Personalized medicine: Clinical oncology on molecular view of treatment

Table 1 Various neoplasms and precision medicine findings associated with therapeutic choices: Identifying genes, receptors, and tumor biomarkers or pharmacological targets

Ref.	Neoplasm	Findings through precision medicine	Conclusion
Terry et al[50], 2021	Clear-cell renal cell carcinoma	AXL gene	High levels of AXL in advanced renal tumors indicate a reduced response to anti-PD-1 treatment and rapid progression. Elevated expression of AXL, especially in cases with gene von hippel-lindau inactivation associated with PD-L1, is linked to poorer overall survival. AXL may act as a resistance factor to PD-1 blockade, highlighting the importance of assessing both expressions in the treatment of advanced clear cell renal carcinoma
Hoyer et al[51], 2021	Early stage of pancreatic cancer	SMAD4	The study identified genetic subgroups in patients with advanced pancreatic cancer, revealing different responses to treatment with gemcitabine ± erlotinib. Changes in gene SMAD4 emerged as a potential biomarker to predict the response to erlotinib, with clinical implications. Additional validations are needed, and the study suggests exploring combinations of EGFR inhibitors with immunotherapies in patients with SMAD4 alterations
Megías-Vericat et al[52], 2020	Acute myeloid leukemia	Mutation in the TP53 gene	A promising target in acute myeloid leukemia and myelodysplastic syndrome is the poor-prognosis in gene TP53 mutation (mTP53), currently treated with hypomethylating agents. The anti-cancer agent APR-246 is a novel drug that selectively induces apoptosis in mTP53 cells. Phase 1b/2 trial results suggested that APR-246 combined with azacitidine is well-tolerated and achieved a complete remission rate of 82% in 11 evaluable patients with mTP53 MDS/AML
Soares et al[53], 2021	Prostate cancer	MicroRNA biomarkers	In prostate cancer, there is a dysregulation in the expression of microRNAs, which can modulate the expression of oncogenes and tumor suppressor genes. In a study conducted by Soares et al[53], the potential of microRNAs to improve cancer diagnosis and staging was demonstrated. Based on the information collected from microRNAs, treatments can be categorized according to the radioresistance or radiosensitivity of the cancer, allowing for the determination of the most appropriate therapy. Radical prostatectomy is indicated in cases of radioresistant cancer, while radiotherapy is preferable for radiosensitive tumors
Xin et al[54], 2023	Colorectal cancer	Genetic impact on the incidence of colorectal cancer	In Xin et al[54], the authors conducted a data collection to investigate the influence of genetic architecture on colorectal cancer in different populations. This genetic influence, associated with a positive outcome in colorectal cancer development, is referred to as PRS. Considering that the genetic factor contributes to 7%-16% of the heritability for colorectal cancer development in European and East Asian populations, the crucial importance of collecting information on genetic variants for colorectal cancer screening is emphasized, especially in patients with high PRS. Knowledge of the patient’s PRS makes it feasible to develop personalized prevention strategies
Hill et al[55], 2020	Mantle cell lymphoma	Genes ATM, IGHV, TP53, RB1, CDKN2A, and CCND	Mantle cell lymphoma is a rare and incurable subtype of non-Hodgkin lymphoma. In this meta-analysis, patient data regarding prevalent mutations in MCL provide additional evidence highlighting potential genes for prognosis and precision treatments based on each patient’s unique tumor profile. Potential prognostic targets identified through cytogenetics include the genes ATM, IGHV, TP53, RB1, CDKN2A, and CCND, all found at higher prevalence in the studied patients who already had MCL. Therefore, understanding somatic mutations in MCL can assist in patient stratification based on prognostic risk

AXL: AXL receptor tyrosine kinase; SMAD4: Mothers against decapentaplegic homolog 4; EGFR: Epidermal growth factor receptor; AML: Myeloid leukemia; MDS: Myelodysplastic syndrome; PRS: Polygenic risk scores; MCL: Mantle cell lymphoma; IGHV: Immunoglobulin heavy chain.