Journal of Pediatric Urology (2013) 9, e117ee122
CASE REPORT
Primary paratesticular neuroblastoma: An important differential diagnosis ´ndez Hurtado a,*, Sonia Pe ´rez Bertolez c, Michael Berger a,b, Miguel Ferna Israel Fernandez-Pineda a a
Department of Pediatric Surgery, Virgen del Rocı´o Children’s Hospital, Seville, Spain Department of Pediatric Surgery, Dr. von Hauner Children’s Hospital, Ludwig-Maximilians-University, Munich, Germany c Department of Pediatric Surgery, Hospital Universitario Virgen Macarena, Seville, Spain b
Received 14 September 2012; accepted 11 October 2012 Available online 9 November 2012
KEYWORDS Paratesticular neuroblastoma; Rare tumors; Cancer; Metastasis
Abstract Primary neuroblastoma as a paratesticular tumor is extremely rare with only 8 described cases worldwide. In this article, we present the case of a 5-month-old boy with this rare tumor location and give an update on the current literature. As in our case, typically these tumors present as Stage 1 disease and simple tumorectomy alone leads to excellent outcome and long-term survival. However, unawareness of this differential diagnosis and misinterpretation of intraoperative frozen sections have shown to result in delay of diagnosis and worse, overtreatment including orchiectomy and unnecessary chemotherapy. Therefore, primary paratesticular neuroblastoma must be considered as a differential diagnosis when evaluating and operating children with paratesticular tumors. ª 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
Introduction Paratesticular masses are a common disease entity encountered by pediatric surgeons and pediatric urologists
* Corresponding author. Department of Pediatric Surgery, Hospital Universitario Virgen del Rocı´o, Avenida Manuel Siurot S/N, 41013 Sevilla, Spain. E-mail address:
[email protected] (M.F. Hurtado).
alike. Even though rare, at times these masses represent malignant tumors such as rhabdomyosarcoma, leiomyosarcoma and liposarcoma. Additionally, neuroblastoma is well recognized to present with metastasis to the paratesticular region. True primary paratesticular neuroblastoma, however, is extremely rare, and to our best knowledge only eight cases have been described so far. Here we present one new case, review the current literature, and give practical consideration regarding the diagnostic and therapeutic approach towards this rare tumor location.
1477-5131/$36 ª 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.jpurol.2012.10.014
e118
Case A previously healthy 5-month-old boy presented with the proposed diagnosis of a spermatic cord cyst. History and review of systems were otherwise normal. Upon physical examination he was found to have a firm, non-tender mass in the right hemiscrotum that was clearly detached from the testicle and that did not transluminate. The remainder of the examination, including palpation of the abdomen and the contralateral scrotum, was within normal limits. Routine preoperative blood work showed no abnormalities. Additional tumor markers were drawn, and AFP was 19.9 UI/ml (normal < 20), HCG < 2 UI/ml and CEA 0.7 ng/ ml. An abdominal ultrasound showed normally developed intra-abdominal organs and a 2.8 1.8 cm echogenic, welldefined nodule in the right spermatic cord, proximal to the testicle. The child underwent surgical exploration one week later through a right inguinal approach. The tumor was localized easily, measured 3.5 2 cm and was found to be densely attached to the spermatic vessels (Fig. 1). An intraoperative frozen section showed a small-blue-round-cell tumor (SBRCT), and a radical orchiectomy was carried out. The postoperative recovery was uneventful; however, unexpectantly the final pathology report read as primary neuroblastoma (myc-negative). The child underwent a full neuroblastoma workup and was found to have mildly elevated urine catecholamines. A CT scan of chest and abdomen, a MIBG scan, and bone marrow biopsy did not show additional disease. Therefore, the tumor was classified as Stage 1 disease, and no further treatment other than observation was opted for at this time. The child is well and without relapse 6 months after the intervention.
Discussion Tables 1 and 2 give an overview of the existing literature regarding primary paratesticular neuroblastoma. To our knowledge, only 8 cases have previously been published [1e7], and we here describe the 9th case. Three other
Figure 1 The paratesticular mass is shown in situ. Note the dense association with the spermatic cord.
M. Berger et al. cases have been labeled as paratesticular neuroblastoma at initial presentation; however, successive workup discovered additional extrascrotal lesions [8e10]. Therefore, these cases cannot be accounted as true primary paratesticular neuroblastomas. To qualify as a primary paratesticular neuroblastoma, the mass must be situated in the paratesticular region, which includes the spermatic cord, the epididymis, the testicular tunis, and vestigial remnants. Additionally, no other cancerous lesions can be present. The case described by us meets all these criteria. Various theories exist concerning the origin of primary paratesticular neuroblastomas [2]. Theoretically, such a tumor could represent a metastasis of a primary or multicentric neuroblastoma in another location, which has spontaneously regressed. Whether this would represent a true primary paratesticular neuroblastoma is debatable. On the other hand, a true primary paratesticular neuroblastoma could originate from ectopic adrenal tissue localized in the spermatic cord, which is by no means an uncommon localization for adrenal ectopic tissue [11,12]. When comparing our case to those described in the literature, several characteristics are worthwhile to discuss. The typical age of presentation is during early infancy. The average age at diagnosis including our case is 8.7 months (range
