Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dube syndrome
Lymphoplasmacytic lymphoma in a patient with Birt-Hogg-Dube syndrome
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Birt-Hogg-Dube 综合征患者的淋巴浆细胞淋巴瘤
DOI：
10.1007/s12185-020-02970-2
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发表时间：
2020
期刊：
影响因子：
2.1
通讯作者：
Minami H
中科院分区：
文献类型：
--
作者：
Kurata K;Matsumoto H;Jimbo N;Yakushijin K;Yamamoto K;Ito M;Nakamachi Y;Matsuoka H;Saegusa J;Seyama K;Itoh T;Minami H
Birt-Hogg-Dubé（BHD）综合征是一种常染色体显性遗传疾病，以良性皮肤错构瘤、肺囊肿导致自发性气胸和肾癌风险增加为特征。BHD综合征是由卵泡素（FLCN）基因（一种假定的肿瘤抑制因子）的种系突变引起的，其导致卵泡素蛋白功能丧失并可能导致癌症易感性。在一名45岁的女性患者中，有贫血、淋巴结病和复发性自发性气胸病史，18F-FDG PET/CT检测到骨髓、脾脏肿大和全身多发性肿大淋巴结中弥漫性和轻微18F-FDG蓄积。遗传学检查证实FLCN基因第9外显子存在一个种系无义突变[c.998C > G（p.Ser333*）]。根据免疫组织化学和mRNA原位杂交，肿瘤淋巴细胞的CD 20、CD 138和轻链κ呈阳性，并鉴定出aMYD 88基因突变[c.755T > C（p.L252P）]。因此，她被诊断为淋巴浆细胞性淋巴瘤伴BHD综合征。据我们所知，这是第一份报告描述了血液恶性肿瘤的发展与BHD综合征患者。FLCN突变可能作为与MYD 88突变协同作用的额外突变参与淋巴瘤的发生。
Birt–Hogg–Dubé (BHD) syndrome is an autosomal dominant disease characterized by benign skin hamartomas, pulmonary cysts leading to spontaneous pneumothorax, and an increased risk of renal cancer. BHD syndrome is caused by germline mutations in the folliculin (FLCN) gene, a putative tumor suppressor, which result in loss of function of the folliculin protein and may cause cancer predisposition. In a 45-year-old woman with anemia, lymphadenopathy, and a history of recurrent spontaneous pneumothorax,18F-FDG PET/CT detected diffuse and slight18F-FDG accumulation in the bone marrow, enlarged spleen, and systemic multiple enlarged lymph nodes. Genetic examination identified a germline nonsense mutation [c.998C > G (p.Ser333*)] on exon 9 ofFLCN.Pathological examination of the lymph node revealed a diffuse neoplastic proliferation of plasmacytoid lymphocytes. The neoplastic lymphoid cells were positive for CD20, CD138, and light chain kappa as per immunohistochemistry and mRNA in situ hybridization, and aMYD88gene mutation [c.755T > C (p.L252P)] was identified. Accordingly, she was diagnosed with lymphoplasmacytic lymphoma concomitant with BHD syndrome. To the best of our knowledge, this is the first report describing the development of hematological malignancy in a patient with BHD syndrome. TheFLCNmutation might contribute lymphomagenesis as an additional mutation cooperating with theMYD88mutation.