Kolekar Shailesh, Gudmundsdottir Kristrun, Olsen Karen Ege, Sivapalan Pradeesh, Clementsen Paul Frost, Bodtger Uffe
Department of Internal Medicine, Zealand University Hospital, Roskilde, Denmark.
Department of Clinical Medicine, University of Copenhagen, Denmark.
Respir Med Case Rep. 2021 Nov 10;34:101556. doi: 10.1016/j.rmcr.2021.101556. eCollection 2021.
Pulmonary blastoma is an aggressive lung cancer with incidence ranging from 0.25-0.5 of all the reported lung cancers. Although, pulmonary blastoma is seen commonly in childhood its very rare in adults. Surgical treatment is often the treatment of choice, but benefits of neoadjuvant chemotherapy are unclear. People with DICER1 syndrome commonly develop Pulmonary blastoma and do have concomitant or previous history of benign or malignant tumours in extra pulmonary site like kidney, thyroid, ovary cervix testicle and eye. As per our knowledge, this is the first case of adult pulmonary blastoma previously diagnosed with urothelial cancer and a strong familial predilection of malignancy, with negative genetic test for DICER1 mutations.
肺母细胞瘤是一种侵袭性肺癌，在所有报告的肺癌中发病率为0.25 - 0.5。虽然肺母细胞瘤常见于儿童，但在成人中非常罕见。手术治疗通常是首选治疗方法，但新辅助化疗的益处尚不清楚。患有DICER1综合征的人通常会发生肺母细胞瘤，并且在肺外部位如肾脏、甲状腺、卵巢、子宫颈、睾丸和眼睛有良性或恶性肿瘤的伴随或既往病史。据我们所知，这是首例先前诊断为尿路上皮癌且有强烈恶性肿瘤家族倾向的成人肺母细胞瘤病例，DICER1突变基因检测为阴性。
