Fu Xiaoyan, Jiang Qiao, Mo Wenbin, Zhang Jinjing, Li Yan, Miao Yuan, Zhang Rui
Department of Hematology, The First Affiliated Hospital of China Medical University, Shenyang, 110001, China.
Department of Pathology, The College of Basic Medical Sciences and The First Affiliated Hospital of China Medical University, Shenyang, 110001, China.
Ann Hematol. 2025 May 6. doi: 10.1007/s00277-025-06322-0.
Although thymoma is a rare malignancy, it is usually accompanied by secondary cancers. Non-Hodgkin's B-cell lymphoma is one of the most common secondary neoplasms observed in patients with thymoma, presenting before, concurrently with, or after the diagnosis. However, the underlying molecular mechanism of concomitant thymoma and lymphoma remains unclear. This study aimed to report a case with concurrent extrathymic, diffuse large B-cell lymphoma (DLBCL), and thymoma. Published studies and the SEER database were queried to summarize the features of patients with these concomitant cancers. Whole-exome sequencing (WES) was performed on tumor specimens and buccal swab mucosa. Six germline mutations and several specific somatic alterations were found on each neoplastic tissue, which may elucidate the potential pathogenesis of concurrent cancers. This study was novel in reporting concurrent extrathymic DLBCL and thymoma by applying WES on matched neoplasm-normal samples to explore the pathogenesis of these distinct neoplasms.
胸腺瘤虽是一种罕见的恶性肿瘤，但通常会伴有继发性癌症。非霍奇金B细胞淋巴瘤是胸腺瘤患者中最常见的继发性肿瘤之一，可在胸腺瘤诊断之前、同时或之后出现。然而，胸腺瘤与淋巴瘤并发的潜在分子机制仍不清楚。本研究旨在报告一例同时患有胸腺外弥漫性大B细胞淋巴瘤（DLBCL）和胸腺瘤的病例。通过查询已发表的研究和SEER数据库来总结这些并发癌症患者的特征。对肿瘤标本和颊拭子黏膜进行了全外显子测序（WES）。在每个肿瘤组织上发现了六个种系突变和一些特定的体细胞改变，这可能有助于阐明并发癌症的潜在发病机制。本研究的新颖之处在于，通过对匹配的肿瘤-正常样本应用WES来探索这些不同肿瘤的发病机制，报告了同时发生的胸腺外DLBCL和胸腺瘤。
