Abstract
BACKGROUND: Ovarian mucinous tumor has been a common epithelial tumor originated from female reproductive system, and a few of the tumors might be accompanied by mural nodules including sarcomatoid nodules, sarcoma, and anaplastic carcinoma. In much rarer cases, the epithelial tumors of female genital tract coexist with germ cell tumors, for instance yolk sac tumor (YST). Up to date, only seven cases of ovarian mucinous tumors associated with YST component have been reported. In the study, we present a rare case of ovarian mucinous tumor with both anaplastic region and YST component, and reviewed all the eight cases to highlight current understanding of the pathological diagnosis and clinical features of the disease. CASE DESCRIPTION: A 62-year-old women admitted to the hospital due to intermittent lower abdominal pain accompanied by gradually increasing abdominal distension for over two years, imaging analysis revealed a pelvic mass with the maximum diameter nearly as 20 cm. Further, postoperative pathological examination of the mass revealed three distinct regions, including cystic areas, solid areas, and certain microcystic reticular areas. Immunohistochemical (IHC) experiment showed different results among these areas which supported the final pathological diagnosis as anaplastic ovarian mucinous carcinoma with YST differentiation. The patient went through 6 periods of chemotherapy, however, the tumor recurred 62 days post-operation, currently, the recurred mass has again filled the abdominal cavity (3 months post operation). The patient is currently still alive, but her condition is extremely poor. CONCLUSIONS: We presented a rare case of ovarian mucinous carcinoma with anaplastic region and YST differentiation. The case and seven other cases retrieved from literature revealed that its current diagnosis primarily rely on pathological morphological characteristics together with IHC experiment. Gene mutations were identified in some of the cases, for instance CDKN2A and CDKN2B genes deletion, as well as KRAS and TP53 genes mutation. This tumor is highly aggressive, 75.0% (6/8) of the cases recurred or dead within one year of diagnosis.