دورية أكاديمية
أعرض في EDS

Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

التفاصيل البيبلوغرافية
العنوان: Somatic mutation detection and KRAS amplification in testicular germ cell tumors.
المؤلفون: Cabral ERM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., Pacanhella MF; Barretos School of Health Sciences Dr. Paulo Prata - FACISB, Barretos, Brazil., Lengert AVH; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., Dos Reis MB; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., Leal LF; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Barretos School of Health Sciences Dr. Paulo Prata - FACISB, Barretos, Brazil., de Lima MA; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., da Silva ALV; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., Pinto IA; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Life and Health Sciences Research Institute (ICVS), Medical School, University of Minho, Braga, Portugal.; 3ICVS/3B's-PT Government Associate Laboratory, Braga, Portugal., Pinto MT; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil., Cárcano FM; Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, Brazil.; Division of Genitourinary Medical Oncology, Oncoclínicas, Belo Horizonte, Brazil.
المصدر: Frontiers in oncology [Front Oncol] 2023 Mar 16; Vol. 13, pp. 1133363. Date of Electronic Publication: 2023 Mar 16 (Print Publication: 2023).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101568867 Publication Model: eCollection Cited Medium: Print ISSN: 2234-943X (Print) Linking ISSN: 2234943X NLM ISO Abbreviation: Front Oncol Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: [Lausanne : Frontiers Research Foundation]
مستخلص: Background: Testicular Germ Cell Tumors (TGCT) are the most common cancer among young adult men. The TGCT histopathology is diverse, and the frequency of genomic alterations, along with their prognostic role, remains largely unexplored. Herein, we evaluate the mutation profile of a 15-driver gene panel and copy number variation of KRAS in a large series of TGCT from a single reference cancer center.
Materials and Methods: A cohort of 97 patients with TGCT, diagnosed at the Barretos Cancer Hospital, was evaluated. Real-time PCR was used to assess copy number variation (CNV) of the KRAS gene in 51 cases, and the mutation analysis was performed using the TruSight Tumor 15 (Illumina) panel (TST15) in 65 patients. Univariate analysis was used to compare sample categories in relation to mutational frequencies. Survival analysis was conducted by the Kaplan-Meier method and log-rank test.
Results: KRAS copy number gain was a very frequent event (80.4%) in TGCT and presented a worse prognosis compared with the group with no KRAS copy gain (10y-OS, 90% vs . 81.5%, p = 0.048). Among the 65 TGCT cases, different variants were identified in 11 of 15 genes of the panel, and the TP53 gene was the most recurrently mutated driver gene (27.7%). Variants were also detected in genes such as KIT , KRAS, PDGFRA , EGFR , BRAF , RET , NRAS , PIK3CA , MET , and ERBB2 , with some of them potentially targetable.
Conclusion: Although larger studies incorporating collaborative networks may shed the light on the molecular landscape of TGCT, our findings unveal the potential of actionable variants in clinical management for applying targeted therapies.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2023 Cabral, Pacanhella, Lengert, Reis, Leal, Lima, Silva, Pinto, Reis, Pinto and Cárcano.)
التعليقات: Comment in: J Urol. 2023 Sep;210(3):567-568. (PMID: 37334530)
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فهرسة مساهمة: Keywords: K-ras Gene; TP53 Gene; mutation; next-generation sequencing; testicular germ cell tumor; testicular neoplasms
تواريخ الأحداث: Date Created: 20230403 Latest Revision: 20230810
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC10060882
DOI: 10.3389/fonc.2023.1133363
PMID: 37007070
قاعدة البيانات: MEDLINE
الوصف
تدمد:2234-943X
DOI:10.3389/fonc.2023.1133363