|Year : 2015 | Volume
| Issue : 2 | Page : 82-83
A rare case of bilateral cystic nephroma associated with embryonal rhabdomyosarcoma of the penile urethra
Jujju Jacob Kurian1, Sudipta Sen1, Reju Thomas Joseph1, Mandeep Singh Bindra2
1 Department of Paediatric Surgery, Christian Medical College, Vellore, Tamil Nadu, India
2 Department of Pathology, Christian Medical College, Vellore, Tamil Nadu, India
|Date of Web Publication||17-Feb-2015|
Dr. Jujju Jacob Kurian
Department of Paediatric Surgery, Christian Medical College, Vellore, Tamil Nadu
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Bilateral cystic nephroma is an extremely rare benign renal neoplasm. Here we present a case of bilateral cystic nephroma in a four month old boy who subsequently developed embryonal rhabdomyosarcoma of the urethra. Both tumors were successfully treated. To our knowledge this is the first reported case of this association which could be related to Dicer-1 mutation.
Keywords: Bilateral cystic nephroma, Dicer-1 mutation, urethral embryonal rhabdomyosarcoma
|How to cite this article:|
Kurian JJ, Sen S, Joseph RT, Bindra MS. A rare case of bilateral cystic nephroma associated with embryonal rhabdomyosarcoma of the penile urethra. J Indian Assoc Pediatr Surg 2015;20:82-3
|How to cite this URL:|
Kurian JJ, Sen S, Joseph RT, Bindra MS. A rare case of bilateral cystic nephroma associated with embryonal rhabdomyosarcoma of the penile urethra. J Indian Assoc Pediatr Surg [serial online] 2015 [cited 2019 Dec 7];20:82-3. Available from: http://www.jiaps.com/text.asp?2015/20/2/82/151553
| Introduction|| |
Cystic nephroma also called multilocular cystic nephroma is an uncommon benign renal neoplasm. Bilateral cystic nephromas are very rare with five cases described in the English literature.  Though rhabdomyosarcoma is a very common soft tissue sarcoma that occurs in children, rhabdomyosarcoma affecting the penile urethra is extremely rare.  Here, we present a case of bilateral cystic nephroma who subsequently developed embryonal rhabdomyosarcoma of the penile urethra.
| Case Report|| |
A 4-month-old male child presented in 2009 with the right flank mass that was progressively increasing for 2 months. Examination revealed a soft, cystic, mobile, nontender, bimanually palpable and ballotable mass in the right lumbar region. The left flank was normal. Imaging (ultrasonography and computed tomography) revealed two well-circumscribed multilocular noncommunicating cystic lesions, the larger one arising from the middle and lower pole of the right kidney, and a smaller one from the upper pole of the left kidney. A diagnosis of bilateral cystic nephroma/bilateral cystic partially differentiated nephroblastoma (CPDN) was made on the basis of the imaging.
He underwent bilateral partial nephrectomy in April 2009. Histolopathologic analysis revealed it to be bilateral cystic nephroma. He was well for a period of 2 years when he developed a polypoidal mass protruding from the external urethral meatus. Biopsy revealed it to be an embryonal rhabdomyosarcoma. He was categorized as stage 1 RMS and complete excision of the penile urethra with eight cycles of the postoperative vincristine, actinomycin-D, and ifosfamide was administered. A dorsal island prepucial flap urethroplasty was done to reconstruct his urethra. The child is doing well more than 2 years after excision of the urethral rhabdomyosarcoma.
| Discussion|| |
Bilateral cystic nephromas are extremely rare benign renal neoplasms with five cases described in the English literature. Unilaterality was one of the eight diagnostic criteria proposed by Powell et al.  for the diagnosis of cystic nephroma, the other seven being solitary lesion; multilocular lesion; noncommunication of the cyst with the renal pelvis; noncommunication of the cysts with each other; loculi lined by epithelium; intralocular septa devoid of renal parenchyma; and if residual renal tissue was present, it should be normal. These criteria were modified by Boggs and Kimmelstiel  to include the presence of immature renal tissue in the intervening septa. More recently elimination of unilaterality from the diagnostic criteria has been proposed in consideration of the increasing numbers of bilateral cystic nephroma.
Cystic nephromas mostly are seen in male children <2 years of age. Common modes of presentation include abdominal mass, abdominal pain, and/or hematuria. The most common differential diagnosis is a CPDN and cystic Wilms tumor. CPDN is a lesion with low malignant potential, which is radiologically and grossly indistinguishable from cystic nephroma. Differentiation between the two is based on histological confirmation of the presence of blastemal cells within the septa. Differentiation from cystic Wilms is based on the absence of solid elements other than septa in cystic nephroma. 
Association of cystic nephroma with embryonic rhabdomyosarcoma has not been noted in the literature. However, an association of bilateral cystic nephroma with pleuropulmonary blastoma has been described  with Dicer-1 mutation being implicated as the cause. Germline mutation in Dicer-1 causes a variety of cancers, the most common being pleuropulmonary blastoma, cystic nephroma, and ovarian Sertoli-Leydig cell tumors.  Rarely sporadic embryonal rhabdomyosarcoma has been found to be caused by Dicer-1. , Dicer-1 gene expresses a protein that plays an important role in regulating the activity of other genes by aiding the formation of micro RNA. Since bilateral cystic nephroma and urethral rhabdomyosarcoma are extremely rare lesions, their occurrence in the same child is unlikely to be coincidental. Dicer-1 mutation could be the cause of this association, but the genetic analysis could not be done due to financial reasons.
| References|| |
Sodhi KS, Suri S, Samujh R, Rao KL, Vaiphei K, Saxena AK. Case report: Bilateral multilocular cystic nephromas: A rare occurrence. Br J Radiol 2005;78:450-2.
Liu AX, Zhou JH, Jin HM, Zhu CK, Cheng XD. Primary rhabdomyosarcoma of urethra in a 5-year-old girl: Case report and literature review. Urology 2007;69:1208.e17-9.
Powell T, Shackman R, Johnson HD. Multilocular cysts of the kidney. Br J Urol 1951;23:142-52.
Boggs LK, Kimmelstiel P. Benign multilocular cystic nephroma: Report of two cases of so-called multilocular cyst of the kidney. J Urol 1956;76:530-41.
Agrons GA, Wagner BJ, Davidson AJ, Suarez ES. Multilocular cystic renal tumor in children: Radiologic-pathologic correlation. Radiographics 1995;15:653-69.
Bhardwaj AK, Sharma PD, Mittal A, Sharma A. Bilateral cystic nephroma with pleuropulmonary blastoma. BMJ Case Rep 2011;2011.
Bahubeshi A, Bal N, Rio Frio T, Hamel N, Pouchet C, Yilmaz A, et al.
Germline DICER1 mutations and familial cystic nephroma. J Med Genet 2010;47:863-6.
Doros L, Yang J, Dehner L, Rossi CT, Skiver K, Jarzembowski JA, et al.
DICER1 mutations in embryonal rhabdomyosarcomas from children with and without familial PPB-tumor predisposition syndrome. Pediatr Blood Cancer 2012;59:558-60.
Doros LA, Rossi CT, Yang J, Field A, Williams GM, Messinger Y, et al.
DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. Mod Pathol 2014;27:1267-80.