eMedicine Specialties > Pediatrics: Surgery > Urology
Prepubertal Testicular and Paratesticular Tumors
Updated: Nov 1, 2007
Introduction
Background
Testicular tumors account for 2% of all pediatric tumors, with an incidence of 0.05-2 per 100,000 children. A bimodal age distribution is observed; one peak occurs in the first 2 years of life, and the second occurs in young adulthood.
Pediatric prepubertal testicular tumors are dramatically different from adult neoplasms. Germ-cell tumors account for only 60-77% of testicular tumors in children but account for 95% of testicular tumors in adults. Adult germ-cell tumors with malignant potential, such as seminoma and embryonal carcinoma, are not present in prepubertal patients. Teratomas, which are uniformly benign in children, are often malignant in adults.
The most common germ-cell tumors are teratomas and yolk-sac tumors, which account for about 65% of testis tumors. Some series report that teratomas, which most believe are vastly underreported because of their benign nature, may account for almost 50% of prepubertal testicular tumors. However, in tumor registries yolk-sac tumors are more common than teratomas, which may reflect a reporting bias.1,2 Gonadal stromal tumors are significantly less frequent than germ-cell tumors (ie, tumors of non–germ-cell origin) and primarily include juvenile granulosa-cell tumors, Leydig-cell tumors, and Sertoli-cell tumors.
The vast majority of yolk-sac tumors in children (85%) present as clinical stage I disease, compared with 35% in adults. Alpha-fetoprotein (AFP) can be used as a reliable marker because levels are increased in more than 90% of yolk-sac tumors and because the yolk sac is extremely sensitive to chemotherapy. Therefore, patients can be safely managed with observation after orchiectomy followed by chemotherapy for recurrent tumors. Retroperitoneal lymph node dissection is limited to those children with persistent retroperitoneal lymphadenopathy or increased serum tumor markers after orchiectomy and chemotherapy.
Prepubertal teratomas account for 30% of testicular germ-cell tumors in children and are uniformly benign. Although 80-90% of adult teratomas are found to contain carcinoma in situ elsewhere in that testis, this is not true in prepubertal boys with teratoma. Histology is often pure with diploid DNA content containing all 3 embryological germ layers (ectoderm, mesoderm, and endoderm). Testis-sparing surgery with frozen section is a reasonable consideration for this and other benign prepubertal tumors. No follow-up is recommended for prepubertal teratomas, whereas postpubertal patients should be followed as adults.
Epidermoid cysts are benign tumors of epithelial origin. They are often firm and well-defined, with a central hypoechoic region or mixed internal echogenicity surrounded by an echogenic rim on ultrasonography. These tumors are benign and, following tumor enucleation, do not require follow-up.
Seminomas and mixed germ-cell tumors are extremely rare in prepubertal children. Most believe that seminomas should be managed as in adults and mixed germ cell tumors should be treated based on the most malignant subtype.
Sertoli-cell tumors are the most common gonadal stromal tumors in prepubertal children. These tumors tend to appear as painless masses in boys younger than 6 months and produce no endocrinologic effects; however, 14% of patients present with gynecomastia. All reported lesions in children less than 5 years of age have been benign. Therefore, children younger than 5 are adequately treated with orchiectomy and do not require metastatic evaluation. Older children should undergo chest radiography and abdominal CT scanning to rule out metastases. Metastases are treated with a combination of radiotherapy, chemotherapy, and retroperitoneal lymph node dissection. Large-cell calcifying Sertoli-cell tumor is a variant with large amounts of cytoplasm and calcification. One-third of patients with this tumor have associated genetic abnormalities; however, these tumors are universally benign.
Leydig-cell tumors are the second most common gonadal stromal tumors in children and are also benign. These tumors most often occur in boys aged 5-10 years, and the synthesis of testosterone may produce precocious puberty, gynecomastia, and elevated levels of 17-ketosteroids. Leydig-cell tumors must be differentiated from hyperplastic nodules that develop in boys with poorly controlled congenital adrenal hyperplasia (CAH).
Juvenile granulosa-cell tumors account for 27% of all neonatal testicular tumors and commonly appear as cystic, painless testicular masses. They almost exclusively appear in the first year of life and most appear by age 6 months. They can be associated with anomalies of the Y chromosome, mosaicism, and ambiguous genitalia. These tumors are hormonally inactive and benign.
