Adult Wilms Tumor Research Articles

Adult Uterine Wilm’s Tumor Miss-interpreted as Carcinosarcoma: A Case Report

Introduction: Wilm’s tumor (WT) is a common renal malignancy in children. Adult extrarenal WT involving the uterus is extremely rare. Herein, we reported a case of uterine WT in an old woman who was primarily diagnosed with carcinosarcoma. Case Presentation: A 63-year-old woman presented with abdominal pain and radiologic evidence of pelvic mass originating from the uterus, which was suggestive of sarcoma. Her Serum levels of Cancer Antigen 125 (CA125), Human Epididymis protein 4 (HE4), Cancer Antigen 19-9 (CA19-9), and Alpha Fetoprotein (AFP) were found to be elevated. She underwent total hysterectomy, bilateral salpingo-oophrectomy, and omentectomy. Pathologic examination of the specimens revealed a large uterine mass with serosal surface and omental invasion. The initial diagnosis was carcinosarcoma based on the mixed epithelial and mesenchymal components observed on microscopic examination. Triphasic components of papillary, primitive tubules, and glomeruloid structures, along with mesenchymal and blastemal elements were identified upon second opinion. An immunohistochemistry (IHC) study revealed positive reactions for WT1, CKAE1 /AE3, EMA, Glypican-3, and CD56 in all components of the tumor cells. P53 expression was normal. GATA3, ER, PR, and CD10 were negative. The final diagnosis was changed to WT. Conclusions: Uterine WT is an extremely rare malignancy, which could be associated with elevated serum AFP. Diagnosis and treatment of these rare tumors pose challenges for both pathologists and clinicians.

First incidence of extrarenal wilms tumor within the spinal canal in the adult population: a novel case report and literature review

BackgroundWilms tumor (WT), also known as nephroblastoma, is rare in adults, accounting for merely 3% of all nephroblastomas or 0.2 cases per million individuals. Extrarenal Wilms tumor (ERWT) emerges outside the renal boundaries and comprises 0.5 to 1% of all WT cases, with even rarer incidences in adults. Oncogenic mutations associated with ectopic nephrogenic rests (NR) may contribute to ERWT development. Diagnosis involves surgical resection and pathology examination. Due to scarce cases, adults often rely on pediatric guidelines. We thoroughly searched PubMed, Scopus, and Web of Science databases to establish our case’s uniqueness. To the best of our knowledge, this is the first documented incidence of extrarenal Wilms tumor within the spinal canal in the adult population.Case presentationA 22-year-old woman with a history of congenital lipo-myelomeningocele surgery as an infant presented with a 6-month history of back pain. This pain gradually resulted in limb weakness, paraparesis, and loss of bladder and bowel control. An MRI showed a 6 × 5 × 3 cm spinal canal mass at the L4-S1 level. Consequently, a laminectomy was performed at the L4-L5 level to remove the intramedullary tumor. Post-surgery histopathology and immunohistochemistry confirmed the tumor as ERWT with favorable histology without any teratomatous component.ConclusionThis report underscores the rarity of extrarenal Wilms tumor (ERWT) in adults, challenging conventional assumptions about its typical age of occurrence. It emphasizes the importance of clinical awareness regarding such uncommon cases. Moreover, the co-occurrence of spinal ERWTs and a history of spinal anomalies warrants further investigation.

Commentary: Disseminated Adult Wilms Tumour in Pregnancy- Leveraging Multidisciplinary Care in a Low Resource Setting

Adult Wilms tumor is a rare occurrence with limited examples cited in literature. It is predominantly a childhood tumor occurring between the average ages of 2 to 3 years but can occur up to age 8 years and for unknown reasons it affects more African children than Caucasians [1,2].

