Adult Wilms’ tumor: A case report and review of literature

We report the case of a 43-year-old woman with adult Wilms’ tumor. Imaging studies confirmed the presence of a 25 × 20 × 12 cm mass in the left kidney. A radical transabdominal nephrectomy was performed. Histological diagnosis was adult Wilms’ tumor. Postoperative chemotherapy was offered to the patient who remains disease-free 67 months postoperatively. There are a few reported cases of this entity and till today the best treatment options and the prognosis remain unclear.     

Wilms tumor—a renal stem cell malignancy?

Wilms’ tumor (WT; nephroblastoma) is the most common pediatric renal malignancy and rated fourth in overall incidence among childhood cancers. It is viewed as a prototype of differentiation failure in human neoplasia as it recapitulates the histology of the nephrogenic zone of the growing fetal kidney. The cellular origin of WT is unclear. However, recent genomic, genetic and epigenetic studies point to an early renal stem/progenitor cell that undergoes malignant transformation as the source for WT. In this context, classical WT shares genes and pathways activated in progenitors committed to the renal lineage. However, direct proof and characterization of the WT initiating cell have remained elusive. Novel methodologies recently adopted from the cancer stem cell scientific field, including the analysis of sorted single human tumor cells, have been applied to WT. These have enabled the identification of cell sub-populations that show similarities—in terms of molecular marker expression—to human fetal kidney progenitors and are, therefore, likely to be derivatives of the same lineage. Further elucidation of the WT cancer stem cell or the cell of origin in human tumors and in transgenic mouse models that generate murine tumors may not only provide novel therapeutic targets but also shed light on the normal kidney stem cell.     

Current Management of Wilms’ Tumor

Wilms’ tumor is the most common malignant renal tumor in children. Survival has improved dramatically over time as a result of prospective randomized clinical trials conducted by the pediatric cooperative cancer groups. Current research is directed toward identifying low-risk patients for whom a reduction in treatment intensity would decrease long-term morbidity. This article reviews the most recent advances in the biology and treatment of children with Wilms’ tumor.     

Urinary endothelin-1-like immunoreactivity excretion in Wilms’ tumor survivors

Background

We evaluated urinary endothelin (ET)-1-like Immunoreactivity (uET-1?L) excretion in Wilms tumor (WT) survivors and investigated its relationships with glomerular filtration rate (GFR) and effective renal plasma flow (ERPF). Glomerular hemodynamics were also assessed by Gomez formulae.

Methods

Seventeen WT survivors underwent renal sequential scintigraphy for residual kidney function determination including ERPF and GFR. Forty-five healthy individuals were selected as the control group. uET-1?L was measured by radioimmunoassay from the 24-h urine collection.

Results

In WT survivors, uET-1?L excretion was significantly higher than in controls. Significant correlations were found between uET-1?L and ERPF and GFR. Cluster analysis, applied on uET-1?L, identified two different patient groups. Between them, GFR and ERPF were significantly different. No significant difference existed between the two clusters for age and sex, elapsed time from nephrectomy, treatment, or nephrectomy side. Applying Gomez formulae, significant difference was found for afferent and total renal resistance.

Conclusions

According to our results, uET-1?L seems to be a marker of glomerular injury in patients with renal mass loss revealing renal overload condition. The uET-1?L role in renal damage progression and hemodynamic glomerular worsening in nephrectomized patients should be proven by prospective long-term follow-up studies, even for potential ET-1 receptor antagonist therapeutic use.     

Targeted therapy aimed at cancer stem cells: Wilms’ tumor as an example

Wilms’ tumor (WT), a common renal pediatric solid tumor, serves as a model for a malignancy formed by renal precursor cells that have failed to differentiate properly. Here we review recent evidence showing that the tumors’ heterogeneous cell population contains a small fraction of cancer stem cells (CSC) identified by two markers: Neural Cell Adhesion Molecule 1 (NCAM1) expression and Aldehyde dehydrogenase 1 (ALDH1) enzymatic activity. In vivo studies show these CSCs to both self-renew and differentiate to give rise to all tumor components. Similar to other malignancies, the identification of a specific CSC fraction has allowed the examination of a novel targeted therapy, aimed at eradicating the CSC population. The loss of CSCs abolishes the tumor’s ability to sustain and propagate, hence, causing tumor degradation with minimal damage to normal tissue.     

Infiltrating giant cell tumor in a case of Paget’s disease of bone

Giant cell tumor (GCT) of the bone, also called osteoclastoma, is a rare complication of Paget’s bone disease. We report a patient from Southern Italy who developed a GCT infiltrating the neighboring tissues. The natural history and the therapeutic outcomes of this unique complication of Paget’s bone disease are presented.     

