Department of Respiratory Medicine, Jichi Medical University, Shimotsuke, Japan.
Department of Clinical Oncology, Tokyo Medical University Ibaraki Medical Center, Ibaraki, 300-0395, Japan.
BMC Pulm Med. 2020 Apr 16;20(1):93. doi: 10.1186/s12890-020-1133-y.
Kartagener syndrome, an autosomal recessive disorder with a triad of chronic sinusitis, bronchiectasis, and situs inversus, is characterized by recurrent respiratory tract infections and chronic inflammation of the lung. Information on comorbidities other than infections in patients with Kartagener syndrome is currently limited.
A 39-year-old, non-smoking female was diagnosed with Kartagener syndrome and admitted to Saitama Medical Center, Jichi Medical University, Japan. Computed tomography revealed an endobronchial massive shadow at the ostial site of the right upper lobe bronchus with atelectasis of the right upper lobe. The mass was surgically resected and pathologically diagnosed as mucoepidermoid carcinoma. The lesion had no vascular invasions and no metastases to the lungs or lymph nodes. The surgical margin was negative for carcinoma. Following surgery, the patient has been in good condition.
The present case showed different clinicopathological characteristics from those previously reported in cases of Kartagener syndrome complicated by carcinoma. To the best of our knowledge, this is the first reported case of a young, non-smoking female with comorbid Kartagener syndrome and pulmonary mucoepidermoid carcinoma. This case report may provide a new perspective on the complications of Kartagener syndrome.
卡塔格内综合征是一种常染色体隐性遗传病，三联征为慢性鼻窦炎、支气管扩张和内脏转位，其特征为反复发生呼吸道感染和肺部慢性炎症。目前，关于卡塔格内综合征患者除感染以外的合并症的信息有限。
一名 39 岁、不吸烟的女性被诊断为卡塔格内综合征，并入住日本顺天堂大学埼玉医疗中心。计算机断层扫描显示右上叶支气管口有支气管内大肿块，伴有右上叶肺不张。肿块被手术切除，病理诊断为黏液表皮样癌。病变无血管侵犯，无肺内或淋巴结转移。手术切缘无癌。手术后，患者状况良好。
本病例表现出与之前报道的卡塔格内综合征合并癌的病例不同的临床病理特征。据我们所知，这是首例报告的年轻、不吸烟的女性合并卡塔格内综合征和肺黏液表皮样癌的病例。本病例报告可能为卡塔格内综合征的并发症提供了一个新视角。