Clinicopathological features of adult Wilms tumor with BRAF V600E mutation

Objective: To identify BRAF V600E mutations in adult Wilms tumor (WT) with overlapping histologic features of metanephric adenoma (MA) and to investigate the clinicopathological features of adult WT. Methods: The clinical features of adult WT diagnosed at the Fudan University Shanghai Cancer Center, Shanghai, China from 2012 to 2021 were reviewed. HE-stained slides of all cases were reviewed by 2 expert pathologists. Representative tissues were selected for BRAF V600E immunohistochemical (IHC) staining and gene sequencing. Results: In adult WT with MA-like areas (cohort Ⅰ, n=6), 5 of the 6 cases were composed of epithelial-predominant and were positive for WT-1 and CD56, respectively, and all were positive for CD57. All 6 cases revealed highly variable Ki-67 indices, ranging from 1% in some areas to 60% in others. 5 of the 6 cases harbored a BRAF V600E mutation. All cases in cohort I were followed up for 23 to 71 months, and all survived. In classical adult WT without MA-like areas cohort (cohort Ⅱ, n=13), all 7 cases with available material were negative for BRAF by IHC and none of them had any BRAF mutation. Conclusions: BRAF V600E mutations are frequently present in adult WT with overlapping morphologically features of MA, but not in those without. More importantly, adult WTs with overlapping histologic features of MA may be an intermediate entity between typical MA and WT that may have a favorable prognosis and possible therapeutic targets.

Wilms Tumor: An Unexpected Diagnosis in Adult Patients.

Wilms tumor (WT) in adult patients is rare and has historically been a diagnostic and therapeutic conundrum, with limited data available in the literature. To provide detailed diagnostic features, molecular profiling, and patient outcomes in a multi-institutional cohort of adult WT patients. We identified and retrospectively examined 4 adult WT cases. Two patients presented with metastatic disease, and diagnoses were made on fine-needle aspiration of their renal masses. The aspirates included malignant primitive-appearing epithelioid cells forming tubular rosettes and necrosis, and cell blocks demonstrated triphasic histology. In the remaining 2 cases, patients presented with localized disease and received a diagnosis on resection, with both patients demonstrating an epithelial-predominant morphology. Tumor cells in all cases were patchy variable positive for PAX8 and WT1 immunohistochemistry. Next-generation sequencing identified alterations previously reported in pediatric WT in 3 of 4 cases, including mutations in ASXL1 (2 of 4), WT1 (1 of 4), and the TERT promoter (1 of 4), as well as 1q gains (1 of 4); 1 case showed no alterations. Three patients were treated with pediatric chemotherapy protocols; during follow-up (range, 26-60 months), 1 patient died of disease. WT is an unexpected and difficult entity to diagnose in adults and should be considered when faced with a primitive-appearing renal or metastatic tumor. Molecular testing may help exclude other possibilities but may not be sensitive or specific because of the relatively large number of driver mutations reported in WT.

Recent Improvements in Adult Wilms Tumor Diagnosis and Management: Review of Literature.

Wilms tumor, also denoted as nephroblastoma, an embryonal type of renal cancer, is the most common cancer that affects children in the first 5 years of life. Wilms tumor is very rarely seen in adults. Both adults and children showcase varied clinical symptoms. The metastasis of tumor in both adults and children are not uncommon. Though histological differences between children and adults are insignificant, the prognosis of adult Wilms tumors compared to children is abysmal. Despite remarkable advancements in oncology, no standard treatment protocol exists for Wilms tumor in adults. Children Wilms tumor treatment protocol is currently followed for adults with some changes. In this article, we reviewed the available treatment options for Wilms tumor in adults and protocols followed widely.

Percutaneous Biopsy in Adult Wilms Tumor and A Review of the Literature

Percutaneous Biopsy in Adult Wilms Tumor and A Review of the Literature

Adult Wilms Tumor: Genetic Evidence of Origin of a Subset of Cases From Metanephric Adenoma.

