Renal primitive neuroectodermal tumour in childhood: Case report and review of literature

Abstract

Primitive neuroectodermal tumour (PNET) is presumed to be of neural crest origin, mostly presenting as bone or soft tissue masses. It usually occurs in the trunk or axial skeleton; while renal PNET is considered an extremely rare tumour. We report a case of 11-yearold male who presented with right flank pain and gross hematuria after suffering blunt trauma. During investigations, he was found to have a large renal mass on computed tomography. He underwent a right radical nephrectomy where the pathology report showed PNET of the kidney. The patient received chemotherapy afterwards. Despite the chemotherapy, he had a local tumour recurrence 3 months after and continued to deteriorate and developed distant metastasis. Primitive neuroectodermal tumour of the kidney is a distinct and rare entity. It is very aggressive, with a poor survival despite combined modality treatment.

A Rare Case of Primitive Neuroectodermal Tumour (Pnet) of Kidney with Review of Literature

“…It is a very rare tumour representing about 1% of all sarcomas. It can occur in the trunk, extremities, brain, spinal cord and sympathetic nervous system as well as peripheral tissues, paraspinal region, and less commonly, genitourinary tract [1] . Renal PNET was first described by Seemayar et al [2,3] .…”

“…In 85 to 90% cases of Ewings family tumours, a recurrent chromosomal translocation, t (11; 22) (q24; q12), fuses the 5' portion of the EWSR1 gene on chromosome 22 to the 3' portion of the FLI1 (friend leukemia integration locus-1) gene on chromosome 11wich can be detected by flouresceneinsitu hybridization. Using a large panel of immunohistochemical markers is often essential [cytokeratin, EMA, WT1 (Wilms tumour 1), synaptophysin, muscle specific actin, desmin, myogenin, leukocyte common antigen (LCA) and CD45] to exclude other round cell tumours because of their important similarities [1][2][3][4][5][6][8][9][10][11][12][13][14] . Differential diagnosis of renal PNET includes wilms tumour, neuroblastoma, clear cell carcinoma, lymphoma, rhabdomyosarcoma, small cell variant of osteosarcoma and small cell anaplastic neuroendocrine carcinoma.…”

“…Differential diagnosis of renal PNET includes wilms tumour, neuroblastoma, clear cell carcinoma, lymphoma, rhabdomyosarcoma, small cell variant of osteosarcoma and small cell anaplastic neuroendocrine carcinoma. Renal PNET is a highly aggressive tumour with high metastatic potential and almost 50% of patient present with distant metastases, most commonlyto regional lymph nodes, lungs liver and bones [1][2][3]11,12] . Prognostic factors are tumour stage, grade, patient's age, extent of surgery, surgical margin status and treatment beginning time [2,11] .…”

“…Prognostic factors are tumour stage, grade, patient's age, extent of surgery, surgical margin status and treatment beginning time [2,11] . The 5-year disease-free survival rate is 45% to 55% and median relapse free survival is 2 years in patients with metastatic disease [1,9] . There are no standard guidelines for the treatment of renal PNET [11] .…”

Unilateral Renal Primitive Neuroectodermal Tumor (PNET)

“…The 5-year disease free survival for extra skeletal PNETs is about 45% to 55%. Renal PNETs are more aggressive and often metastasize early to the lymph nodes, lungs, liver, and bones (3)(4)(5).…”