Case Studies

1. Adult Wilms' tumour: a case report with review of literature

 

Background

Nephroblastoma or Wilms' tumor is the most common malignant renal tumor in children. It accounts for approximately 5–6% of the neoplasms in children and is rare in the adult population. Less than 3% of all the reported Wilms' tumor cases occur in adults. The overall survival to the tune of 83% has been recently reported with the use of primary nephrectomy followed by adjuvant combination chemotherapy.

 

Case report

A 48-year-old male presented with haematuria and dull aching pain in the right flank. The general examination of the patient was unrevealing, with no lymphadenopathy or bony tenderness. The chest, cardiovascular and neurological examination was normal. Abdominal examination revealed a mildly tender mass palpable in the right lumbar region. Routine laboratory investigations including a full blood count, chest X-ray, and renal function tests were normal. Urine examination showed plenty of RBCs in high power field.

An ultrasound examination of the abdomen revealed an echogenic mass in the upper part of the right kidney measuring 11 × 10 cm. No calcified areas were noted; the renal pelvis and renal vein were not involved. The other abdominal viscera were radiologically normal. There was no lymph node enlargement. A provisional diagnosis of renal cell carcinoma was made and right radical nephrectomy performed.

Grossly, the nephrectomy specimen weighed 480 grams and showed a solid spherical tumor measuring 10.5 × 10 cm. The cut surface was variegated with grey white, fish flesh appearance. The adjacent renal parenchyma appeared normal. The renal capsule was intact. There was no involvement of the renal pelvis or vein.

Microscopically, the tumor was highly cellular comprising of epithelial, blastemic and stromal elements. The epithelial element comprised of tubules admixed with blastemic cells (Fig. 1). The tubular lining cells had elongated, molded, and wedge shaped nuclei exhibiting frequent mitoses. The tubular pattern resembled pseudo-rosettes at places (Fig. 2). The blastemic component had solid areas showing cells with oval nuclei and scanty cytoplasm. The stroma with spindle cells had no specific differentiation. There was no area showing anaplasia. A final diagnosis of adult Wilms' tumor with triphasic pattern and a favorable histology, stage 2, was made.

Figure 1. Triphasic pattern showing tubules, solid sheets of cells, and stromal differentiation.

Figure 2. Tubular pattern resembling pseudo-rosettes at places.

Adjuvant treatment was started as per Intermediate Risk protocol for Stage I Node negative disease with vincristine 1.4 mg/m2 and actinomycin D 15 mcg/kg. The patient remains in complete remission after 14 months of follow up.

 

Discussion

Wilms' tumor, named after the 19th century German surgeon Carl Max Wilhelm Wilms, is probably derived from primitive metanephric blastema. The histological appearance is characterized by marked structural diversity. Classic Wilms' tumor is composed of three types of cells – blastemal, stromal, and epithelial; although the occurrence of all three types in the same case is uncommon .

Adult Wilms' tumor is diagnosed based on the criteria given by Kilton, Mathews, and Cohen . These include 1) the tumor under consideration should be a primary renal neoplasm; 2) presence of primitive blastemic spindle or round cell component; 3) formation of abortive or embryonal tubules or glomerular structures; 4) no area of tumor diagnostic of renal cell carcinoma; 5) pictorial confirmation of histology and 6) patient's age >15 years. Kilton et al (1980) reported 35 cases of adult Wilms' tumor complying with all the above criteria.

To the best of our knowledge, the present case is only the second case in Indian literature to have the classic triphasic histology. Blastemic component was predominant in the histology in 6 out of the 8 adult Wilms' reported in Indian literature .

The differential diagnosis of an adult Wilm's tumor with mainly epithelial differentiation includes metanephric adenoma. A predominant blastemic Wilms' tumor has a strong resemblance to small, blue round cell tumors which commonly include lymphoma, peripheral neuro-ectodermal tumor and rhabdomyosarcoma; and rarely metastatic small cell tumors from lung, immature teratoma, and primary renal cell sarcoma. Extensive search for any other components is needed as a poorly differentiated renal carcinoma can have large sarcomatous areas resembling blastema .

Most adults present with local pain and haematuria, in contrast to the palpable boggy mass which is more common in children. In adults, Wilms' tumor is larger and ill-defined, with areas of necrosis and hemorrhage. About half of the patients have stage 3 or 4 disease . There are about ten cases of extra-renal Wilms' tumors in adults documented in the literature. Four of them were in the retroperitoneal region, two each in the ovary and endometrium, and one each in ovotestis and prostate ].

