(2) A Dual Diagnosis: The Rare Connection Between Pelvic Tuberculosis and Yolk Sac Tumor

Background: We present a case of intra-abdominal tuberculosis and ovarian yolk sac tumor in an adolescent. It highlights the challenges of overlapping genetic, infectious, and autoimmune factors in adolescents and the importance of multidisciplinary care in patients with rare diagnoses and balancing treatment with long-term quality of life.

Case: A 17-year-old female presented to the emergency room with a one-week history of abdominal distension; imaging demonstrated a 4 cm cystic pelvic mass with carcinomatosis and large volume ascites. Tumor markers showed a normal alpha-fetoprotein (AFP) of < 0.8, borderline lactate dehydrogenase (LDH) of 292, and an elevated CA-125 of 400. The histopathology from diagnostic laparoscopy of the omentum, peritoneum, and ovaries showed necrotizing granulomatous inflammation without malignancy. The patient received a rheumatologic, infectious, and genetic workup; positive Acid-Fast Bacilli cultures confirmed mycobacterial tuberculosis infection. She completed rifampin, isoniazid, pyrazinamide, ethambutol therapy 6 months later. Somatic genetic testing revealed a Nucleotide Binding Oligomerization Domain 2 (NOD2) mutation, which may have contributed to granulomatous disease, although the clinical significance was uncertain. One year later, she presented with abdominal pain; imaging revealed a 12 cm pelvic mass with retroperitoneal lymphadenopathy. Tumor markers were elevated with AFP > 1150 and LDH 801, suggesting a malignant process. She experienced acute worsening pain, and CT confirmed spontaneous rupture of the mass. She underwent exploratory laparotomy, unilateral salpingoophorectomy, and omentectomy with gynecology oncology. Pathology revealed a FIGO Stage IIB yolk sac tumor involving the left ovary with abundant necrosis. Omentum, peritoneum, and additional biopsies showed reactive changes without tumor involvement. She initiated chemotherapy with Bleomycin, Carboplatin, and Etoposide, and underwent three cycles without complications. At follow-up with pediatric gynecology, she showed no evidence of premature ovarian insufficiency and started on Slynd for menstrual management and contraception.

Comments: This case highlights the complexities adolescents face when undergoing treatment for rare disease processes and genetic mutations of uncertain clinical significance. NOD2 may play a role in carcinogenesis as a tumor suppressor and is linked to mycobacterial infections. This case highlights the importance of ongoing research of rare disease presentations and genetic variants as well as the importance of multidisciplinary care in adolescents with rare diagnoses at risk for decreased ovarian function.