Okuno Yumiko, Hori Mai, Hattori-Kato Mami, Fukuhara Hiroshi, Nomiya Akira, Mikami Koji, Takeuchi Takumi
Department of Urology, Japan Organization of Occupational Health and Safety, Kanto Rosai Hospital, Kawasaki, JPN.
Department of Urology, Kyorin University Faculty of Medicine, Tokyo, JPN.
Cureus. 2023 Aug 23;15(8):e43981. doi: 10.7759/cureus.43981. eCollection 2023 Aug.
Background Granulocyte colony-stimulating factor (G-CSF) is a member of the CSF family of glycoproteins that regulate the proliferation, differentiation, and mobilization of neutrophils. G-CSF-producing malignant cancers have been reported to occur in various organs and are mostly associated with poor clinical prognosis. Here, we analyzed the structure of the gene encoding the G-CSF protein to delineate the mechanism of G-CSF production by the cancer cells. Methodology Two cases of G-CSF-producing urothelial cancers and three cases of G-CSF-nonproducing bladder cancers were enrolled for genetic analysis. Results In one case of G-CSF-producing bladder cancer, six somatic mutations were detected in the 5'- upstream region of the gene. No somatic mutations in the gene were detected in another case of G-CSF-producing renal pelvic cancer and G-CSF-nonproducing bladder cancers. Copy numbers of the gene were not increased in G-CSF-producing urothelial cancers. Conclusions Somatic mutations in the 5'- upstream region of the gene may cause G-CSF protein overproduction.
背景 粒细胞集落刺激因子（G-CSF）是调节中性粒细胞增殖、分化和动员的糖蛋白集落刺激因子（CSF）家族的成员。据报道，产生G-CSF的恶性肿瘤发生于各种器官，且大多与不良临床预后相关。在此，我们分析了编码G-CSF蛋白的基因结构，以阐明癌细胞产生G-CSF的机制。方法 纳入2例产生G-CSF的尿路上皮癌和3例不产生G-CSF的膀胱癌进行基因分析。结果 在1例产生G-CSF的膀胱癌中，在该基因的5'上游区域检测到6个体细胞突变。在另1例产生G-CSF的肾盂癌和不产生G-CSF的膀胱癌中未检测到该基因的体细胞突变。产生G-CSF的尿路上皮癌中该基因的拷贝数未增加。结论 该基因5'上游区域的体细胞突变可能导致G-CSF蛋白过度产生。
