{"title":"2. A Dual Diagnosis: The Rare Connection Between Pelvic Tuberculosis and Yolk Sac Tumor","authors":"Kendall Bielak , Ellen Myers , Vasiliki Anemikos , Vrunda Patel","doi":"10.1016/j.jpag.2025.01.035","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>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.</div></div><div><h3>Case</h3><div>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.</div></div><div><h3>Comments</h3><div>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.</div></div>","PeriodicalId":16708,"journal":{"name":"Journal of pediatric and adolescent gynecology","volume":"38 2","pages":"Page 230"},"PeriodicalIF":1.7000,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of pediatric and adolescent gynecology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1083318825000555","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
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.
期刊介绍:
Journal of Pediatric and Adolescent Gynecology includes all aspects of clinical and basic science research in pediatric and adolescent gynecology. The Journal draws on expertise from a variety of disciplines including pediatrics, obstetrics and gynecology, reproduction and gynecology, reproductive and pediatric endocrinology, genetics, and molecular biology.
The Journal of Pediatric and Adolescent Gynecology features original studies, review articles, book and literature reviews, letters to the editor, and communications in brief. It is an essential resource for the libraries of OB/GYN specialists, as well as pediatricians and primary care physicians.