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Metastatic neuroblastoma presenting as a scrotal mass in an infant
Journal of Pediatric Urology (2011) 7, 495e497
CASE REPORT
Metastatic neuroblastoma presenting as a scrotal mass in an infant Robyn C. Reed a,*, Anthony Casale b a b
Department of Pathology, Kosair Children’s Hospital, 2nd Floor, 231 East Chestnut Street, Louisville, KY 40202, USA Department of Urology, Kosair Children’s Hospital, 2nd Floor, 231 East Chestnut Street, Louisville, KY 40202, USA
Received 14 September 2010; accepted 15 November 2010 Available online 5 January 2011
KEYWORDS Neuroblastoma; Scrotal mass; Metastases; Paratesticular tumor; Infants
Abstract Objective: Neuroblastoma is a common malignancy of infancy and childhood. The scrotum and paratesticular tissues are rare sites of presentation. We report the case of an infant who presented with a scrotal mass that proved to be a metastatic neuroblastoma. Patient and results: A previously healthy 4-month-old boy presented with a scrotal mass. Ultrasound and surgery showed a well circumscribed, 1.2-cm nodule in the inferior scrotum, associated with dartos fascia. Intraoperative frozen section revealed a small round blue cell tumor, prompting a wider excision. Final diagnosis was poorly differentiated neuroblastoma with unfavorable histology. Further imaging revealed a large adrenal mass, with hepatic and pleural metastases. Conclusion: Metastatic and primary neuroblastomas are rare causes of scrotal mass in infants and children. Treatment and prognosis depend on factors including patient age, histology and stage. Stem-cell-supported chemotherapy is the current treatment of choice for high-stage, high-risk neuroblastoma, as in this case. The differential diagnosis of pediatric scrotal neoplasms is broad, and several small round blue cell tumors can present in the scrotum and paratesticular tissues. Preoperative ultrasound of the scrotum and abdomen may assist in diagnosis and surgical planning. Intraoperative frozen section may assist in diagnosis and tissue triage. ª 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
Case report A previously healthy 4-month-old boy presented with 1 month of scrotal mass and discoloration. History and review
of systems were otherwise normal. Exam revealed a firm, painless nodule on the lateral scrotal wall (Fig. 1). The testis was palpable and apparently uninvolved. Ultrasound revealed a 1.2-cm, circumscribed, solid nodule on the
* Corresponding author. Tel.: þ1 502 629 7900; fax: þ1 502 629 7906. E-mail address: [email protected] (R.C. Reed). 1477-5131/$36 ª 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.jpurol.2010.11.006
496
R.C. Reed, A. Casale
Discussion
Figure 1 Appearance of scrotal tumor. The tumor presented as an area of bluish discoloration that formed a small palpable nodule in the left hemiscrotum.
inferior scrotum, separate from the testicle, which appeared normal. At surgery, the spermatic cord and testis were normal. The mass was associated with the dartos muscle, without involvement of other scrotal structures. Frozen section unexpectedly showed a small round blue cell neoplasm, prompting a wide resection and scrotoplasty including the overlying discolored scrotal skin. Pathologic examination revealed nests of small round blue cells in a neuropil-like background, with numerous mitoses and karyorrhectic figures. Rare cells had ganglionic differentiation (Fig. 2A,B). Immunohistochemical stains were positive for NSE (neuron-specific enolase) and PGP9.5 (proteinegene product 9.5). The final diagnosis was neuroblastoma, poorly differentiated. MYCN was amplified, indicating unfavorable histology. Imaging revealed stage 4 neuroblastoma, with a 5.7-cm suprarenal mass (Fig. 3A) and hepatic (Fig. 3B) and thoracic metastases. The patient has undergone chemotherapy and surgery, and will receive tandem autologous stem cell transplants.
Figure 2
Neuroblastoma is a primitive malignancy arising from sympathetic neuroendocrine tissues, most commonly the adrenal medulla. Presentation usually reflects mass effect from the primary tumor (abdominal mass, spinal cord compression) or metastases (hepatomegaly, cutaneous metastases). Occasionally, neuroblastoma presents with paraneoplastic syndromes such as opsoclonus-myoclonus or diarrhea due to vasoactive intestinal peptide secretion [1]. Management and prognosis depend on the patient’s age, tumor histology, MYCN amplification, and stage. Treatment ranges from simple excision to stem-cell-supported chemotherapy. Favorable histology and/or low-stage neuroblastomas have an excellent prognosis (3-year eventfree survival 96%) [2]. Higher stage, unfavorable histology tumors, treated with stem-cell-supported chemotherapy, have a 3-year event-free survival of 63% [3].This patient falls into the latter category. Neuroblastoma presenting as a scrotal mass is rare. In one series, only 11 of 1076 boys with neuroblastoma presented with paratesticular or testicular involvement. Testicular or paratesticular metastases indicate stage 4 disease, but can be consistent with stage 4S [4]. Primary paratesticular neuroblastoma is an even rarer entity with a good prognosis. In the reported cases, simple excision was curative [5]. Scrotal and paratesticular malignancies are rare in children. Differential diagnosis includes rhabdomyosarcoma, desmoplastic round cell tumor, lymphoma, melanotic neuroectodermal tumor and metastases [6]. Immunohistochemistry and cytogenetics are important in distinguishing these. Intraoperative frozen section was helpful to the patient and surgeon. Many pediatric malignancies require fresh tissue for clinical trial enrollment. In this case, fresh tissue could be triaged for additional studies, sparing the patient a second biopsy. Intraoperative management of unexpected findings requires flexibility on the part of the urologist. In this case, after obtaining consent intraoperatively, a wider excision was performed, ensuring negative resection margins. Primary and metastatic neuroblastoma can present in the scrotum, and should be considered in an infant with scrotal mass, especially with evidence of systemic disease such as hepatomegaly or skin lesions. Scrotal and abdominal ultrasound may be helpful in diagnosis and surgical planning.
