|Year : 2015 | Volume
| Issue : 4 | Page : 1038
Fulminant Buddchiari syndrome caused by renal primitive neuroectodermal tumor with inferior vena cava thrombus extending to atrium
Uttam K Mete1, Dig Vijay Singh1, Anish Bhattacharya2, Nandita Kakkar3
1 Department of Urology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India
3 Department of Pathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
|Date of Web Publication||15-Feb-2016|
Dig Vijay Singh
Department of Urology, Post Graduate Institute of Medical Education and Research, Chandigarh - 160 012
Source of Support: None, Conflict of Interest: None
Primitive neuroectodermal tumors (PNET) of the kidney are rare, the diagnosis usually being made at histopathology. A young female presented with a massive right renal mass with features of hepatic dysfunction. Computed tomography scan of the abdomen revealed a large tumor of right kidney with tumor thrombus extending from inferior vena cava (IVC) to right atrium with features suggesting buddchiari syndrome (BCS). Needle biopsy of mass showed a round cell neoplasm and positive staining for neuron specific enolase and minimum inhibitory concentration-2 on immunohistochemistry. She was managed with neo-adjuvant chemotherapy, surgery and adjuvant chemotherapy. To the best of our knowledge this is the first case of renal PNET with inferior IVC tumor thrombus extending to right atrium with BCS. We suggest that renal PNET should be kept in mind as a differential diagnosis in young adults presenting with a large kidney mass extending to IVC that shows evidence of necrosis on imaging, which may be associated with BCS as in index case.
Keywords: Buddchiari syndrome, inferior vena cava, kidney neoplasms, primitive neuroectodermal tumors
|How to cite this article:|
Mete UK, Singh DV, Bhattacharya A, Kakkar N. Fulminant Buddchiari syndrome caused by renal primitive neuroectodermal tumor with inferior vena cava thrombus extending to atrium. J Can Res Ther 2015;11:1038
|How to cite this URL:|
Mete UK, Singh DV, Bhattacharya A, Kakkar N. Fulminant Buddchiari syndrome caused by renal primitive neuroectodermal tumor with inferior vena cava thrombus extending to atrium. J Can Res Ther [serial online] 2015 [cited 2020 Jul 3];11:1038. Available from: http://www.cancerjournal.net/text.asp?2015/11/4/1038/139528
| > Introduction|| |
Buddchiari syndrome (BCS) is defined as hepatic venous outflow obstruction at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) and the right atrium, regardless of the cause of obstruction. IVC extension of renal cell carcinomas (RCCs) thrombus is well-known, however it rarely causes BCS.,
| > Case Report|| |
This was a case report of a 20-year-old lady who presented with gross hematuria on and off for 8 months, whereas right flank pain with distention, mild fever on and off and swelling in both lower limbs for 3 months. Her symptoms were associated with loss of weight and appetite. She also complained of irregular prolonged bleeding phase of menstrual cycle. Physical examination revealed pallor, bilateral pedal edema, distended abdomen with visible superficial veins and umbilicus pushed to left. A non-tender, firm, immobile mass was papable in right hypochondrium, epigastrium, right lumbar and umbilical region. The laboratory examination showed anemia (Hb 7.9 g/dl), mild raised creatinine (1.34 mg/dl, normal <1.2 mg/dl), normal total bilirubin (0.68 mg/dl, normal <1.2 mg/dl), markedly elevated hepatic enzymes (serum glutamic-oxaloacetic transaminase: 217.80 U/l, serum glutamic-pyruvic transaminase: 185.79 U/l and Alk.PO4: 131 U/l), raised lactate dehydrogenase (LDH: 1027 U/l, normal: 240-480) and prolonged prothrombin time with international normalized ratios of 1.56. Serology was negative for hepatitis B and C. Urine microscopy revealed red blood cells 10-20/hpf (normal <3/hpf) and culture was sterile.
Abdominal ultrasonography showed moderate hepatomegaly, mild ascites with extensive thrombosis in the hepatic veins and the IVC. To evaluate the lesion, computed tomography (CT) scan was performed, which revealed a hypovascular right renal mass with thrombosis in the right renal vein, extending to the IVC and hepatic veins. The tumor was extending along the IVC, into the right atrium [Figure 1]. Fludeoxyglucose 18 positron emission tomography and CT did neither show any increased metabolic activity in the renal mass or in the tumor thrombus and no definite evidence of distant metastasis [Figure 2]. Needle biopsy of renal mass was performed to confirm the diagnosis. Microscopically the tumor was composed of small round cells with scanty cytoplasm and vesicular nuclei forming occasional rosettes [Figure 3]. Immunohistochemically the tumor cells were positive for minimum inhibitory concentration-2 (MIC-2) and NSE, suggesting a diagnosis of primitive neuroectodermal tumor.
