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Pharmacogenomic and Pharmacogenetic Characterisation of Sarcomas
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Pharmacogenomic and Pharmacogenetic Characterisation of Sarcomas

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Oncology".

Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 3504

Special Issue Editors

Dr. Massimo Serra

E-Mail Website
Guest Editor
Pharmacogenomics and Pharmacogenetics Research Unit, Bone and Soft Tissue Sarcomas and Innovative Therapies Unit (OSOTT), IRCCS Istituto Ortopedico Rizzoli SC Osteoncology, Via di Barbiano 1/10, 40136 Bologna, Italy
Interests: osteosarcoma; drug resistance; DNA damage repair; targeted drugs; tailored treatment
Dr. Claudia Maria Hattinger

E-Mail Website1 Website2
Guest Editor
IRCCS Rizzoli Orthopaedic Institute, Laboratory of Experimental Oncology, Pharmacogenomics and Pharmacogentics Research Unit (Bologna, Italy)
Interests: bone tumors; tumor genetics; pharmacogenetics; pharmacogenomics; biomarkers validation

Special Issue Information

Dear Colleagues,

We are delighted to announce a call for submissions to a Special Issue of the International Journal of Molecular Sciences on the topic of pharmacogenomics and pharmacogenetics in sarcomas. Although not yet as advanced as for other cancers, pharmacogenetic and pharmacogenomic studies applied to musculoskeletal tumors have been providing new insights into the genetic background of these rare sarcomas and are indicating new candidate biomarkers, which may impact clinical care management. Translation to clinical settings of this body of information is expected to improve both effectiveness and safety of conventional chemotherapy trials, as well as to provide new tailored treatment opportunities to personalize treatments. We encourage submission of both original research articles and reviews on pharmacogenomic and pharmacogenetic studies in tumors. All submitted articles will undergo peer review.

Dr. Massimo Serra
Dr. Claudia Maria Hattinger
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • genetic polymorphisms
  • genetic association studies
  • genome-wide association studies (GWAS)
  • genome epidemiology
  • next generation sequencing
  • web-based genomic data analysis
  • predictive biomarkers
  • prognostic markers
  • anticancer targeted drugs
  • personalized medicine

Published Papers (2 papers)

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Research

16 pages, 1571 KiB  
Article
Impact of ABCG2 and ABCB1 Polymorphisms on Imatinib Plasmatic Exposure: An Original Work and Meta-Analysis
by Chiara Dalle Fratte, Jerry Polesel, Sara Gagno, Bianca Posocco, Elena De Mattia, Rossana Roncato, Marco Orleni, Fabio Puglisi, Michela Guardascione, Angela Buonadonna, Giuseppe Toffoli and Erika Cecchin
Int. J. Mol. Sci. 2023, 24(4), 3303; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms24043303 - 07 Feb 2023
Cited by 5 | Viewed by 1550
Abstract
Adequate imatinib plasma levels are necessary to guarantee an efficacious and safe treatment in gastrointestinal stromal tumor (GIST) and chronic myeloid leukemia (CML) patients. Imatinib is a substrate of the drug transporters ATP-binding cassette subfamily B member 1 (ABCB1) and ATP-binding cassette subfamily [...] Read more.
Adequate imatinib plasma levels are necessary to guarantee an efficacious and safe treatment in gastrointestinal stromal tumor (GIST) and chronic myeloid leukemia (CML) patients. Imatinib is a substrate of the drug transporters ATP-binding cassette subfamily B member 1 (ABCB1) and ATP-binding cassette subfamily G member 2 (ABCG2) that can affect its plasma concentration. In the present study, the association between three genetic polymorphisms in ABCB1 (rs1045642, rs2032582, rs1128503) and one in ABCG2 (rs2231142) and the imatinib plasma trough concentration (Ctrough) was investigated in 33 GIST patients enrolled in a prospective clinical trial. The results of the study were meta-analyzed with those of other seven studies (including a total of 649 patients) selected from the literature through a systematic review process. The ABCG2 c.421C>A genotype demonstrated, in our cohort of patients, a borderline association with imatinib plasma trough levels that became significant in the meta-analysis. Specifically, homozygous carriers of the ABCG2 c.421 A allele showed higher imatinib plasma Ctrough with respect to the CC/CA carriers (Ctrough, 1463.2 ng/mL AA, vs. 1196.6 ng/mL CC + AC, p = 0.04) in 293 patients eligible for the evaluation of this polymorphism in the meta-analysis. The results remained significant under the additive model. No significant association could be described between ABCB1 polymorphisms and imatinib Ctrough, neither in our cohort nor in the meta-analysis. In conclusion, our results and the available literature studies sustain an association between ABCG2 c.421C>A and imatinib plasma Ctrough in GIST and CML patients. Full article
(This article belongs to the Special Issue Pharmacogenomic and Pharmacogenetic Characterisation of Sarcomas)
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19 pages, 4206 KiB  
Article
Pharmacogenomic Profiling of Cisplatin-Resistant and -Sensitive Human Osteosarcoma Cell Lines by Multimodal Targeted Next Generation Sequencing
by Claudia Maria Hattinger, Chiara Casotti, Maria Pia Patrizio, Silvia Luppi, Leonardo Fantoni, Katia Scotlandi, Toni Ibrahim and Massimo Serra
Int. J. Mol. Sci. 2022, 23(19), 11787; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms231911787 - 04 Oct 2022
Cited by 2 | Viewed by 1433
Abstract
Cisplatin (CDDP) is a drug for high-grade osteosarcoma (HGOS) treatment. Several germline pharmacogenetic studies have revealed associations between single nucleotide polymorphisms (SNPs) and CDDP-based therapy response or CDDP-related toxicity in patients with HGOS. Whether these variants could play a biological role in HGOS [...] Read more.
Cisplatin (CDDP) is a drug for high-grade osteosarcoma (HGOS) treatment. Several germline pharmacogenetic studies have revealed associations between single nucleotide polymorphisms (SNPs) and CDDP-based therapy response or CDDP-related toxicity in patients with HGOS. Whether these variants could play a biological role in HGOS cells has not been studied so far. The aim of this study was to explore 28 SNPs of 14 genes in 6 CDDP-resistant and 12 drug-sensitive human HGOS cell lines. An innovative multimodal targeted next generation sequencing (mmNGS) approach with custom primers designed for the most commonly reported SNPs of genes belonging to DNA repair, CDDP transport or detoxification, or associated with CDPP-related toxicity was applied. The mmNGS approach was validated by TaqMan genotyping assays and emerged to be an innovative, reliable tool to detect genetic polymorphisms at both the DNA and RNA level. Allele changes in three SNPs (ERCC2 rs13181 and rs1799793, ERCC1 rs11615) were identified on both DNA and RNA derived libraries in association with CDDP resistance. A change of the GSTP1 rs1695 polymorphism from AA to AG genotype was observed in the RNA of all six CDDP-resistant variants. These SNPs emerged to be causally associated with CDDP resistance in HGOS cells. Full article
(This article belongs to the Special Issue Pharmacogenomic and Pharmacogenetic Characterisation of Sarcomas)
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