The genetics of nephroblastoma (Wilms tumor) occurring in adults is largely unknown, as studies have largely been limited to isolated case reports. We, therefore, studied 14 adult Wilms tumors for genetic alterations, using expanded targeted sequencing on 11 cases. The patients ranged from 17 to 46 years of age (mean and median, 31 y), and there were 8 males and 6 females. Five Wilms tumors harbored BRAF V600E mutations. All of these had better-differentiated areas identical to metanephric adenoma, as has previously been described. In 3 such cases, microdissection studies revealed that the BRAF V600E mutation was present in both the metanephric adenoma and Wilms tumor areas; however, additional genetic alterations (including TERT promoter mutations in 2 cases, ASLX1/ATR mutations in 1 other case) were limited to the Wilms tumor component. These findings suggest that the Wilms tumor developed from the metanephric adenoma. Other adult Wilms tumors harbored genetic alterations previously reported in the more common pediatric Wilms tumors, including WT1 mutations (2 cases), ASLX1 mutations (3 additional cases), NSD2 mutation (1 additional case), and 11p loss (3 cases). In summary, a significant subset of adult Wilms tumors (specifically those of epithelial type with differentiated areas) harbor targetable BRAF V600E mutations and appear to arise from metanephric adenomas as a consequence of additional acquired genetic alterations. Other adult Wilms tumors often harbor genetic alterations found in their more common pediatric counterparts, suggesting at least some similarities in their pathogenesis.

Inferior vena cava thrombus shrinkage in patient with adult Wilms' tumor: A Case report.

Introduction and importanceAdult Wilms' tumor is infrequent in adults and usually has poor prognosis. We report a case of inferior vena cava thrombus shrinkage in patient with adult Wilms' tumor.Case presentationA 27-year-old male came to hospital due to pain in his left flank and repeated hematuria since one year ago. An inhomogeneous mass and thrombus in IVC and abdominal aorta near renal artery were found from his abdominal CT scan with contrast, so cytoreductive nephrectomy was performed. However, the patient was unstable during operation so the thrombus couldn't be operated. Post-op immuno-histo-chemistry evaluation conethicfirmed the diagnosis of adult Wilms Tumor. A follow-up CT scan with contrast showed shrinkage of thrombus size with no sign of peripheral congestion. This phenomenon was rare in adult Wilms tumors, especially when the patient didn't undergo thrombus removal or adjuvant chemotherapy.Clinical discussionAdult Wilms' tumor tends to invade blood vessels in the form of thrombus, as shown in this case. Up to 4% of patients with thrombus had it around vena cava [3,4]. The recommended treatment is open surgery. Patients with chronic thrombus obstruction might have several venous collateral pathways to maintain blood flow to the right atrium. Generally, there are three major alternative pathways found in such complications.ConclusionThis study presented a patient with adult Wilms' tumor that experienced post-operative thrombus shrinkage without doing adjuvant chemotherapy or thrombus removal during surgery.

A rare case of adult Wilms tumor: case report and literature review from a tertiary centre

Nephroblastoma (Wilms’ tumour) in adult population is extremely rarefied scenario and has a poorer prognosis than paediatric Wilms’ tumour with an incidence of about 0.2 per million per year in the USA and Europe. Clinical presentation is also distinct between children and adults. In adults, manifestation is usually hematuria and abdominal pain while paediatric cases frequently present with an asymptomatic abdominal lump. It is arduous to demarcate adult Wilms’ tumour from renal cell carcinoma based on radiology alone. The final diagnosis in adult cases is often fortuitous following radical nephrectomy for presumed adult Renal cell carcinoma (RCC). Due to the lack of published discussion, there are no standard protocols for the management of adult Wilms tumour (WT) hence it is managed as per paediatric WT. In view of this, we report a case of adult WT in a 32-years-old female, who was diagnosed propitiously following right radical nephrectomy for an assumed right renal mass.

Wilms' Tumor in Adults-Conventional and Unconventional Presentations of a Rare Entity with a Review of Literature.

