Upper tract urothelial carcinoma (UTUC) is a rare malignancy, occurring in 5-10% of patients diagnosed with UC, and involves the renal pelvis, calyces, or ureters. UTUC can be sporadic or hereditary as a clinical manifestation of Lynch syndrome. Therapeutic management of these patients is challenging. Following risk stratification of localized disease, patients with low-grade UTUC may undergo kidney-sparing surgery or radical nephroureterectomy (RNU) and/or chemoablation with mitomycin-c instillation to reduce recurrence. In high-grade disease, RNU followed by adjuvant chemotherapy remains the standard of care. For decades, platinum-based chemotherapy has been the cornerstone of treatment for locally advanced and metastatic disease. The aim of the present review is to summarize recent advances in UTUC's therapeutic management through the lens of its genomic and immune landscape. Accumulating knowledge on the genetic and immune aspects of UTUC tumors has increased our understanding of their underlying biology, supporting a luminal papillary, T-cell depleted contexture and enrichment in fibroblast growth factor receptor (FGFR) expression. These advances have fueled successful clinical testing of several precision-based therapeutic approaches, including immune checkpoint inhibitors (ICIs), the antibody-drug conjugates (ADCs) enfortumab vedotin and sacituzumab govitecan, and agents targeting the FGFR axis such as erdafitinib and other kinase inhibitors, allowing their entry into the therapeutic armamentarium and improving the prognosis of these patients. Not all patients respond to these precision-based targeted therapies; thus, validating and expanding the toolkit of potential biomarkers of response or resistance, including molecular subtypes, FGFR pathway gene alterations, DNA repair gene defects, tumor mutational burden (TMB), circulating tumor DNA (ctDNA), nectin-4, TROP2, and programmed death ligand-1 (PD-L1), are key to maximizing the benefit to these particular subgroups of patients.
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Project description:Background Hepatocellular carcinoma with neuroendocrine differentiation (HCC-NED) is a very rare subtype of primary liver cancer. Treatment allocation in these patients therefore remains a challenge. Methods We report the case of a 74-year-old man with a HCC-NED. The tumor was surgically removed in curative intent. Histopathological work-up revealed poorly differentiated hepatocellular carcinoma (Edmondson-Steiner grade IV) with diffuse expression of neuroendocrine markers synaptophysin and chromogranin. Three months after resection, multifocal recurrence of the HCC-NED was observed. In the meantime, tumor organoids have been generated from the resected HCC-NED and extensively characterized. Sensitivity to a number of drugs approved for the treatment of HCC or neuroendocrine carcinomas was tested in vitro. Results Based on the results of the in vitro drug screening, etoposide and carboplatin are used as first line palliative combination treatment. With genomic analysis revealing a NTRK1-mutation of unknown significance (kinase domain) and tumor organoids found to be sensitive to entrectinib, a pan-TRK inhibitor, the patient was treated with entrectinib as second line therapy. After only two weeks, treatment is discontinued due to deterioration of the patient’s general condition. Conclusion The rapid establishment of patient-derived tumor organoids allows in vitro drug testing and thereby personalized treatment choices, however clinical translation remains a challenge. To the best of our knowledge, this report provides a first proof-of-principle for using organoids for personalized medicine in this rare subtype of primary liver cancer. Plain language summary Tumors that simultaneously display features of liver, nerve and hormone-producing cells are very rare. In such cases, the most appropriate treatment choice is not well defined. Here, we describe the generation of three-dimensional miniature tumors, called organoids, from the patient’s tumor tissue, that can be grown and studied in a culture dish. These organoids closely mimic the patient’s tumor and allowed us to test different drugs to identify the most effective therapy for informed treatment choice. What we describe in this study is an emerging approach for a practice known as personalized medicine, that aims to provide a more tailored treatment to patients. In summary, we demonstrate that this approach can be useful in a rare cancer type and that it holds significant potential to guide treatment decision in other patients with aggressive cancers. Meier, Nuciforo, Coto-Llerena et al. report a rare case of a patient with hepatocellular carcinoma with neuroendocrine differentiation. The authors establish organoids that recapitulate the genetic features of the patient’s tumor and are used for ex vivo drug testing to guide therapy selection in the patient.
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Project description:The survival of childhood Wilms tumor is currently around 90%, with many survivors reaching reproductive age. Chemotherapy and radiotherapy are established risk factors for gonadal damage and are used in both COG and SIOP Wilms tumor treatment protocols. The risk of infertility in Wilms tumor patients is low but increases with intensification of treatment including the use of alkylating agents, whole abdominal radiation or radiotherapy to the pelvis. Both COG and SIOP protocols aim to limit the use of gonadotoxic treatment, but unfortunately this cannot be avoided in all patients. Infertility is considered one of the most important late effects of childhood cancer treatment by patients and their families. Thus, timely discussion of gonadal damage risk and fertility preservation options is important. Additionally, irrespective of the choice for preservation, consultation with a fertility preservation (FP) team is associated with decreased patient and family regret and better quality of life. Current guidelines recommend early discussion of the impact of therapy on potential fertility. Since most patients with Wilms tumors are prepubertal, potential FP methods for this group are still considered experimental. There are no proven methods for FP for prepubertal males (testicular biopsy for cryopreservation is experimental), and there is just a single option for prepubertal females (ovarian tissue cryopreservation), posing both technical and ethical challenges. Identification of genetic markers of susceptibility to gonadotoxic therapy may help to stratify patient risk of gonadal damage and identify patients most likely to benefit from FP methods.
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Project description:Infiltrating urothelial carcinoma sarcomatoid variant is a rare variant of urothelial carcinoma. We report a case of a 68-year-old female with a history of hematuria. CT scan with contrast showed a mass in the 1/3 distal of the right ureter. The biopsy result showed a high-grade infiltrating urothelial carcinoma. A radical nephroureterectomy was performed but at the follow-up after 3 months, there was a recurrent mass and gemcitabine-cisplatin chemotherapy was given. Since a high-grade infiltrating urothelial carcinoma sarcomatoid variant was an aggressive tumor, we need to give more attention to evaluating this tumor.
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Project description: Not available
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Project description:IntroductionAcute liver failure (ALF) secondary to malignant infiltration of the liver from urothelial carcinoma is a very rare clinical condition and is often diagnosed only after death. Upper tract urothelial carcinoma (UTUC) is a rare, from 5% to 10% of all urothelial tumours, but possible cause of ALF when there is extensive liver metastatic involvement. We report the case of a patient who died in the intensive care unit (ICU) of our hospital from multiple organ failure (MOF) secondary to ALF, as a result of infiltration of the liver from UTUC diagnosed after surgery.PRESENTATION OF THE CASE: A 69-year-old Caucasian man was referred to our hospital for hematuria, melena, right upper quadrant (RUQ) pain and jaundice developed over the previous two weeks. After multidisciplinary discussion, he underwent emergency exploratory laparotomy to perform cholecystectomy because of suspected acute cholecystitis considered as a septic focus within the left kidney. He developed MOF and died on the 6th postoperative day.DiscussionFrom the diagnosis of the renal mass and the death of the patient, a few days have passed, and the diagnosis of UTUC has been put only at histological examination.The most common sites of metastases from UTUC are lymph nodes, lungs, liver, bones and peritoneum. Moreover, liver metastases have been identified to have an independent negative impact on overall survival in a patient affected by UTUC.ConclusionThe authors suggest that this condition should be taken into account when dealing with patients with evidence of a renal mass and simultaneous ALF.
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