From the Guidelines
The best next step in evaluation for this 17-year-old boy with a breast mass is testicular ultrasound (option E). This patient presents with gynecomastia and has a markedly elevated β-hCG level (10,750 IU/L), which strongly suggests a testicular germ cell tumor, most likely choriocarcinoma or mixed germ cell tumor with choriocarcinoma elements, as supported by the latest guidelines from the National Comprehensive Cancer Network 1. Despite the absence of a palpable testicular mass on physical examination, many testicular tumors can be small yet still produce significant amounts of hormones. The elevated β-hCG is causing increased estradiol production (120 pg/mL, well above normal), which explains the gynecomastia.
Key Considerations
- Testicular ultrasound is a non-invasive imaging modality that can detect small testicular masses not appreciable on physical examination, as recommended by the European Society for Medical Oncology (ESMO) and the European Association of Urology (EAU) 1.
- Early detection of testicular cancer is crucial as it is highly treatable when identified early.
- Other options like breast ultrasound or biopsy would not address the underlying cause, and reassurance would be inappropriate given the concerning laboratory findings.
- Androgen receptor mutation analysis and karyotype testing are not indicated as the clinical picture and laboratory values point directly toward a hormone-secreting testicular tumor.
Rationale for Testicular Ultrasound
- The patient's symptoms and laboratory results are consistent with a testicular germ cell tumor, which can produce β-hCG and cause gynecomastia.
- Testicular ultrasound is a sensitive and specific imaging modality for detecting testicular masses, including small tumors that may not be palpable on physical examination 1.
- The latest guidelines from the National Comprehensive Cancer Network recommend testicular ultrasound as part of the initial evaluation for suspected testicular cancer 1.
From the Research
Evaluation of the Patient
The patient presents with a breast mass, pain beneath the right nipple, and enlargement of the right breast. Laboratory results show elevated β-hCG levels, which is a marker for choriocarcinoma, a type of testicular germ cell tumor 2, 3, 4, 5.
Key Findings
- Elevated β-hCG levels (10,750 IU/L) suggest the presence of choriocarcinoma 2, 3, 4, 5
- The patient has no chronic medical conditions, takes no medications, and has an unremarkable family history
- Physical examination reveals a prominent right breast with a palpable and tender mound deep to the right nipple, but no axillary or cervical lymphadenopathy
Next Steps
Given the elevated β-hCG levels and the presence of a breast mass, the best next step in evaluation would be to investigate the possibility of a testicular germ cell tumor, specifically choriocarcinoma.
- The patient should undergo a testicular ultrasound to check for any masses or abnormalities in the testes 2, 3, 4, 5
- Other options, such as breast ultrasound and biopsy, androgen receptor mutation analysis, karyotype testing, and reassurance, are not directly relevant to the evaluation of choriocarcinoma in this context.
Rationale
The elevated β-hCG levels and the presence of a breast mass suggest the possibility of choriocarcinoma, which is a type of testicular germ cell tumor. Testicular ultrasound is a crucial diagnostic tool in this case, as it can help identify any masses or abnormalities in the testes that may be causing the elevated β-hCG levels 2, 3, 4, 5.
Considerations
It is essential to note that choriocarcinoma is an aggressive subtype of testicular germ cell tumor with a poor prognosis if left untreated 5. Early aggressive treatment is necessary to improve the chance of survival. The patient's symptoms and laboratory results should be carefully evaluated, and a comprehensive treatment plan should be developed to address the potential diagnosis of choriocarcinoma.