A novel Wilms’ tumor 1 gene mutation in a child with severe renal dysfunction and persistent renal blastema

The Wilms' tumor suppressor gene WT1 is an important regulator of development. Mutations in this gene have been associated with Wilms' tumor, Frasier syndrome, and Denys-Drash syndrome, as well as isolated glomerular disease. Here we report the case of a 4-month-old girl, who presented with end-stage renal disease, thrombopenia, anemia, and cardiac hypertrophy accompanied by severe hypertension. Histological analysis of kidney biopsies revealed a massive and diffuse nephroblastomatosis with a dramatic reduction in the number of glomeruli. Although no normal cortical nephrons could be detected, medullary organization was nearly normal. Sequence analysis demonstrated a heterozygous nonsense mutation in exon 9 of WT1, which leads to a truncation of the WT1 protein at the beginning of zinc finger 3. Given the requirement of WT1 for normal development of the kidney and heart, these data raise the hypothesis that the mutation identified was responsible for the severe phenotype observed in our patient.     

An unusual tumor of rib diaphysis—report of a giant cell tumor and a brief review of literature

Giant Cell Tumor of bone (GCT) is a benign but aggressive tumor, which forms about 4?C5% of primary bone tumors and 1?C2% of all chest wall tumors. It arises in the epiphysis of bones. The epiphysis of a rib is in its head and tubercle posteriorly and hence a GCT arising in a rib??s anterior aspect, its diaphysis, is rare. In this unusual position, it can be mistaken for other more common diaphyseal pathologies. Radiological images are often diagnostic. A needle biopsy is best avoided and a wide excision biopsy is the treatment of choice. Microscopically, multinucleated giant cells are seen amidst stromal cells. Giant cells like these are also seen in other diseases like the brown tumor of primary hyperparathyroidism. Giant cell lesions are never caused by secondary hyperparathyroidism. We present a case of a diaphyseal GCT of rib in a patient with secondary hyperparathyroidism who was successfully treated.     

Bilateral Wilms’ tumour: An international comparison of treatments and outcomes

Introduction:Wilms’ tumour is the most common childhood renal malignancy, with 5–10% of cases presenting bilaterally ¹. However, there is currently no consensus between centres on optimal management of bilateral Wilms’ tumours. This is an international multi-centre case series comparing management and outcomes of bilateral Wilms’ tumours between low-income centres (LIC) and high-income centres (HIC).Methods:Patients with bilateral Wilms' tumour were identified from four tertiary referral centres internationally. Data were collected on baseline characteristics, disease status, treatment used and clinical outcomes. Results were compared between individual centres as well as between groups of low-income centres (LIC) and high-income centres (HIC).Results:Data were collected for forty patients. Most patients received preoperative chemotherapy (n = 38, 95%). The most common surgical procedures were bilateral nephron-sparing surgery (n = 10, 25%) and nephrectomy with partial nephrectomy (n = 20, 50%). Ten-year survival after treatment was as follows: LIC's n = 13 (65%); HIC's n = 20 (100%) (p = 0.01).Discussion:Ten-year survival was significantly higher in HIC's. Our results show this may be caused by patient factors such as later presentation with more advanced disease in low-income centres. This comparative case series is the first to report on a large number of cases from multiple international centres, and to compare key outcomes.     

Adult Wilms’ Tumor: Management Considerations

Adult Wilms’ tumor are rare tumors. Recommended treatment guidelines are similar to those followed for Wilms’ tumor of childhood. Presented herein is a case of an Adult Wlims’ tumor stage II favorable histology which failed to respond to the first line combination chemotherapy schedule of Cyclophosphomide, vincristine, and Actinomycin D. In view of similar such reports in the literature a more aggressive chemotherapy schedule of Cisplatin and Etoposide based combination may be recommended as the first line of treatment for Early stage Adult Wilms’ tumor.     

Reconstruction of an abdominal wall defect with biologic mesh after resection of a desmoid tumor in a patient with a Gardner’s syndrome

Introduction: Desmoid tumors are rare proliferative and invasive benign lesions. They can be sporadic, but in most instances, desmoid tumors develop in the context of Gardner’s syndrome with principal localization in the abdominal cavity and abdominal wall.

Case-report: We report the case of a 24-year-old female presenting Gardner’s syndrome with a symptomatic abdominal wall desmoid tumor. Lack of response to medical treatment led to surgical management consisting in a complete resection and parietal reconstruction with a biologic mesh. Postoperative course was uneventful and there was no evidence of recurrence at 12 months of follow-up.