Histology of scrotal tumor. Hematoxylin and eosin stain, final magnification 100 (A) and 400 (B).
Metastatic neuroblastoma presenting as a scrotal mass in an infant
497
Figure 3 Abdominal CT imaging following diagnosis of neuroblastoma in scrotal mass. White arrows indicate large retroperitoneal mass (A) and multiple hepatic metastases (B).
Conflict of interest statement The authors have no relationships that could inappropriately influence their work.
Funding None.
References [1] Lack EE. In: Tumors of the adrenal gland and extraadrenal paraganglia. 1st ed. Washington DC: American Registry of Pathology; 2007.
[2] Baker DL, Schmidt ML, Cohn SL, Maris JM, London WB, Buxton A, et al. Outcome after reduced chemotherapy for intermediaterisk neuroblastoma. N Engl J Med 2010;363:1313e23. [3] Marcus KJ, Shamberger R, Litman H, von Allmen D, Grupp SA, Nancarrow CM, et al. Primary tumor control in patients with stage 3/4 unfavorable neuroblastoma treated with tandem double autologous stem cell transplants. J Pediatr Hematol Oncol 2003;25:934e40. [4] Simon T, Hero B, Berthold F. Testicular and paratesticular involvement by metastatic neuroblastoma. Cancer 2000;88:2636e41. [5] Hua X, Mao-Sheng X, Hong-Quan G, Fang C. Primary paratesticular neuroblastoma: a case report and review of literature. J Pediatr Surg 2008;43:E5e7. [6] Ali TZ, Parwani AV. Benign and malignant neoplasms of the testis and paratesticular tissue. In: Parwani AV, Goldblum JR, editors. Current concepts in genitourinary pathology: kidney and testes. Philadelphia: WB Saunders Company; 2009. p. 61e159.
CASE REPORT
Metastatic neuroblastoma presenting as a scrotal mass in an infant Robyn C. Reed a,*, Anthony Casale b a b
Department of Pathology, Kosair Children’s Hospital, 2nd Floor, 231 East Chestnut Street, Louisville, KY 40202, USA Department of Urology, Kosair Children’s Hospital, 2nd Floor, 231 East Chestnut Street, Louisville, KY 40202, USA
Received 14 September 2010; accepted 15 November 2010 Available online 5 January 2011
KEYWORDS Neuroblastoma; Scrotal mass; Metastases; Paratesticular tumor; Infants
Abstract Objective: Neuroblastoma is a common malignancy of infancy and childhood. The scrotum and paratesticular tissues are rare sites of presentation. We report the case of an infant who presented with a scrotal mass that proved to be a metastatic neuroblastoma. Patient and results: A previously healthy 4-month-old boy presented with a scrotal mass. Ultrasound and surgery showed a well circumscribed, 1.2-cm nodule in the inferior scrotum, associated with dartos fascia. Intraoperative frozen section revealed a small round blue cell tumor, prompting a wider excision. Final diagnosis was poorly differentiated neuroblastoma with unfavorable histology. Further imaging revealed a large adrenal mass, with hepatic and pleural metastases. Conclusion: Metastatic and primary neuroblastomas are rare causes of scrotal mass in infants and children. Treatment and prognosis depend on factors including patient age, histology and stage. Stem-cell-supported chemotherapy is the current treatment of choice for high-stage, high-risk neuroblastoma, as in this case. The differential diagnosis of pediatric scrotal neoplasms is broad, and several small round blue cell tumors can present in the scrotum and paratesticular tissues. Preoperative ultrasound of the scrotum and abdomen may assist in diagnosis and surgical planning. Intraoperative frozen section may assist in diagnosis and tissue triage. ª 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
Case report A previously healthy 4-month-old boy presented with 1 month of scrotal mass and discoloration. History and review
of systems were otherwise normal. Exam revealed a firm, painless nodule on the lateral scrotal wall (Fig. 1). The testis was palpable and apparently uninvolved. Ultrasound revealed a 1.2-cm, circumscribed, solid nodule on the
* Corresponding author. Tel.: þ1 502 629 7900; fax: þ1 502 629 7906. E-mail address: [email protected] (R.C. Reed). 1477-5131/$36 ª 2010 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.jpurol.2010.11.006
496
R.C. Reed, A. Casale
Discussion
Figure 1 Appearance of scrotal tumor. The tumor presented as an area of bluish discoloration that formed a small palpable nodule in the left hemiscrotum.