Tremendous data on the biology and epidemiology of Wilms' tumor has been generated by the National Wilms' Tumor Study (NWTS) which was established in the USA in 1969. An update from the NWTS group about treatment outcomes in adults with favorable histology Wilms' tumor (FHWT) described 45 patients treated in the modern era. The overall survival rate was 82% .

In 2004, Reinhard et al reported their experience with 30 cases of adult Wilms Tumor . A complete remission was achieved in 24 of their patients. Event-free survival was 57%, and overall survival was 83%. They concluded that adults can be cured in a high percentage by a multimodal treatment according to pediatric protocols.

Wilms' tumor in adults has a worse prognosis than in the pediatric population, a phenomenon for which there is no adequate explanation . As adult Wilms' tumor is rare, randomized trials cannot be performed. It has been suggested by most authors that to evaluate concepts for adequate treatment, results of randomized trials with childhood Wilms' tumor should be extrapolated. National Wilms' Tumor Study (NWTS) and other studies have recommended multimodal therapy for the disease with surgery, chemotherapy (actinomycin D, vincristine and doxorubicin) for 15 months and tumor bed irradiation in the case of stage 3 disease. Less aggressive therapy with two drugs is advised in stage 1 and 2 disease.

 

Conclusion

The possibility of an adult Wilms' tumor should be considered when a patient presents with pain in the flank and a renal mass. Although the prognosis is poorer than that of children when the disease is compared stage for stage, the outcome for adult patients diagnosed with Wilms' tumor is steadily improving.

 Resource: http://www.diagnosticpathology.org/content/1/1/46

 

2. Nephroblastoma (Wilms’ Tumor)

 

Patient's History

Sex: F, Age: 5 years

Diagnosis: Nephroblastoma (Wilms’ Tumor)

 

Case history:

The patient is a 5 year old female, weight 16.7 kg, height 114 cm. Her parents report that the patient had a growth deficit due to cow’s milk intolerance at 9 months. She had her adenoids removed and she was diagnosed with a bilateral inguinal hernia during her last hospitalization.

The patient was brought to the emergency room due to occasional left abdominal swelling.

An ultrasound showed the presence of a solid mass adhered to the top of the left kidney.

After being transferred to other Hospital, the patient had a Total Body CAT scan with contrast medium, a chest x-ray and a range of blood chemistry tests (in her urine: Vanilmandelic acid 7.2 and homovanillic acid 12.5), which allowed a diagnosis of stage I Wilms’ Tumor (the mass was contained and no metastases were found).

The patient was transferred to the Oncology Unit where a catheter was installed to begin chemotherapy in accordance with the International Pediatric Oncology regimen: 4 sessions, two of which with Vincristine 1 mg and Actinomycin D 750 mcg, and 2 with only one medication prior to surgery in week 5, and then 5 more weeks of chemotherapy.

 

Expert's Answer

 

Looking carefully at the attached images, I do agree with the radiologist that the tumor staging is consistent with stage 1. Nevertheless, although there is a high probability that the mass is a Wilms' tumor, the definitive diagnosis and staging could be defined only after a pathological examination of the mass and the lymph nodes.

To assess the actual pathology, the patient should have undergone surgery prior to chemotherapy. This attitude reflects the protocol adopted by American oncologists in the late 1960s, followed by five comprehensive studies, known as the National Wilms' Tumor Study (NWTS), attempting to determine optimal treatment for the different stages of Wilms' tumor. According to NWTS, the initial treatment in cases similar to the case here under discussion, should include surgery, and then followed by chemotherapy only after a definitive diagnosis and staging were determined. NWTS investigators recommended immediate nephrectomy because the administration of prenephrectomy chemotherapy may be associated with the following undesirable outcomes: 1. Administration of chemotherapy to a patient with a benign disease; 2. Administration of chemotherapy to a patient with a different histology type of malignant tumor; 3. Modification of tumor histology; or 4. Loss of staging information.

 

Contrary to this way of thinking, in the early 1970s a newly established European group called the International Society of Pediatric Oncology (SIOP) conducted comprehensive prospective protocols in which pre-operative chemotherapy was followed by surgery. SIOP hypothesizes  that this approach usually results in tumor shrinkage, reducing the risk of intra-operative spill (Lemerle et al., 1976). It is also postulated that the neo-adjuvant therapy will treat micro-metastases, leading to a more favorable stage distribution at the time of surgery. Finally, SIOP have claimed that the risk of non-cancerous lesion is only 1%.

