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

Ultrasonography of the testicles is the diagnostic modality of choice and can characterize the lesion and specifically identify the presence of a mass. If the clinical course, history, and symptoms (eg, acute onset, sexual history, fever, chills, nausea) are suggestive of orchitis, a trial of antibiotics (such as ceftriaxone and azithromycin, which are focused on sexually transmitted diseases, for patients aged < 35 years, or fluoroquinolone, which is focused on enteric organisms, for patients aged ≥ 35 years) can be attempted, with a plan for close follow-up to assess for resolution of symptoms or the need for additional work-up. Testicular masses that are suspicious for cancer need to be further evaluated with testicular ultrasonography and measurement of serum tumor markers (beta-hCG, LDH, AFP), which will be elevated in the setting of testicular cancer.

If ultrasonography and tumor markers suggest cancer, then orchiectomy is indicated, with subsequent histopathologic evaluation. Cases that are ambiguous or cannot otherwise be resolved by ultrasonography may require MRI for further evaluation. CT of the chest, abdomen, and pelvis is also recommended (especially if dyspnea or back pain is present) to investigate for metastases and for staging of the disease.

Serum tumor markers are helpful because they can also disclose cancers that are too small to detect on the physical examination. Serum tumor markers are essential not only for diagnosis but also for prognosis and assessment of disease response to chemotherapy. High levels of serum tumor markers indicate an increased likelihood for metastatic disease and a poor prognosis. These tumor marker levels should decrease with therapy; failure to do so usually indicates a resistance to therapy. Similarly, a resurgence of these markers can signify relapse of cancer after cessation of treatment.[3,4]

Testicular cancers are almost always germ cell tumors. Other types of cancers, such as lymphoma, Leydig cell carcinoma, and Sertoli cell carcinoma, are very rare.

Germ cell tumors are further categorized into seminomas and nonseminomas. Germ cell tumors that consist of only seminomas are called "pure seminomas"; nonseminomas consist of embryonal carcinomas, yolk sac tumors (also called "endodermal sinus tumors"), choriocarcinomas, and teratomas. Mixed germ cell tumors can contain any combination of nonseminomas and seminomas; however, if a tumor has a portion of any of the nonseminomatous cell lines in it, it is considered a nonseminoma because the nonseminomatous component most accurately reflects the response to treatment and overall prognosis.

Different tumor markers are associated with different types of testicular cancers. High serum AFP levels are not usually seen in pure seminomas. Serum beta-hCG can be elevated in both seminomas and nonseminomas. Tumors with seminoma in the histopathology and an elevated AFP should be treated as nonseminomas.[3]

The prognosis of most testicular cancers is excellent, even when metastatic disease is present. The para-aortic lymph nodes are the initial site of metastasis. Patients with CT scans that are negative for lymphadenopathy have a 25%-30% chance of having microscopic involvement of the lymph nodes. Nonseminomatous germ cell tumors are more likely than seminomas to spread hematogenously; the most common sites of hematogenous spread are the lungs, liver, and brain, as well as the para-aortic lymph nodes. Teratomas are the most benign form of nonseminoma, and they are the least likely to metastasize. Choriocarcinomas, which are the least differentiated, are most likely to metastasize. All other nonseminomas have an intermediate likelihood for metastasis.[2,3,5]


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