Testicular cancer in Down syndrome with spinal cord metastases.

A 22-year-old male patient with Down syndrome was referred to our hospital with a vast left testicular mass. He underwent a left radical inguinal orchiectomy, and a histopathological examination of the mass showed a yolk sac tumor invading the epididymis. The patient was discharged in a satisfactory condition. Sixteen days later, the patient presented again complaining of lower limb weakness. Magnetic resonance imaging of the spine showed metastatic lesions compressing the dorsal spine, and he underwent emergency surgical decompression. The histopathology of the metastatic lesions revealed a yolk sac subtype which was identical to his primary testicular tumor.

INTRODUCTION

Down syndrome is the most common chromosomal abnormality and is caused by chromosome 21 trisomy. The abnormalities comprise certain dysmorphic features, intellectual disability, and congenital malformations, including cardiovascular malformations.[1]

Some malignancies, mostly leukemia, are also associated with Down syndrome. Testicular, brain, and hepatocellular tumors have been reported less frequently.[2]

Testicular cancer is one of the most common malignancies in young men, with seminomas comprising more than 50% of cases. The most common presentation is a painless testicular mass. Vertebral metastases from testicular tumors are rare.[3] The most common sites for metastases are the lung (89%), liver (73%), brain (31%), and bone (30%).[4]

A case of Down syndrome with testicular cancer and spinal metastases is presented here.

CASE REPORT

A 22-year-old male patient with Down syndrome was referred to our center with a vast left scrotal mass that had progressively increased in size over a period of 8 months. On physical examination, a large painless left testicular mass measuring about 15 cm × 12 cm was found.

The preoperative levels of tumor markers were 1456 ng/mL of alpha-fetoprotein (AFP), 99.89 IU/L of beta-human chorionic gonadotropin (B-HCG), and 230 U/L of lactate dehydrogenase.

A chest X-ray [Figure 1] and chest computed chromatography with intravenous contrast showed multiple lung nodules of variable size in both lungs [Figures 1 and 2].

Figure 1

Chest X-ray which showed multiple lung nodules

Figure 2

Computed tomography chest which showed multiple lung nodules of variable size in both lung

Abdominal and pelvic computed tomography identified multiple inguinal and para-aortic lymph nodes [Figure 3], and magnetic resonance imaging (MRI) revealed a left testicular mass, suspected to be a mixed germ cell tumor [Figure 4].

Figure 3

Computed tomography abdomen and pelvis

Figure 4

Dorsal spine magnetic resonance imaging which showed soft tissue metastases compressing the dorsal spine at the level of D9–D12

The patient underwent a left radical inguinal orchiectomy, and the histopathological report showed a unifocal yolk sac tumor measuring 17.5 cm × 14 cm invading the epididymis. No spermatic cord, tunica albuginea, or lymphovascular invasions were seen. The neoplastic cells were positive for AFP and CD117, and negative for B-HCG, placental alkaline phosphatase, neuro-specific enolase, and CD30.

The postoperative period was uneventful.

Sixteen days later, the patient presented at the emergency room with weakness in both lower limbs that had begun 2 days previously, decreased oral intake, and nausea.

On physical examination, the patient was conscious but dehydrated. Neurological examination revealed a loss of sensory and motor functions of both lower limbs. A dorsal spine MRI was performed and showed soft tissue metastases compressing the dorsal spine at the level of D9–D12. Decompression surgery was performed (D9–D12 decompression), and an epidural biopsy was taken. The morphological features of the biopsy tissue favored a yolk sac tumor, establishing the diagnosis of metastases from the primary testicular tumor.

The patient was moved to the oncology department for chemotherapy, where he received two cycles of etoposide with granulocyte colony-stimulating factor, with a 20% reduction in dose for the last cycle.

DISCUSSION

Down syndrome is the most common chromosomal abnormality in humans, with an estimated incidence of 1/1000 newborns. In the early 1900s, it was associated with high mortality, but now nearly 80% of patients live up to the age of 50 years or beyond.[5]

An association exists between Down syndrome and some malignancies, such as lymphomas, testicular cancer, retinoblastomas, and pancreatic, hepatocellular, and brain tumors.[26]

Testicular cancer is common among young men between the ages of 15 and 40 years. The incidence is increasing in various countries while its mortality is decreasing through advanced medical care.[7]

The mean age at diagnosis for testicular cancer in patients with Down syndrome is around the early thirties. The etiology of this association is not yet clear, but many theories have been proposed. Cryptorchidism, which is a known risk factor for testicular cancer, is more frequent among Down syndrome patients, and increased levels of gonadotropin are another possibility.[8]

Testicular cancer can present with distant metastases to many organs, commonly the lungs, liver, brain, and bone.[4] However, vertebral metastases from testicular cancer are rare.[9]

MRI is the instrument of choice for the diagnosis of vertebral metastases, the management of which requires a multidisciplinary approach. Patients usually need decompression surgery and stabilization to preserve the neurological function but, even with treatment, the neurological deficits persist. Another option is radiotherapy, which can be given postoperatively as an adjuvant treatment, or as a first-line treatment in the absence of any acute neurological deficits.[10]

CONCLUSION

Testicular cancer can be associated with Down syndrome, and such patients might present with spinal cord compression from bone metastases. Does testicular cancer in Down syndrome patients exhibit aggressive behavior and metastasize early? Do these patients have a higher incidence of vertebral metastases with spinal cord compression? Further data are needed to answer these questions.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.