Discussion: Conventional treatment of abdominal wall desmoid tumors consists in a wide and radical resection. However, complete resection is not always feasible because of difficulty to differentiate the desmoid tumor from adjacent tissues. The surgical approach may require different techniques to repair the parietal defect including prosthetic material such as synthetic or biologic meshes. Biological mesh is an ideal alternative to synthetic graft, mainly in case of infection.

Conclusion: We have encountered a case of a symptomatic growing desmoid tumor of the abdominal wall in a young patient with Gardner’s syndrome, successfully treated by complete resection and reconstruction with a biologic mesh to correct the parietal defect.     

Angiomyoma of the hand: a post-traumatic tumor?

A 69-year-old woman presented with a tumor of the lateral aspect of the proximal phalanx of the little finger of the right hand. The finger was injured by a ring during a handshake. Excision and histopathological examination revealed the diagnosis of angio-myoma, a benign vascular tumor originating from the smooth muscle cells of arterial or venous walls. Angiomyomas belong to the family of leiomyomas and rare, small tumors (less than one centimeter), preferentially occurring in women between the ages of 40 and 60 years. They may be painful. Only one case of sarcomatous degeneration has been described in the literature. Trauma has never been previously reported as a cause of angio-myoma, but in this case the traumatic origin of the tumor was not in doubt.     

Transjugular extension of meningioma into the mediastinum—a case report

A case of a tentorial meningioma with atypical histological features invading the transverse sinus and extending along the internal jugular vein up to the superior mediastinum is described. This report illustrates one of the many ways meningiomas spread beyond the cranial cavity and the difficulty in managing such a problem.     

Fine Mapping of Wilms’ Tumors With 16q Loss of Heterozygosity Localizes the Putative Tumor Suppressor Gene to a Region of 6.7 Megabases

Background:The aim of this study was to more precisely map the region of 16q loss of heterozygosity (LOH) in Wilms tumors and to examine the expression of putative tumor suppressor.Methods:We performed polymerase chain reaction–based LOH analysis on the 185 sample pairs from 21 to 80 megabases (Mb) on chromosome 16q. Expression of two candidate tumor suppressor genes located within the identified consensus region of 16q LOH was examined by immunohistochemistry.Results:We identified 16q LOH in 7 (4%) of 185 Wilms tumors not previously thought to demonstrate such genetic loss. The smallest common region of genetic loss was located between 67.3 and 74.0 Mb on chromosome 16. Within this 6.7-Mb region, there reside only three recognized tumor suppressor genes: E-cadherin, P-cadherin, and E2F4. E-cadherin demonstrates statistically significantly reduced expression in Wilms tumors with 16q LOH.Conclusions:We have localized the consensus region of 16q LOH in Wilms tumor to a 6.7-Mb locus and have identified three candidate Wilms tumor suppressor genes within this narrowed region. Our data support E-cadherin as a candidate tumor suppressor gene in Wilms tumor; however, further studies are needed to definitively prove its role as the tumor suppressor gene associated with 16q LOH.     

Popliteal glomangioma mimicking baker’s cyst in a 9-year-old child: an unusual location of a glomus tumor

Popliteal cysts (Baker’s cyst) are very common conditions in children. However, in the differential diagnosis of popliteal cysts in childhood, glomus tumor is the most infrequent diagnosis. This is a relatively uncommon soft tissue tumor that can occur at any age and any anatomic site, with a predilection for the subungual region. In the reported series, extradigital glomangiomas involving the knee are located in the patellar ligament, quadriceps tendon, patellar fat pad, and popliteal fossa. In this study, I present a second case of glomus tumor located in the popliteal fossa and misdiagnosed as a Baker’s cyst. I also review the “around-the-knee glomus tumors” that have been discussed in the literature to date.     

Two-step tunneling technique of deep brain stimulation extension wires—a description

Introduction

While a significant body of literature exists on the intracranial part of deep brain stimulation surgery, the equally important second part of the intervention related to the subcutaneous tunneling of deep brain stimulation extension wires is rarely described. The tunneling strategy can consist of a single passage of the extension wires from the frontal incision site to the subclavicular area, or of a two-step approach that adds a retro-auricular counter-incision. Each technique harbors the risk of intraoperative and postoperative complications.

Method

At our center, we perform a two-step tunneling procedure that we developed based on a cadaveric study.

Results

In 125 consecutive patients operated since 2002, we did not encounter any complication related to our tunneling method.

Conclusion

Insufficient data exist to fully evaluate the advantages and disadvantages of each tunneling technique. It is of critical importance that authors detail their tunneling modus operandi and report the presence or absence of complications. This gathered data pool may help to formulate a definitive conclusions on the safest method for subcutaneous tunneling of extension wires in deep brain stimulation.