 

Although the National Wilms' Tumor Study Group and the International Society of Pediatric Oncology differ regarding the merits of pre-operative chemotherapy, outcomes of patients treated with either up-front nephrectomy or pre-operative chemotherapy have been excellent.; children with stage 1 and a favorable histology have 4-5 years event free survival that approaches 90%.

According to SIOP 9 the patient should receive 4 weeks of pre-nephrectomy treatment with vincristine and dactinomycin. However, for selected patients, shorter courses of vincristine/dactinomycin or vincristine alone show equivalent results compared to current regimens (D'Angio, Curr. Opi Urol, 2005).

 

In my opinion, no further diagnostic or laboratory tests are currently needed in addition to those that have already been done.

 

Regarding lifestyle, hygiene and diet during and after treatment:

The chemotherapy administered to the patient usually does not cause severe side effects. Thus, we do not limit diet in any way. Nevertheless we instruct our patients' parents to carefully wash all fresh fruit and vegetables, and to try to avoid pastries from restaurants during chemotherapy. In cases where the white cell counts are going down, we recommend avoiding exposure of the child to people, but usually the patient does not need to be in isolation.

We also do not recommend performing physical effort for 6-7 weeks after surgery.

 

Surgery should be performed by the most experienced team at the patient's institution, either by the surgeons or the urologists; I would also recommend considering fixing the patient's hernias at the time of the nephrectomy.

 Resource:    http://www.doctorsmedicalopinion.com/content/nephroblastoma-wilms%E2%80%99-tumor

    

 

3.Adult's Wilms Tumor

Wilms’ tumour is most common malignant renal tumour of childhood. Rarely, it may be seen in the adults. We report a 35 year old male presenting with flank pain. Abdominal CT scan revealed a right renal mass and a clinical diagnosis of renal cell carcinoma was made. Nephrectomy was performed, and a final diagnosis of adult Wilms’ tumour was made. This case in being reported on account ot its rarity. Pertinent literature is being reviewed.

 

Case : A 35 year old male, presented with history of abdominal lump and pain of one month duration. CT scan abdomen showed 13x11x12mm well-defined lobulated heterogeneously enhancing mass lesion with internal necrotic areas involving the upper pole of right kidney indenting the inferior surface of right lobe of liver, displacing the second part of duodenum, head pancreas and IVC medially. Right renal vessels were displaced but were patent. Left Kidney was normal (Fig. 1). Fine Needle aspiration cytology from the mass revealed round cell tumour.The hematological and biochemical parameters were within normal limits Chest x-ray-normal. Patient underwent right radical nephrectomy and histopathology revealed Adult Wilms’ tumour, measuring 13.5 cm, triphasic tumour showing predominantly blastemal component with 

variable mesenchymal and epithelial component (Fig. 2), necrosis+++, heterogeneous components i.e. bone, cartilage, squamous epithelium with keratin also seen (seen as minortumour component). Vascular invasion was absent. Tumour was present in peritoneal fat and showed metastatic foci in one perirenal lymph node. Cut end of renal vessels was free of tumour. Post operatively patient received chemotherapy using Actinomycin – D, vincristine followed by adjuvant radiotherapy as on lines of pediatric Wilms’ tumour protocol.

 

for further information on this report see, http://medind.nic.in/ias/t08/i4/iast08i4p37.pdf 

 

4.Wilms Tumor with Aniridia: A case Report 

 

 

 CASE

A 19-month-old girl presented with abdominal swelling of 4-month duration. She is one of twin sisters delivered normally at term. The twins

for details of this report see,   http://medind.nic.in/ias/t05/i1/iast05i1p43.pdf

  

Here there is 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.

Resource:   http://www.springerlink.com/content/g840p58t68558441/

were considered monozygotic because of their phenotypic similarity. On examination she was found to have bilateral aniridia, non-tender right

lumbar swelling with normal physical and mental development. Other than aniridia there was no congenital anomaly. There was no family

history of aniridia or renal tumours. CT scan abdomen showed 70mm x 43mm x 36mm well defined heterogenous mass in superolateral aspect of right kidney, with the left kidney being normal. She had a normal chest skiagram. Fine needle aspiration cytology from the right renal mass was suggestive of Wilms tumour. Cytogenetics showed normal karyotyping (46 xx). Ophthalmological examination revealed bilateral aniridia with no other abnormalities The other sister was also examined and was found to have bilateral aniridia but without any evidence (clinical and radiological)

of Wilms tumour.