PMC6445222_01
The karyotype of the patient. Chromosomal analysis of blood showed 46, XY karyotype.
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Chromosome analysis revealed 46, XY karyotype (Figure 1), and she had an artificial menstrual cycle for 2 years.
Intraoperative findings at secondary laparoscopic exploration surgery.. Notes: (A) A 3-cm diameter bleeding tumor nodule was observed on the anterior abdominal wall; (B) multiple grayish white tumor nodules on the liver surface.
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Intraoperative findings included the following: 1,500 mL bloody ascitic fluid, multiple gray solid tumor nodules on the omentum majus and liver surface, and an approximately 3 cm bleeding nodule on the anterior abdominal wall (Figure 2A and B).
Pathology revealed that the metastatic tumor of the liver surface was SMs (sarcoma) derived from YST.. Notes: (A) Variably sized tumor cells with severe nuclear atypia and edematous stroma with multifocal hemorrhage (H&E, 100x); (B) scattered pleomorphic tumor giant cells (H&E, 400x); (C) focal positivity for AE1/AE3 immunostaining in tumor cells; AE1/AE3 immunostaining was positive in YSTs and some sarcomatous tumors (IHC staining, 200x); (D, E) immunonegativity for GPC3 and SALL4 in tumor cells; (F) Ki-67-positive expression found in approximately 10% of tumor cells (IHC staining, 400x).. Abbreviations: IHC, immunohistochemistry; SMs, somatic-type malignancies; YST, yolk sac tumor.
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The stroma was edematous with multifocal hemorrhage (Figure 3A and B). IHC staining showed that tumor cells were focally positive for AE1/AE3 (Figure 3C), but negative for GPC3 and Sal-like protein 4 (SALL4) (Figure 3D and E), and the Ki-67 labeling index was approximately 10% (Figure 3F).
Pathology revealed that the vaginal tumor was SMs (sarcoma) derived from YST.. Notes: (A) Fusiform tumor cells with moderate to severe nuclear atypia (H&E, 400x); (B-D) immunonegativity for AE1/AE3, GPC3, and SALL4 in tumor cells (IHC staining, 400x).. Abbreviations: IHC, immunohistochemistry; SMs, somatic-type malignancies; YST, yolk sac tumor.
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Histopathological analysis of the vaginal tumor revealed the same pattern (Figure 4A). IHC staining showed that tumor cells were negative for AE1/AE3, GPC3, and SALL4 (Figure 4B-D).
Histology revealed pure gonadal dysgenesis in the right gonad.. Notes: (A) The gonad is entirely composed of fibrous tissue and devoid of germ cells (H&E, 200x); (B) immunonegativity for OCT3/4 confirming the absence of germ cells (IHC staining, 200x).. Abbreviation: IHC, immunohistochemistry.
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Histopathological analysis from the right gonad sections revealed fibrous tissue with no germ cells, which indicated PGD (Figure 5A), and IHC staining was negative for octamer-binding transcription factor 3/4 (OCT3/4) (Figure 5B).