Wilms’ tumor (WT) in adults is a rare neoplasm. Only a few reports are available in the literature. The tumor often masquerades as renal cell carcinoma (RCC). For accurate reporting, histopathological examination (HPE) plays a vital role in early diagnosis and prompt administration of multimodality treatment helps to improve the prognosis.We comprehensively analyzed five cases of adult WT presenting in the third to fifth decade with flank pain, hematuria, fever, and palpable lump. After complete clinical, biochemical, radiological, and HPE evaluation, tumor was staged and treatment was planned accordingly.Patients with low-stage WT were treated with open radical nephrectomy and chemotherapy. One of the patients diagnosed with inferior vena cava (IVC) thrombus apart from the above treatment also underwent IVC thrombectomy. Another young male presenting with distant metastasis (stage IV) and focal anaplasia on histology received preoperative chemotherapy and then planned for surgery. Unfortunately, the tumor being unresectable, second-line chemotherapy was given but he ultimately succumbed to death. All other patients are on regular follow-up and disease-free.Adult nephroblastoma is a rare clinical entity with hostile behavior. The presence of IVC thrombus is not a contraindication to surgery. Although the management strategy as per pediatric protocol by the inclusion of multimodality approach improves survival, still the overall prognosis in adults is dismal. There is a need for a standardized treatment protocol to encourage a homogenous approach for this rare disease and thereby improve survival.

Adult Wilms Tumour Cases Masquerading as Renal Cell Carcinoma

Adult Wilms Tumour Cases Masquerading as Renal Cell Carcinoma

A Case of an Adult Wilms Tumour in a Patient With Velocardiofacial Syndrome

Adult Wilms tumors (nephroblastomas) are exceedingly rare with less than 500 cases reported in the literature. To our knowledge, ours is the first reported case of a patient with velocardiofacial syndrome (Shprintzen syndrome) acquiring an adult Wilms tumor. The case highlights the possible role of chromosome 22q aberrations toward the pathogenesis of a subset of Wilms tumors.

Metanephric Adenoma-Epithelial Wilms Tumor Overlap Lesions: An Analysis of BRAF Status.

Metanephric adenoma (MA) has historically been considered to represent a differentiated form of epithelial Wilms tumor (WT), based in part upon cases that morphologically overlap these 2 neoplasms. More recently, BRAF V600E mutations have been demonstrated in the majority of MAs but not in unselected or even epithelial-predominant WTs, suggesting 2 genetically distinct entities. However, no prior study has examined BRAF status in neoplasms with overlapping histologic features of epithelial WT and MA. We studied a cohort of 11 such overlapping lesions, 2 of which we considered morphologically to be otherwise typical MAs with unusually prominent mitotic activity and 9 of which we classified as epithelial WTs with areas resembling MA. Both mitotically active MAs demonstrated the BRAF V600E mutation. While the majority (5/9) of epithelial WTs with areas resembling MA were negative for BRAF V600E mutation, 4 such cases were positive. Two BRAF V600E mutation-positive WTs occurred in children. One case in a 6-year-old male was morphologically similar to the BRAF V600E mutation-positive adult cases and subsequently metastasized to the lungs; remarkably, the metastases then completely resolved on Braf targeted therapy. A second occurred in a 3-year-old girl whose posttherapy nephrectomy specimen's tumor was encapsulated and mitotically active like a typical WT, but also had more differentiated areas resembling MA. Immunohistochemistry for Braf V600E paralleled the molecular findings, demonstrating immunoreactivity in both the WT and MA-like areas of all 4 of these neoplasms. In summary, we demonstrate that BRAF V600E mutations are not entirely restricted to typical MA, as they may be seen in MAs showing mitotic activity along with a subset of epithelial-predominant WTs in adults and children that have foci which overlap morphologically with MA.

Wilms tumor of a horseshoe kidney in an 18 year old with an unusual metastasis

Abstract Wilms tumor is the most common malignant renal tumor in the pediatric population. Children usually present with an abdominal swelling and are frequently diagnosed at Stage I or Stage II disease. The most common sites of metastasis are the lungs. The presence of metastatic disease and age at diagnosis has an important impact on prognosis. Less is known about Wilms tumor in adults, but the treatment is the same as it is for pediatric patients. Here, we present an 18-year-old male with a horseshoe kidney diagnosed with Wilms tumor and metastasis to the rectum.

Adult Wilms Tumor During Pregnancy: Case Report and Literature Review

Adult Wilms tumor (WT) is a well-known, albeit rare entity and has historically been associated with worse overall clinical outcomes when compared to younger patients. Because WT is uncommon in adult patients, it is often misdiagnosed and treated off standardized pediatric protocols. WT associated with pregnancy is even more rare, and there is not a standardized approach to this small subset of patients. We present a case of an adult WT discovered and managed during the perinatal period and review prior published cases.

