Lymphangioleiomyomatosis as a potent lung cancer risk factor: Insights from a Japanese large cohort study

被引:4
作者
Torasawa, Masahiro [1 ]
Shukuya, Takehito [1 ]
Uemura, Kohei [2 ]
Hayashi, Takuo [3 ]
Ueno, Toshihide [4 ]
Kohsaka, Shinji [4 ]
Masui, Yoshihiro [1 ]
Shirai, Yukina [1 ]
Okura, Makiko [1 ]
Asao, Tetsuhiko [1 ]
Mitsuishi, Yoichiro [1 ]
Shimada, Naoko [1 ]
Takahashi, Fumiyuki [1 ]
Takamochi, Kazuya [5 ]
Suzuki, Kenji [5 ]
Takahashi, Kazuhisa [1 ]
Seyama, Kuniaki [1 ]
机构
[1] Juntendo Univ, Grad Sch Med, Dept Resp Med, Tokyo, Japan
[2] Univ Tokyo, Dept Biostat & Bioinformat, Interfac Initiat Informat Studies, Tokyo, Japan
[3] Juntendo Univ, Sch Med, Dept Human Pathol, Tokyo, Japan
[4] Natl Canc Ctr, Div Cellular Signaling, Tokyo, Japan
[5] Juntendo Univ Hosp, Dept Gen Thorac Surg, Tokyo, Japan
关键词
lung cancer; lymphangioleiomyomatosis; rare lung diseases; TSC1; TSC2; tumour suppressor gene; TUBEROUS SCLEROSIS COMPLEX; MANAGEMENT; DIAGNOSIS; GENE; HETEROZYGOSITY; ADENOCARCINOMA; GUIDELINES; MUTATIONS; CARCINOMA; DISEASE;
D O I
10.1111/resp.14724
中图分类号
R56 [呼吸系及胸部疾病];
学科分类号
摘要
Background and ObjectiveLymphangioleiomyomatosis (LAM) is a rare neoplastic disease associated with the functional tumour suppressor genes TSC1 and TSC2 and causes structural destruction in the lungs, which could potentially increase the risk of lung cancer. However, this relationship remains unclear because of the rarity of the disease. MethodsWe investigated the relative risk of developing lung cancer among patients diagnosed with LAM between 2001 and 2022 at a single high-volume centre in Japan, using data from the Japanese Cancer Registry as the reference population. Next-generation sequencing (NGS) was performed in cases where tumour samples were available. ResultsAmong 642 patients diagnosed with LAM (sporadic LAM, n = 557; tuberous sclerosis complex-LAM, n = 80; unclassified, n = 5), 13 (2.2%) were diagnosed with lung cancer during a median follow-up period of 5.13 years. All patients were female, 61.5% were never smokers, and the median age at lung cancer diagnosis was 53 years. Eight patients developed lung cancer after LAM diagnosis. The estimated incidence of lung cancer was 301.4 cases per 100,000 person-years, and the standardized incidence ratio was 13.6 (95% confidence interval, 6.2-21.0; p = 0.0008). Actionable genetic alterations were identified in 38.5% of the patients (EGFR: 3, ALK: 1 and ERBB2: 1). No findings suggested loss of TSC gene function in the two patients analysed by NGS. ConclusionOur study revealed that patients diagnosed with LAM had a significantly increased risk of lung cancer. Further research is warranted to clarify the carcinogenesis of lung cancer in patients with LAM. image ConclusionOur study revealed that patients diagnosed with LAM had a significantly increased risk of lung cancer. Further research is warranted to clarify the carcinogenesis of lung cancer in patients with LAM. image
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页码:815 / 824
页数:10
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