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Abstract：
Diagnosis and treatment of multiple primary malignancies are becoming a new challenge in clinical practice worldwide. The present study aimed to characterize the clinical and genetic features of multiple primary malignancies in patients with synchronous or metachronous lymphoma and another solid tumor. We retrospectively analyzed 11 cases with lymphoma and another solid tumor. The germline mutations in plasma cell-free DNA samples and somatic mutations in lymphoma and solid tumor tissue samples were identified using targeted next-generation sequencing. In the 11 lymphoma patients, the most common type of concurrent solid tumor was colon adenocarcinoma (case 3, 5, 9 11) followed by papillary thyroid carcinoma (case 1, 7, 10). Metachronous lymphoma and solid tumor in 6 patients were treated with corresponding standard therapy asynchronously. Chemotherapy for colon adenocarcinoma during the interval of lymphoma chemotherapy led to excellent outcome in two patients. Immediate chemotherapy for lymphoma plus elective surgery for synchronous papillary thyroid carcinoma also yielded good prognosis in two patients with synchronous double primaries. Interestingly, we found that 10 of 11 patients with lymphoma and another solid tumor harbored germline mutations in Fanconi anemia complementation group (FANC) genes, including FANCI, FANCA, FANCG, FANCL, FANCD1, FANCF, FANCJ, and FANCS. In summary, comprehensive study of the clinical and genetic features of patients with multiple primary malignancies may improve diagnosis and treatment in the future. Mutations in FANC genes might be a predisposition to tumorigenesis of lymphoma patients with a second solid malignancy.
摘要：
多原发恶性肿瘤的诊断和治疗正在成为全球临床实践中的新挑战。本研究旨在表征同步或异时性淋巴瘤和另一种实体瘤患者的多原发恶性肿瘤的临床和遗传特征。我们回顾性分析了11例淋巴瘤和另一例实体瘤。使用靶向下一代测序鉴定无浆细胞DNA样品中的种系突变和淋巴瘤和实体瘤组织样品中的体细胞突变。在11名淋巴瘤患者中，最常见的并发实体瘤类型是结肠腺癌(病例3,5,911),其次是甲状腺乳头状癌(病例1,7,10).6例异时性淋巴瘤和实体瘤患者接受相应的标准治疗。在淋巴瘤化疗期间，结肠腺癌的化疗导致两名患者的良好预后。淋巴瘤的即时化疗加同步甲状腺乳头状癌的选择性手术也在两名同步双原发性患者中产生了良好的预后。有趣的是,我们发现11例淋巴瘤和另一种实体瘤患者中有10例具有范可尼贫血互补组（FANC）基因的种系突变，包括FANCI，FANCA，FANCG,FANCL,FANCD1、FANCF、FANCJ,和FANCS。总之,综合研究多原发恶性肿瘤患者的临床和遗传特征可提高诊断和治疗水平。FANC基因的突变可能是具有第二实体恶性肿瘤的淋巴瘤患者的肿瘤发生的易感性。
