4.3 Article

Postoperative recurrence of mixed extragonadal germ cell tumor in the right shoulder: a case report

Journal

DIAGNOSTIC PATHOLOGY
Volume 18, Issue 1, Pages -

Publisher

BMC
DOI: 10.1186/s13000-023-01312-0

Keywords

Germ cell tumor; Extragonadal; Yolk sac tumor; Immature teratomas

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This report presents a rare case of primary mixed extragonadal germ cell tumor in the shoulder. The patient underwent surgery and chemotherapy, and showed no signs of recurrence during follow-up. The importance of further research on this rare disease to develop effective treatment strategies is emphasized.
BackgroundExtragonadal germ cell tumours (EGGCTs) originated in Shoulder are extremely rare, with 1 case described in the literature. We report a case of a patient with a primary Right Shoulder mixed EGGCT.Case presentationA 36-year-old male patient was hospitalized for 6 months due to progressive right shoulder swelling accompanied by pain. Subsequently, the right shoulder tumor was removed entirely. Gross pathological examination showed that the size of the tumor mass was about 14 x 10 x 6 cm.Mutations were observed in ENPEP (4q25), ZCCHC11, RREB1 (6p24.3), CKAP4 (12q23.3), and other genes were detected by whole exome sequencing. Histology revealed a mixed EGGCT of the Right Shoulder with immature teratoma and yolk sac tumour. The patient went through 6 cycles of chemotherapy. After 7 months of follow-up, the patient is recurrence.ConclusionThe primary MEGCT of the shoulder is an extremely rare condition. However, the recurrence and metastasis rates are high. Therefore, further research is necessary to determine this rare disease's genetic and clinical characteristics to develop an effective treatment plan.

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