Laboratory investigation
- All patients: Serum AFP (correlate to age-related reference levels) to
exclude malignant secreting yolk sac tumor [Level I, Grade A].
- Adolescents: Serum ß-HCG and total HCG to exclude secreting GCTs
[Level I, Grade A].
- Serum inhibin, estrogen, testosterone, DHEAS, FSH and LH in cases of
endocrinological symptoms such as precocious puberty or gynecomastia
[Level I, Grade B].
- Routine genetic testing for cancer predisposition in all patients is
not recommended. However, based on family and individual history and
exam, genetic testing of individual patients can be considered in the
evaluation for tumor predisposition. In large cell calcifying Sertoli
tumors, Peutz-Jeghers syndrome should be excluded. Single cases of
pediatric testicular stromal tumors have been described in children
with germline DICER1 pathogenic variation (one Sertoli and one Leydig
cell tumor) (L. Golmard et al, in press) [Level V, Grade B].