Turner syndrome is a congenital condition affecting 1 in every 2500 female live births. This condition is characterized by complete or partial loss of the X chromosome. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual presentation of a case of Turner syndrome – a 31-year-old Filipino with male phenotype mosaic Turner syndrome, with 46,X,+mar[46]/45,X[4] chromosome, presenting with ambiguous genitalia and a pelvoabdominal mass. The patient underwent exploratory laparotomy, peritoneal fluid cytology, adhesiolysis, tumor debulking (gonadectomy) appendectomy, omentectomy, identification and inspection of bilateral ureters and bladder, gonioscopy and biopsy of the urogenital cavity (bladder vs. vagina). Histopathology revealed a mixed gonadal tumor, consisting of 70% yolk sac tumor, and 30% dysgerminoma. The patient eventually succumbed to postoperative complications. Postmortem fluorescence-in situ hybridization revealed a 46,X,+mar[46]/45,X,[4].ish der (Y) (DYZ3+), a marker of chromosome Y origin, consistent with a mosaic type Turner syndrome, associated with increased risk for gonadal malignancy.
Dysgerminoma ; mixed germ cell tumor ; mosaicism ; yolk sac tumor

Yolk sac tumors are rare malignant germ cell neoplasms that usually arise from the gonads. Extragonadal yolk sac tumors (EGYSTs) frequently occur in the mediastinum in post-pubertal females. EGYSTs in the pelvis are extremely rare, and to date, only thirteen cases have been reported in the English literature. Among them, the primary EGYST of the pelvic peritoneum in post-pubertal females has only been reported in ten cases. The present case describes a 26-year-old female diagnosed with primary peritoneal yolk sac tumor located in the rectouterine pouch. We report clinical and tumor imaging features, including ultrasound, computed tomography (CT), magnetic resonance images (MRI), positron emission tomography-computed tomography (PET-CT), and present a review of the literature.
Adult ; Douglas' Pouch ; Electrons ; Endodermal Sinus Tumor ; Female ; Gonads ; Humans ; Magnetic Resonance Imaging ; Mediastinum ; Neoplasms, Germ Cell and Embryonal ; Pelvis ; Peritoneum ; Ultrasonography ; Yolk Sac

Ovarian cancer is the second most common gynecologic cancer worldwide and the six most common cancer among females. Germ cell tumorbs are the most common ovarian neoplasm in the first two decades of life constituting approximately two-thirds of all ovarian tumors. Malignant germ cell tumors constitute one-third of germ cell origin tutors and two-thirds of all ovarian malignancy in this age-group. This paper presents a case of a 19 year-old nulligravid who presented at the emergency room with abdominal pain, and was intraoperatively diagnosed with yolk sac tutor of the right ovary, stage 1A mature cystic teratoma of the left ovary. She subsequently underwent unilateral salpingooophorectomy and contralateral oophorocystectomy, left. Patient is advised chemotherapy postoperatively, with Bleomycin, Etoposide and Paclitaxel. This paper discusses the incidence, risk factors, prognosis and management of yolk of sac tutor in a young nulligravid.

Extra-ovarian yolk sac tumor arising in the omentum is extremely rare. As yolk sac tumor originated from the omentum has been rarely reported, its clinical information is very limited. The authors encountered a case of yolk sac tumor originated from the omentum, and reported the case herein. A 32-year-old woman was presented with developed low abdominal distension for a month. Magnetic resonance imaging findings were suggestive of ovarian malignancy with ascites and peritoneal seeding nodules. Explorative laparotomy was performed and then the findings from frozen biopsy of omentum were suggestive of poorly differentiated tumor though whether it was primary or metastatic was uncertain. Thus, staging laparotomy were performed. Histopathology confirmed that the tumor was a yolk sac tumor of omentum origin. Then, 6 cycles of postoperative adjuvant chemotherapy at intervals of 3 weeks were performed using bleomycin, etoposide, and cisplatin regimen. Four-year outpatient follow-up thereafter showed no relapse.
Adult ; Ascites ; Biopsy ; Bleomycin ; Chemotherapy, Adjuvant ; Cisplatin ; Endodermal Sinus Tumor* ; Etoposide ; Female ; Follow-Up Studies ; Humans ; Laparotomy ; Magnetic Resonance Imaging ; Omentum* ; Outpatients ; Rare Diseases ; Yolk Sac