Adult Wilms tumor with inferior vena cava thrombus and distal deep vein thrombosis \u2013 a case report and literature review

BackgroundAdult Wilms tumor (WT, nephroblastoma) is a rare, but well-described renal neoplasm. Although inferior vena cava tumor thrombosis is present in up to 10% of Wilms tumors in childhood, only few cases of this clinical manifestation in adults have been reported. To the best of our knowledge, this is the first case of adult WT infiltrating into inferior vena cava (IVC) with concomitant distal deep vein thrombosis.Case presentationA 28-year-old male patient with gross hematuria and right flank pain was diagnosed with right kidney tumor penetrating to IVC. Preoperatively, acute distal thrombosis in inferior vena cava and lower extremities veins occurred. Right radical nephrectomy with tumor thrombectomy via cavotomy was performed. In order to prevent pulmonary embolism, IVC was ligated below left renal vein level. Histopathological examination revealed a triphasic nephroblastoma without anaplastic features. Postoperatively, patient was diagnosed with metastatic liver disease, which was treated with two lines of chemotherapy followed by radiotherapy with achievement of complete response.ConclusionsAdult WT occurs usually in young patients, under 40 years of age. Neoadjuvant chemotherapy proved to be effective in children, resulting with tumor shrinkage and venous tumor thrombus regression. Therefore, percutaneous biopsy should be always considered in young patients presenting with renal tumor invading venous system. IVC ligation is a safe treatment option in the event of complete inferior vena cava occlusion due to distal thrombosis concomitant to tumor thrombus, provided collateral venous pathways are well-developed.

WILMS TUMOR IN ADULTS: CASE REPORT AND REVIEW OF THE LITERATURE

Wilms Tumor (WT) is an extremely rare neoplasia in adults. It represents 95% and 1% of all renal tumors, in adults and children respectively. Clinical symptoms are also distinct between adults and children. In adults, symptoms are usually abdominal pain and hematuria, on the other hand, pediatric patients frequently present with an asymptomatic abdominal mass. The recommended treatment for WT in adults follows protocols established for pediatric patients. Currently, the 5-year overall survival rate for adults with WT is of approximately 90%. The adoption of multimodal therapy systematized, and proposed by current protocols, allowed the results to become much more robust, with a significant improvement from less than 30% to 90%. However, recent reviews suggest a worse outcome for adults when compared to children, even when submitted to the same treatment regimen, and comparable according to histology and tumor stage.We present a case of a 26 years-old male patient, who underwent surgery to treat a solid renal mass. Pathological report demonstrated a Wilms tumor. The patiente also received adjuvant chemotherapy with dactinomycin and vincristine. After 12 months follow-up, patient has no evidence of disease.

Adult Wilms Tumour: Rare case report with an exceptional survival in metastatic disease

Adult Wilms Tumour: Rare case report with an exceptional survival in metastatic disease

Monophasic Wilms tumor with multiple skeletal metastases in a young female: A case report and review of literature

Wilms tumor (nephroblastoma) is the most common renal tumor in children. It is uncommon in adolescent and skeletal metastasis at the time of presentation is even rare. The present case is a rare monophasic blastemal variant of Wilms tumor presenting with multiple skeletal metastases in a young female. We report a case of 23-year-old female presented with severe low backache and colicky right loin pain of 1 month and constant dull aching left upper arm pain of 20 days duration. Contrast-enhanced computed tomography (CECT) abdomen revealed heterogeneously enhancing soft tissue density mass with central nonenhancing areas arising from the upper pole of the right kidney. Whole body 18F-Sodium Fluoride (NaF) Positron emission tomography computed tomography (PET/CT) bone scintigraphy revealed multiple skeletal metastases. The patient underwent right radical nephrectomy and the tumor was confirmed as adult Wilms tumor by histopathology and immunohistochemistry. Skeletal metastasis may be the first presentation in a case of adolescent Wilms tumor, and this possibility should be considered when an adolescent patient presents with flank pain and a renal mass. The clinical course of adult Wilms tumor with blastemal component is very aggressive with high chances of recurrence and mortality.