|Figure 1: Contrast Enhanced computed tomography scan images showing right renal mass at hilar level (a), tumor thrombus extension to inferior vena cava (IVC) in supra-hilar level (b), dilated intrahepatic veins (c) and tumor thrombus extension in right atrium through IVC (d)|
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|Figure 2: Fludeoxyglucose18 positron emission tomography and computed tomography images not showing any increased metabolic activity and no definite evidence of distant metastasis in coronal (a) and saggital (b) planes|
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|Figure 3: Low (a) and high (b) magnification of the histology slides showing a tumor composed of round cells with scanty cytoplasm and large hyperchromatic nuclei|
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Chemotherapy (vincristine, doxorubicin and actinomycin) was begun, with two additional cycles of vincristine alone. After this the patient underwent right nephrectomy and resection of the intravascular component from the IVC and heart, with cardiopulmonary bypass. A patch enlargement of the IVC was performed using bovine pericardium. The resected kidney weighed 2500 g and measured 22 × 16 × 14 cm. It had been superior-medially replaced by flaccid tumor measuring 20 cm in maximal diameter, appeared predominantly necrotic. Microscopically, the tumor was well-circumscribed, with viable areas composed of sheets of small ovoid cells with little cytoplasm and nuclear pleomorphism. Focally, it had spindle cell morphology with no epithelial elements. Immunohistochemical staining revealed the tumor cells to express CD56, bcl-2 and CD99. Fluorescence in situ hybridization demonstrated a population of cells with a Ewing's sarcoma (EWS) breakpoint and reverse transcriptase-polymerase chain reaction demonstrated the presence of the EWS-FLI1 fusion transcript with appropriate positive and negative controls. The features were those of primary intra-renal primitive neuroectodermal tumors (PNET). In view of these findings and the clinical features, six cycles of postoperative chemotherapy were administered (vincristine, iphosphamide, doxorubicin and adriamycin) with an additional consolidation cycle of vincristine, actinomycin and iphosphamide. At 6 months of follow-up, the patient was in clinical remission and waiting additional high-dose cycles of busulfan and melphalan. However, the patient deteriorated and died shortly thereafter.
| > Discussion|| |
BCS can be classified by etiology and the duration of disease. With regard to etiology, the BCS is classified as primary (endoluminal venous lesion like thrombosis or web) or secondary (a malignant tumor or a parasitic mass invading the lumen or from extrinsic compression by a neighboring tumor). A variety of malignant tumors may be associated with secondary BCS, including primary hepatocellular carcinomas, sarcomas arising from the IVC, Wilms's tumors, adrenal tumors, RCCs and very rarely by PNET such as the one observed in this patient.
PNET most often occurs in cerebral and cerebellar tissues. Extracranial PNET can occur in any location of the body. PNET are small round cell malignancies of presumed neural crest origin that arise from outside the central and sympathetic nervous system. PNET arising from the kidney is extremely rare and bear a poor prognosis. On review of literature, out of total 103 renal PNET with tumor thrombus, 51 cases (49.5%) had renal vein thrombus and 34 cases (33%) had the tumor thrombus extension into IVC. Five cases were found in which the tumor thrombi reached the right atrial level or intrahepatic vein., To the best of our knowledge, the present case is the first case of renal PNET with IVC tumor thrombus extending to right atrium with BCS, with classical presentation of large renal mass and features of hepatic dysfunction.
The distinction from other primary malignancies of the kidneys is crucial for prognosis. The differential diagnosis includes extra-osseous EWS, rhabdomyosarcoma, Wilm's tumor, carcinoid, neuroblastoma, clear cell sarcoma of the kidney, lymphoma, the small cell variant of osteosarcoma, desmoplastic small round cell tumor and nephroblastoma. The Homer-Wright typerosettes, commonly less defined in extra skeletal EWS, are a typical histological feature for PNET and can address the diagnosis although they can also be found in neuroblastoma. To better address the diagnosis, an immunohistochemical analysis is necessary. In our case, the presence of MIC-2 gene products, known also as CD99, 12E7, E2, 013 and HBA71, suggested a PNET diagnosis.
Considering rarity of the tumor, there is no standard treatment protocol. Most authors recommend surgery followed by multi drug chemotherapy and if surgically not amenable due to massive size, then first down staging by chemotherapy followed by surgery as we followed here. We suggest that PNET of the kidney should be kept in mind as a differential diagnosis in young adults presenting with a large kidney mass extending to IVC that shows evidence of necrosis on imaging, which may be associated with BCS as in our case.
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[Figure 1], [Figure 2], [Figure 3]