Department of Pathology, Northwestern University Feinberg School of Medicine, 303 E Chicago Ave, Chicago, IL, 60611, USA.
Department of Pathology, Northwestern University Feinberg School of Medicine, 303 E Chicago Ave, Chicago, IL, 60611, USA.
Pathol Res Pract. 2020 Nov;216(11):153210. doi: 10.1016/j.prp.2020.153210. Epub 2020 Sep 11.
Primary mediastinal germ cell tumors with somatic malignancies are rare. We report a case of a 34-year old man with melanoma arising in a primary mediastinal mixed germ cell tumor. On initial biopsy, the patient was found to have a germ cell tumor containing yolk sac and embryonal components only. After chemotherapy, histopathological evaluation of the residual tumor in the wide local resection specimen revealed a mature teratoma with melanoma. Molecular studies demonstrated that the residual germ cell tumor harbored KIT and NRAS mutations associated with malignant melanoma.
原发性纵隔生殖细胞肿瘤伴体细胞恶性肿瘤较为罕见。我们报告了 1 例 34 岁男性，其原发性纵隔混合生殖细胞肿瘤中发生黑色素瘤。初次活检时，患者的生殖细胞瘤仅包含卵黄囊和胚胎成分。化疗后，广泛局部切除标本中残留肿瘤的组织病理学评估显示为成熟畸胎瘤伴黑色素瘤。分子研究表明，残留的生殖细胞瘤存在与恶性黑色素瘤相关的 KIT 和 NRAS 突变。