We report herein a case of gastric undifferentiated carcinoma with focal yolk sac tumor and hepatoid carcinoma differentiation. A 57-year-old man was referred after a gastroscopy for anemia evaluation. Gastroscopy revealed an approximately 3 cm ulcerofungating mass occupying the greater curvature of stomach body. Biopsy results revealed a poorly differentiated adenocarcinoma. Left gastric lymph node was enlarged, but there were no evidence of distant metastasis on the abdominal CT. He underwent a radical subtotal gastrectomy and gastroduodenostomy with dissection of the enlarged lymph nodes. Postsurgical histological examination revealed an undifferentiated carcinoma with focal yolk sac tumor and hepatoid carcinoma differentiation. Immunohistochemical staining revealed that the tumor cells were focal positive for AFP, anti-hepatocyte antibody.
Adenocarcinoma ; Anemia ; Biopsy ; Carcinoma ; Endodermal Sinus Tumor ; Gastrectomy ; Gastroscopy ; Lymph Nodes ; Neoplasm Metastasis ; Stomach ; Yolk Sac

OBJECTIVE: The aim of this study was to evaluate the oncologic and reproductive outcomes of patients with ovarian yolk sac tumor after bleomycin, etoposide, cisplatin (BEP) chemotherapy following surgery. METHODS: Of 145 patients with histologically confirmed malignant ovarian germ cell tumor, 43 had yolk sac tumor and received BEP chemotherapy after surgery. A retrospective analysis of these patients was performed. RESULTS: The mean age of 43 patients was 24.8 years (range, 7 to 59 years). Thirty eight patients were nulliparous. Of 179 BEP chemotherapy cycles, grade 1~2 hematologic and non-hematologic adverse events occurred in 46 cycles in 21 patients. Thirty nine patients showed complete remission, 1 patient showed partial remission, and 3 patient had progressive disease during BEP chemotherapy. After median follow-up time of 57 months (range, 3 to 153 months), 5 patients had recurrent disease and three of them died of disease. The 5-year recurrence free survival rate and overall survival rate were 86% and 94%, respectively. After chemotherapy, all but one premenarchal patients had normal menstruation. Of them 5 patients tried to conceive and 3 of them succeeded in pregnancy. CONCLUSION: BEP chemotherapy was very safe and effective in patients with ovarian yolk sac tumor. Survival outcomes are excellent and reproductive outcomes are promising after BEP chemotherapy.
Bleomycin ; Cisplatin ; Drug Therapy, Combination ; Endodermal Sinus Tumor ; Etoposide ; Female ; Follow-Up Studies ; Humans ; Menstruation ; Neoplasms, Germ Cell and Embryonal ; Pregnancy ; Recurrence ; Retrospective Studies ; Survival Rate ; Yolk Sac

Ovarian endometrioid adenocarcinoma (EAC) with a yolk sac tumor (YST) component is extremely rare. Only twelve cases have been reported in the English literature. We report here two additional cases of this rare tumor. The YST component showed classic microscopic features, and immunohistochemically stained positive for alpha-fetoprotein (AFP), but negative for cytokeratin 7 (CK7), epithelial membrane antigen (EMA), estrogen receptor (ER) and progesterone receptor (PR). The EAC appeared to blend into the YST in several areas and immunohistochemically stained positive for CK7, EMA, ER, and PR, but negative for AFP.
alpha-Fetoproteins ; Aminocaproic Acids ; Carcinoma, Endometrioid ; Endodermal Sinus Tumor ; Estrogens ; Female ; Keratin-7 ; Mucin-1 ; Ovary ; Receptors, Progesterone ; Yolk Sac

