Primary Ewing sarcoma/primitive neuroectodermal tumor of the renal pelvis: a case report
© Liu et al.; licensee BioMed Central Ltd. 2014
Received: 2 September 2013
Accepted: 7 April 2014
Published: 22 September 2014
Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) is a childhood malignancy, typically occurring in the bone and rarely in any other part of the body. We herein present a case of ES/PNET of the renal pelvis. A 37-year-old male patient presented with a chief complaint of pain in the left flank and gross hematuria. The tumor had caused moderate hydronephrosis, and ureteroscopic biopsy findings were highly suspicious of sarcoma. Subsequently, radical nephroureterectomy was performed. On the basis of the pathological and cytogenetic findings, a final diagnosis of primary ES/PNET of left renal pelvis was made. Adjuvant chemotherapy with adriamycin and ifosfamide was initiated as ES/PNET often exhibits aggressive biological behavior. The patient was disease-free at his last regular follow-up visit 18 months after the surgery. To our knowledge, this is the first reported case of primary ES/PNET of the renal pelvis.
Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) is the second most common form of bone malignancy (after osteosarcoma) occurring in childhood . However, ES/PNET of extra-skeletal origin is an extremely rare entity. With the exception of ES/PNET arising from the renal parenchyma, ES/PNET of the renal pelvis has never been reported in the literature. To help establish the biological nature of primary ES/PNET of the renal pelvis, we present the clinical, diagnostic, and therapeutic aspects of this rare neoplasm along with a review of the literature.
A 37-year-old male patient was admitted with a chief complaint of intermittent pain in the left plank and gross hematuria. His past medical history and findings of a physical examination were unremarkable. Results of his blood chemistry and routine blood tests were within the normal range. Urine cytology showed no signs of malignancy. Ultrasonography demonstrated a 4-cm hypoechoic mass occupying the dilated left renal pelvis, the presence of which was subsequently confirmed by enhanced computed tomography (CT) (Figure 1) and left retrograde pyelography. Cytology of the washout fluid obtained from the retrograde catheterization was also negative for malignancy. Further clinical investigations showed no evidence of metastasis. A preoperative ureteroscopic biopsy performed, with findings highly suspicious of sarcoma. The patient subsequently underwent open, left radical nephroureterectomy with excision of the bladder cuff. No intraoperative or postoperative complications developed.
Symptoms & signs
Abdominal pain, massive bleeding
Cystic embryonal sarcoma
Flank pain, gross hematuria
Gross hematuria, voiding difficulty, flank tenderness
Urinary frequency, weakness, weight loss
Our case 2012
Flank pain, gross hematuria
Histologically, lymphoblastic lymphoma, neuroblastoma, rhabdomyosarcoma, poorly differentiated synovial sarcoma, and Wilms tumor are included in the differential diagnosis of ES/PNET because they are all small round cell tumors. High levels of universal membranous CD99 expression are seen in ES/PNET cells, but this is not specific for ES/PNET. Thus, a broad immunohistochemistry panel may aid in differentiating these unique entities, even though this is sometimes difficult. Recently, molecular techniques have been increasingly used to confirm the diagnosis of ES/PNET, as it is one of the few solid tumors for which underlying chromosomal translocations have been described . The most common translocation is the t(11, 22) (q24; q12), detected in more than 85% of ES/PNET by FISH or reverse transcription-polymerase chain reaction. Accurate diagnosis is essential, as these tumors require different treatment strategies.
As ES/PNET rarely spreads to lymph nodes, the single most important factor considered when planning initial treatment is the extent of disease at presentation, with the lungs being the most common site of metastasis. Initial presentation is the main factor that influences prognosis. The 5-year survival rate associated with extraskeletal ES/PNET in adults is 60% and 33% for non-metastatic and metastatic disease [1, 12], respectively. Surgical resection may be the treatment of choice for local control in ES/PNET. However, ES/PNET often results in rapid recurrence or metastasis, even after complete resection. Therefore, patients with ES/PNET may require multidisciplinary management, combining systemic neoadjuvant and/or adjuvant chemotherapy with local control measures (surgery and/or radiation). Ifosfamide-based protocols appear to confer a survival advantage in ES/PNET patients [12, 13]. Novel molecular-targeted therapies for the treatment of ES/PNET have now transitioned from the laboratory to the clinical setting. In a recent phase I trial of a fully human IgG2 monoclonal antibody targeting the insulin-like growth-factor-1 receptor, figitumumab, a number of patients with refractory, advanced ES/PNET responded unexpectedly well . Such patients should be informed about relevant clinical trials and encouraged to enter these trials. Due to the rarity of this condition, the impact of different treatment modalities (simple nephrectomy vs. radical nephrectomy vs. radical nephroureterectomy with or without chemotherapy and/or radiotherapy) on outcomes cannot be evaluated until more cases have been reported.
Due to a limit on the number of references, many primary papers could not be cited. We apologize for this.
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