A 24-Year-Old Man With Down Syndrome and Shortness of Breath

Dieu-Thu Nguyen-Khoa, MD; Mona Sabeti, MD; Anh H. Au, MD


September 30, 2014

Treatment for both seminomas and nonseminomas is stage-dependent. Standard treatment for most nonseminomas is orchiectomy, potentially followed by chemotherapy with bleomycin, etoposide, and cisplatin. Retroperitoneal lymph node dissection is also a consideration in selected patients. Nonseminomas vary in prognosis, depending on the stage and the tumor marker levels at diagnosis; 56%-61% of nonseminomas have a good prognosis, with a five-year survival rate of 92%-94%. Even nonseminomas considered to have a poor prognosis, which account for 16%-26% of tumors, have a five-year survival rate of 71%.

Seminomas are initially treated with orchiectomy. Additional treatment with chemotherapy, radiation, or active surveillance is guided by stage and prognostic features at the time of diagnosis. Seminomas have an overall better prognosis when stage-matched with nonseminomas. Patients with seminomas are never categorized as having poor prognoses. Seminomas that are diagnosed in the early stages have an almost 100% cure rate, and seminomas of any stage have a cure rate of more than 90%.[2,3,4]

Most tumors recur within the first two years after treatment. Close interval follow-up with serum markers and imaging studies is recommended. The follow-up interval varies, depending on whether the tumor was seminoma or nonseminoma.[6] Some cases of later relapse are reported; lifelong periodic physical, radiologic, and laboratory examinations for these patients is reasonable.[3]

After this patient was admitted to the hospital for further evaluation, he underwent orchiectomy of his left testicle. Histopathology demonstrated a stage III nonseminomatous testicular cancer, specifically a mixed germ cell tumor consisting of embryonal carcinoma and yolk sac tumor. There was extensive necrosis and lymphovascular invasion of cancer within the left testicle. CT of the abdomen showed significant retroperitoneal lymphadenopathy that was probably causing his back pain.

The patient was treated with multiple cycles of bleomycin, etoposide, and cisplatin chemotherapy. After treatment, a repeat chest radiograph (Figure 4) and CT (not available) demonstrated near-complete resolution of his lung metastases and no residual retroperitoneal lymphadenopathy.

At the follow-up examination, the patient's serum tumor markers were noted to have improved, with an AFP of 6 ng/mL (normal range, 0-20 ng/mL), a beta-hCG < 2 mIU/mL (normal range, < 5 mIU/mL), and an LDH of 151 U/L (normal range, 98-192 U/L).


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