Gonadoblastoma occurs in association with disorders of sexual development (intersex). About 80% of cases involve phenotypic females with intra-abdominal testes or streak gonads. The putative gonadoblastoma gene is on the Y chromosome, and the tumor almost always develops in a child with a Y chromosome. The streak gonads in patients with mixed gonadal dysgenesis often develop gonadoblastomas. The incidence peaks at puberty, and early gonadectomy is recommended in patients at risk for gonadoblastoma. Metastatic spread of a gonadoblastoma occurs in 10% of patients. These tumors may elevate serum levels of beta-human chorionic gonadotropin (beta-HCG).
Cystic dysplasia of the testis is a benign lesion that is often associated with ipsilateral renal agenesis or dysplasia. This association, along with a characteristic ultrasonographic appearance (ie, hypoechoic lesions), permits preoperative diagnosis and possible treatment with testicular-sparing surgery.
Leukemia and lymphoma are the most common malignancies to affect the testis secondarily and account for 2-5% of all testis tumors; most present bilaterally. Because the blood-testis barrier may protect the intratesticular cells, the testis may be the site of residual tumor in children after therapy.
Paratesticular structures can give rise to various benign (lipoma, leiomyoma, hemangioma, or fibroma) and malignant tumors; however, these are extremely rare. Rhabdomyosarcoma is the most common malignant tumor (17%) and may arise from the distal spermatic cord and appear as a scrotal mass or hydrocele. These tumors have a bimodal distribution and occur in boys aged 3-4 months and in teenagers. As many as 70% of patients have involvement of the retroperitoneal lymph nodes at presentation. These tumors are highly aggressive and spread via the blood, lymphatics, or direct extension to the lungs, the cortical bone, or to the bone marrow in 20% of patients at the time of diagnosis. Radical inguinal orchiectomy followed by retroperitoneal lymph node dissection is recommended for all children older than 10 years, and in those younger than 10 years with retroperitoneal disease. Those with positive lymph nodes are treated with multimodal therapy (chemotherapy and radiation).
Pathophysiology
The testes are the affected organs.
Frequency
United States
Testicular tumors account for approximately 1-2% of all pediatric solid tumors. The incidence is 0.05-2 per 100,000 children. Although benign tumors are more common in prepubertal patients than in postpubertal patients, yolk-sac tumors have been more commonly reported in some series and tumor registries. The true incidence of benign tumors, such as teratomas, may be less than what is reported because of reporting bias.
International
The worldwide incidence is similar to that of the United States.
Mortality/Morbidity
One death occurs per every 10 million cases per year.
Race
The frequency in African-Americans and Asians may be less than that in whites although worldwide data is not available.
Sex
Testicular tumors occur in boys and men.
Age
The incidence of pediatric testicular tumors peaks in children aged 2-4 years. Most yolk-sac tumors occur in children younger than 2 years.
Clinical
History
- About 85% of children with testicular tumors present with painless scrotal swelling. A few present with a hydrocele, scrotal pain, or a history of trauma, any of which probably alerts the child to the presence of a painless and enlarged testicle.
- A hard mass may be palpable on physical examination. However, normal physical findings are not sufficient to exclude a tumor.
- About 10-25% of patients with malignant tumors present with a hydrocele.
Physical
Physical examination usually reveals a painless scrotal swelling with a hard mass or associated hydrocele. Some hormonally active tumors may appear in association with precocious puberty or gynecomastia.
Causes
The cause is unknown. An association with prenatal exposure to diethylstilbestrol (DES) has been postulated but not demonstrated.
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References
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Further Reading
Keywords
prepubertal testicular tumor, paratesticular tumor, cancer, neoplasms, yolk sac tumor, yolk-sac tumor teratoma, teratocarcinoma, seminoma, gonadal stromal tumor, juvenile granulosa cell tumor, juvenile granulosa-cell tumor, Leydig cell tumor, Leydig-cell tumor, Sertoli cell tumor, Sertoli-cell tumor, pediatric prepubertal testicular tumor, germ-cell tumor, embryonal carcinoma, teratoma, testis tumor, gynecomastia, congenital adrenal hyperplasia, gonadoblastoma, leukemia, lymphoma, rhabdomyosarcoma