inferior scrotum, separate from the testicle, which appeared normal. At surgery, the spermatic cord and testis were normal. The mass was associated with the dartos muscle, without involvement of other scrotal structures. Frozen section unexpectedly showed a small round blue cell neoplasm, prompting a wide resection and scrotoplasty including the overlying discolored scrotal skin. Pathologic examination revealed nests of small round blue cells in a neuropil-like background, with numerous mitoses and karyorrhectic figures. Rare cells had ganglionic differentiation (Fig. 2A,B). Immunohistochemical stains were positive for NSE (neuron-specific enolase) and PGP9.5 (proteinegene product 9.5). The final diagnosis was neuroblastoma, poorly differentiated. MYCN was amplified, indicating unfavorable histology. Imaging revealed stage 4 neuroblastoma, with a 5.7-cm suprarenal mass (Fig. 3A) and hepatic (Fig. 3B) and thoracic metastases. The patient has undergone chemotherapy and surgery, and will receive tandem autologous stem cell transplants.
Figure 2
Neuroblastoma is a primitive malignancy arising from sympathetic neuroendocrine tissues, most commonly the adrenal medulla. Presentation usually reflects mass effect from the primary tumor (abdominal mass, spinal cord compression) or metastases (hepatomegaly, cutaneous metastases). Occasionally, neuroblastoma presents with paraneoplastic syndromes such as opsoclonus-myoclonus or diarrhea due to vasoactive intestinal peptide secretion [1]. Management and prognosis depend on the patient’s age, tumor histology, MYCN amplification, and stage. Treatment ranges from simple excision to stem-cell-supported chemotherapy. Favorable histology and/or low-stage neuroblastomas have an excellent prognosis (3-year eventfree survival 96%) [2]. Higher stage, unfavorable histology tumors, treated with stem-cell-supported chemotherapy, have a 3-year event-free survival of 63% [3].This patient falls into the latter category. Neuroblastoma presenting as a scrotal mass is rare. In one series, only 11 of 1076 boys with neuroblastoma presented with paratesticular or testicular involvement. Testicular or paratesticular metastases indicate stage 4 disease, but can be consistent with stage 4S [4]. Primary paratesticular neuroblastoma is an even rarer entity with a good prognosis. In the reported cases, simple excision was curative [5]. Scrotal and paratesticular malignancies are rare in children. Differential diagnosis includes rhabdomyosarcoma, desmoplastic round cell tumor, lymphoma, melanotic neuroectodermal tumor and metastases [6]. Immunohistochemistry and cytogenetics are important in distinguishing these. Intraoperative frozen section was helpful to the patient and surgeon. Many pediatric malignancies require fresh tissue for clinical trial enrollment. In this case, fresh tissue could be triaged for additional studies, sparing the patient a second biopsy. Intraoperative management of unexpected findings requires flexibility on the part of the urologist. In this case, after obtaining consent intraoperatively, a wider excision was performed, ensuring negative resection margins. Primary and metastatic neuroblastoma can present in the scrotum, and should be considered in an infant with scrotal mass, especially with evidence of systemic disease such as hepatomegaly or skin lesions. Scrotal and abdominal ultrasound may be helpful in diagnosis and surgical planning.
Histology of scrotal tumor. Hematoxylin and eosin stain, final magnification 100 (A) and 400 (B).
Metastatic neuroblastoma presenting as a scrotal mass in an infant
497
Figure 3 Abdominal CT imaging following diagnosis of neuroblastoma in scrotal mass. White arrows indicate large retroperitoneal mass (A) and multiple hepatic metastases (B).
Conflict of interest statement The authors have no relationships that could inappropriately influence their work.
Funding None.
References [1] Lack EE. In: Tumors of the adrenal gland and extraadrenal paraganglia. 1st ed. Washington DC: American Registry of Pathology; 2007.
[2] Baker DL, Schmidt ML, Cohn SL, Maris JM, London WB, Buxton A, et al. Outcome after reduced chemotherapy for intermediaterisk neuroblastoma. N Engl J Med 2010;363:1313e23. [3] Marcus KJ, Shamberger R, Litman H, von Allmen D, Grupp SA, Nancarrow CM, et al. Primary tumor control in patients with stage 3/4 unfavorable neuroblastoma treated with tandem double autologous stem cell transplants. J Pediatr Hematol Oncol 2003;25:934e40. [4] Simon T, Hero B, Berthold F. Testicular and paratesticular involvement by metastatic neuroblastoma. Cancer 2000;88:2636e41. [5] Hua X, Mao-Sheng X, Hong-Quan G, Fang C. Primary paratesticular neuroblastoma: a case report and review of literature. J Pediatr Surg 2008;43:E5e7. [6] Ali TZ, Parwani AV. Benign and malignant neoplasms of the testis and paratesticular tissue. In: Parwani AV, Goldblum JR, editors. Current concepts in genitourinary pathology: kidney and testes. Philadelphia: WB Saunders Company; 2009. p. 61e159.