Supplementary Material for: SMARCA4/SMARCA2 deficient undifferentiated metastatic malignant tumor with carcinoma of unknown primary case report

SMARCA4/SMARCA2 deficiencies have been linked to a variety of neoplasms and have been mainly described in cases of thoracic non-small cell lung cancers. Here we present a case of SMARCA4/SMARCA2 deficient undifferentiated metastatic malignant tumor with carcinoma of unknown primary origin. The staining on pathology as well as the unremarkable size of the lung masses raises the possibility of dedifferentiated tumor from unknown primary. This case highlights the need for more routine testing of this mutation as well as the development of more targeted therapies as these mutations are often associated with an aggressive course and poor outcomes.

SMARCA4/SMARCA2缺陷已与多种肿瘤相关，且相关报道主要集中于胸部非小细胞肺癌病例。本文报告1例SMARCA4/SMARCA2缺陷型未分化转移性恶性肿瘤，合并原发灶不明癌。病理染色结果及肺部肿块体积无明显异常，提示该肿瘤可能为起源不明的去分化肿瘤。本病例凸显了对该突变开展更多常规检测的必要性，同时也亟需开发更多靶向治疗手段——鉴于这类突变往往与侵袭性病程及不良预后密切相关。