背景:起源于肩的性腺外生殖细胞肿瘤(EGGCT)极为罕见,文献中描述了1例。我们报告了一例原发性右肩混合EGGCT患者。
方法:一名36岁男性患者因进行性右肩肿胀伴疼痛住院6个月。随后,右肩肿瘤被完全切除。大体病理检查显示肿瘤大小约为14×10×6cm。在ENPEP(4q25)中观察到突变,ZCCHC11,RREB1(6p24.3),CKAP4(12q23.3),和其他基因通过全外显子组测序检测。组织学显示右肩混合EGGCT,未成熟畸胎瘤和卵黄囊瘤。患者经历了6个周期的化疗。经过7个月的随访,患者复发。
结论:肩关节原发性MEGCT是一种极为罕见的疾病。然而,复发率和转移率高。因此,进一步的研究是必要的,以确定这种罕见疾病的遗传和临床特征,以制定有效的治疗方案。
BACKGROUND: Extragonadal 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.
METHODS: A 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 × 10 × 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.
CONCLUSIONS: The 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.