Gastric yolk sac tumors are extremely rare with only a few cases reported in the literature. Here, we present the case of a 50-year-old man with an adenocarcinoma and a yolk sac tumor of the stomach, without metastasis to the lymph nodes. The tumor was an early gastric carcinoma confined to the submucosa. Twelve months post-operation the patient was alive with no complications. The yolk sac tumor showed positive labeling for alpha-fetoprotein (AFP), alpha1-antitrypsin (alpha1-AT), cytokeratin (CK) and carcinoembryonic antigen (CEA), but was negative for human chorionic gonadotrophin (hCG), placental alkaline phosphatase (PLAP), epithelial membrane antigen (EMA) and p53. The adenocarcinoma was positive for alpha1-AT, CK, EMA, and CEA, but was negative for AFP, hCG, PLAP, and p53. These findings suggest that the yolk sac tumor and the adenocarcinoma components are closely related and may represent distinct phenotypes that arise from a common mucosal epithelial cell.
Adenocarcinoma* ; Alkaline Phosphatase ; alpha-Fetoproteins ; Carcinoembryonic Antigen ; Chorion ; Endodermal Sinus Tumor* ; Epithelial Cells ; Humans ; Immunohistochemistry ; Keratins ; Lymph Nodes ; Middle Aged ; Mucin-1 ; Neoplasm Metastasis ; Phenotype ; Stomach* ; Yolk Sac*

PURPOSE: To report a case of primary yolk sac tumor of the orbit. METHODS: A 15-month-old girl was referred for evaluation of ptosis and strabismus in the right eye which had developed over the previous two weeks. On examination, ptosis, exotropia, proptosis, and restriction of extraocular muscle movement of the right eye were noted. A computed tomography (CT) scan of the orbit showed a 2.4 cm x 3.4 cm-sized soft tissue mass in the posterior aspect of the right orbit which enveloped the optic nerve and invaded the maxillary sinus, posterior ethmoid sinus, nasal cavity, and intracranial space. Endoscopic biopsy of the nasal cavity mass was performed. RESULTS: Histologic evaluation revealed solid proliferation of germ cells with large, clear cytoplasm and intracellular, extracellular hyaline globules. Immunohistochemical staining for alpha-fetoprotein was positive. Results of further systemic evaluation were all negative. The tumor regressed after combined chemotherapy and radiotherapy. The patient has been disease free for 2 years. CONCLUSIONS: The possibility of yolk sac tumor should be considered in the differential diagnosis in a younger patient for an orbital mass with rapidly increasing size and adjacent bony destruction. Prompt diagnosis and appropriate therapeutic approaches are essential.
alpha-Fetoproteins ; Biopsy ; Cytoplasm ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Endodermal Sinus Tumor* ; Ethmoid Sinus ; Exophthalmos ; Exotropia ; Female ; Germ Cells ; Humans ; Hyalin ; Infant ; Maxillary Sinus ; Nasal Cavity ; Optic Nerve ; Orbit* ; Radiotherapy ; Strabismus ; Yolk Sac*

A 35-year-old woman, previously treated for systemic metastases from retroperitoneal yolk sac tumor, presented with progressive painful paraparesis. Preoperative images showed severe cord compression by the metastatic infiltration of the lumbar vertebrae and epidural mass as well as a huge retroperitoneal mass. While performing unremarkable surgery in prone position, the patient abruptly fell into hypoxic insults and circulatory arrest. Intraoperative pulmonary tumor embolism was deemed a cause of death. When planning operative procedure for this dangerous malignancy, scrupulous manipulation is mandated and the possibility of fatal pulmonary tumor embolism should also be addressed and fully discussed preoperatively.
Adult* ; Cause of Death ; Endodermal Sinus Tumor* ; Female ; Humans ; Lumbar Vertebrae ; Neoplasm Metastasis ; Neoplastic Cells, Circulating* ; Paraparesis ; Prone Position ; Spinal Cord Compression* ; Spinal Cord* ; Surgical Procedures, Operative ; Yolk Sac*