Testicular germ cell tumor genomics

被引:18
作者
Woldu, Solomon L. [1 ]
Amatruda, James F. [1 ]
Bagrodia, Aditya [1 ]
机构
[1] Univ Texas Southwestern Med Ctr Dallas, 5323 Harry Hines Blvd, Dallas, TX 75390 USA
关键词
genomics; germ cell tumor; testicular cancer; CARCINOMA-IN-SITU; CISPLATIN RESISTANCE; IMATINIB MESYLATE; SOMATIC MUTATIONS; COMPLETE RESPONSE; DNA METHYLATION; SUPPRESSOR GENE; PHASE-II; C-KIT; CANCER;
D O I
10.1097/MOU.0000000000000347
中图分类号
R5 [内科学]; R69 [泌尿科学(泌尿生殖系疾病)];
学科分类号
1002 ; 100201 ;
摘要
Purpose of reviewTesticular germ cell tumors (TGCTs) are a model for curable cancer because of exquisite chemosensitivity and incorporation of multimodal therapy. Nevertheless, our ability to predict metastases in early-stage disease and responders to chemotherapy in advanced disease is limited. Treatment options for cisplatin-resistant disease are sparse. A further understanding of TGCT biology may allow for more precise patient counseling and identify novel therapies in patients with cisplatin-resistant disease.Recent findingsAdult TGCTs are characterized by frequent chromosomal anomalies and low rates of somatic mutations. Large-scale integrated molecular analysis of early-stage TGCT patients is actively underway. In addition to ubiquitous gain of isochromosome 12p, current molecular studies have confirmed mutations of previously described genes (i.e., KIT and KRAS) and described novel mutations. Analysis of cisplatin-resistant cases has identified high rates of alterations within the TP53-MDM2 axis and a high proportion of patients with potentially actionable targets, including TP53-MDM2, PI3 kinase, and MAPK signaling pathway alterations. The role of epigenetics in TGCT development and prognosis is also being further characterized.SummaryFurther molecular characterization of TGCT may allow for avoidance of unnecessary treatment in patients with early-stage disease and also provide new treatment options in patients with cisplatin-resistant disease.
引用
收藏
页码:41 / 47
页数:7
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